Gene: CDKL5
Cytoband position: Xp22.13
OMIM: 300203
RVIS score: -0.67
RVIS percentage: 15.86
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Delayed gross motor development | HP:0002194 | HP:0006905,HP:0007046,HP:0008973 | A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| Generalized myoclonic seizure | HP:0002123 | HP:0006869,HP:0006902,HP:0007075,HP:0007202,HP:0007284,HP:0007294 | A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Bruxism | HP:0003763 | None | Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake. |
| Abnormal nonverbal communicative behavior | HP:0000758 | None | Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. |
| Visual impairment | HP:0000505 | HP:0000516,HP:0000566,HP:0007758,HP:0007860,HP:0007983 | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| Abnormal eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Strabismus | HP:0000486 | HP:0000487 | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| Everted lower lip vermilion | HP:0000232 | HP:0000184,HP:0002264,HP:0002712,HP:0004665,HP:0009086,HP:0009093 | An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. |
| Orofacial cleft | HP:0000202 | None | The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| Abnormal judgment | HP:5200401 | None | Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation. |
| Dyskinesia | HP:0100660 | None | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| Generalized tonic seizure | HP:0010818 | HP:0002184 | A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. |
| Abnormal ureter morphology | HP:0025633 | None | A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. |
| Restricted or repetitive behaviors or interests | HP:0031432 | None | A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. |
| Abnormal eye contact | HP:0034435 | None | Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms. |
| Dystonia | HP:0001332 | HP:0002328 | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| Athetosis | HP:0002305 | HP:0007167,HP:0007316 | A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| Hyperventilation | HP:0002883 | None | Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. |
| Facial hypertrichosis | HP:0002219 | None | Excessive, increased hair growth located in the facial region. |
| Interictal epileptiform activity | HP:0011182 | None | Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. |
| Hypoplasia of penis | HP:0008736 | HP:0008632 | None |
| Prominent forehead | HP:0011220 | HP:0200061 | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| Hand apraxia | HP:0032588 | None | Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. |
| Inability to walk | HP:0002540 | None | Incapability to ambulate. |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Hypsarrhythmia | HP:0002521 | None | Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Abnormality of coordination | HP:0011443 | None | None |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Poor head control | HP:0002421 | None | Difficulty to maintain correct position of the head while standing or sitting. |
| Chorea | HP:0002072 | HP:0002397 | Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. |
| Abnormal hair quantity | HP:0011362 | HP:0002115,HP:0011357 | An abnormal amount of hair. |
| Motor delay | HP:0001270 | HP:0001307,HP:0002130,HP:0006788,HP:0006826,HP:0006909,HP:0006950,HP:0006968,HP:0007219,HP:0007251 | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Intellectual disability, mild | HP:0001256 | HP:0006908,HP:0007119 | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| Diffuse cerebral atrophy | HP:0002506 | HP:0006954 | Diffuse unlocalised atrophy affecting the cerebrum. |
| Gait disturbance | HP:0001288 | HP:0006953 | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| Loss of ambulation | HP:0002505 | HP:0006957 | Inability to walk in a person who previous had the ability to walk. |
| Abnormal proximal phalanx morphology of the hand | HP:0009834 | None | None |
| Limb myoclonus | HP:0045084 | None | None |
| Anonychia | HP:0001798 | HP:0007593,HP:0008384 | Aplasia of the nail. |
| Loss of speech | HP:0002371 | None | None |
| Constipation | HP:0002019 | HP:0002241,HP:0003786 | Infrequent or difficult evacuation of feces. |
| Steroetypic movements of face and head | HP:5200017 | None | Abnormal movements of face and head. |
| Aplasia/Hypoplasia of the nails | HP:0008386 | HP:0008385 | Aplasia or developmental hypoplasia of the nail. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Craniofacial cleft | HP:5201015 | None | Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. |
| Generalized-onset motor seizure | HP:0032677 | None | A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Broad long bones | HP:0005622 | None | Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. |
| Small hand | HP:0200055 | None | Disproportionately small hand. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Sleep-wake cycle disturbance | HP:0006979 | None | Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. |
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Hypertrichosis | HP:0000998 | None | Hypertrichosis is increased hair growth that is abnormal in quantity or location. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Infantile spasms | HP:0012469 | None | Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). |
| Abnormal cortical gyration | HP:0002536 | HP:0006900 | An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. |
| Cerebral atrophy | HP:0002059 | HP:0002422,HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Choreoathetosis | HP:0001266 | HP:0002469,HP:0006811,HP:0007028,HP:0007337 | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Neonatal hypotonia | HP:0001319 | HP:0006830,HP:0008976 | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| Developmental regression | HP:0002376 | HP:0002471,HP:0002489,HP:0006797,HP:0006828,HP:0006854,HP:0007037,HP:0007242,HP:0007247 | Loss of developmental skills, as manifested by loss of developmental milestones. |
| EEG abnormality | HP:0002353 | HP:0001346,HP:0002429,HP:0006841 | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| Cerebellar atrophy | HP:0001272 | HP:0002364,HP:0006839,HP:0007072,HP:0007203 | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| Episodic ataxia | HP:0002131 | HP:0006862,HP:0007152,HP:0007214 | Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Coldness | HP:0033850 | None | Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. |
| Broad proximal phalanges of the hand | HP:0009852 | HP:0006168 | Increased width of the proximal phalanges of the finger. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Aplasia/hypoplasia of the extremities | HP:0009815 | HP:0002969,HP:0006497 | Absence (due to failure to form) or underdevelopment of the extremities. |
| Puberty and gonadal disorders | HP:0008373 | HP:0000827 | None |
| Precocious puberty | HP:0000826 | None | The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Reduced eye contact | HP:0000817 | None | A reduced frequency or duration of eye contact. |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormal muscle tone | HP:0003808 | None | None |
| Broad phalanges of the hand | HP:0009768 | HP:0001246,HP:0006260 | Increased width of the phalanges of the hand. |
| Abnormal exteroceptive sensation | HP:0033747 | None | A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. |
| Broad phalanx | HP:0006009 | HP:0006030,HP:0006249 | Increased side-to-side width of one or more phalanges of the fingers or toes. |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| Reduced social reciprocity | HP:0012760 | HP:0000735 | A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. |
| Abnormal renal morphology | HP:0012210 | HP:0000792,HP:0004726,HP:0004735,HP:0008712 | Any structural anomaly of the kidney. |
| External genital hypoplasia | HP:0003241 | HP:0000788,HP:0003245 | Underdevelopment of part or all of the external reproductive organs. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Hyperactivity | HP:0000752 | HP:0008764 | Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. |
| Inappropriate laughter | HP:0000748 | None | Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying). |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Anxiety | HP:0000739 | None | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| Disinhibition | HP:0000734 | None | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. |
| Motor stereotypy | HP:0000733 | HP:0008758,HP:0008759 | Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. |
| Autistic behavior | HP:0000729 | None | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| Restrictive behavior | HP:0000723 | None | Behavior characterized by an abnormal limitation to a few interests and activities. |
| Atypical behavior | HP:0000708 | HP:0000715,HP:0002368,HP:0002456 | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| Agitation | HP:0000713 | None | A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension. |
| Restlessness | HP:0000711 | None | A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Abnormal ocular adnexa morphology | HP:0030669 | None | A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Synophrys | HP:0000664 | HP:0002210 | Meeting of the medial eyebrows in the midline. |
| Deeply set eye | HP:0000490 | HP:0000663 | An eye that is more deeply recessed into the plane of the face than is typical. |
| Ophthalmoplegia | HP:0000602 | None | Paralysis of one or more extraocular muscles that are responsible for eye movements. |
| Ophthalmoparesis | HP:0000597 | HP:0007701,HP:0008044 | Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. |
| Cerebral visual impairment | HP:0100704 | HP:0000595 | A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. |
| Absent thumbnail | HP:0012554 | None | Absence of thumb nail. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| Abnormal conjugate eye movement | HP:0000549 | None | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Abnormal eyebrow morphology | HP:0000534 | None | An abnormality of the eyebrow. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Aplasia/hypoplasia involving bones of the upper limbs | HP:0006496 | None | Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. |
| Aplasia/Hypoplasia involving bones of the feet | HP:0006494 | None | None |
| Aplasia/hypoplasia involving bones of the lower limbs | HP:0006493 | None | Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. |
| Eclabion | HP:0012472 | None | A turning outward of the lip or lips, that is, eversion of the lips. |
| Thick vermilion border | HP:0012471 | None | Increased width of the skin of vermilion border region of upper lip. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal myelination | HP:0012447 | None | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| Delayed myelination | HP:0012448 | None | Delayed myelination. |
| Somatic sensory dysfunction | HP:0003474 | HP:0100964 | An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormal social behavior | HP:0012433 | None | An abnormality of actions or reactions of a person taking place during interactions with others. |
| Anteverted nares | HP:0000463 | HP:0000427,HP:0000435,HP:0000441,HP:0004495 | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| Depressed nasal bridge | HP:0005280 | HP:0000425,HP:0000428,HP:0000439,HP:0000459,HP:0004413,HP:0004505,HP:0004506,HP:0004666,HP:0005119,HP:0005284 | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| Abnormal morphology of the nasal alae | HP:0000429 | None | An abnormality of the Ala of nose. |
| Abnormal nasal bridge morphology | HP:0000422 | HP:0000423 | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Scoliosis | HP:0002650 | HP:0002770,HP:0003303,HP:0003317,HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| High forehead | HP:0000348 | HP:0000342 | An abnormally increased height of the forehead. |
| Broad forehead | HP:0000337 | HP:0000352,HP:0000354 | Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. |
| Sloping forehead | HP:0000340 | HP:0000351,HP:0004480,HP:0008493,HP:0008500 | Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. |
| Abnormal autonomic nervous system physiology | HP:0012332 | HP:0002271,HP:0002387,HP:0002459,HP:0007310 | A functional abnormality of the autonomic nervous system. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Short finger | HP:0009381 | HP:0004098,HP:0006015 | Abnormally short finger associated with developmental hypoplasia. |
| Narrow forehead | HP:0000341 | HP:0000314,HP:0004674,HP:0004677 | Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). |
| Kyphosis | HP:0002808 | HP:0002769,HP:0003314 | Exaggerated anterior convexity of the thoracic vertebral column. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Deep philtrum | HP:0002002 | HP:0000305,HP:0004654 | Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. |
| Inappropriate crying | HP:0030215 | None | Uncontrolled episodes of crying occur without any apparent motivating stimuli. |
| Non-motor seizure | HP:0033259 | None | A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. |
| Absent fingernail | HP:0001817 | None | Absence of a fingernail. |
| Tapered finger | HP:0001182 | HP:0005795,HP:0005800,HP:0006032,HP:0006080,HP:0006098,HP:0006111,HP:0006125,HP:0006244,HP:0007532 | The gradual reduction in girth of the finger from proximal to distal. |
| Abnormal finger phalanx morphology | HP:0005918 | HP:0005786,HP:0006259 | Abnormalities affecting the phalanx of finger. |
| Aplasia/Hypoplasia of fingers | HP:0006265 | None | Small/hypoplastic or absent/aplastic fingers. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Microcephaly | HP:0000252 | HP:0001366,HP:0005485,HP:0005489,HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Progressive microcephaly | HP:0000253 | None | Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. |
| Secondary microcephaly | HP:0005484 | HP:0000241,HP:0000259,HP:0005499 | Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Abnormal experience of reality | HP:5200423 | None | Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of central nervous system electrophysiology | HP:0030178 | None | None |
| Abnormal nervous system electrophysiology | HP:0001311 | HP:0002531,HP:0003129 | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Stereotypical hand wringing | HP:0012171 | None | Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement. |
| Thick lower lip vermilion | HP:0000179 | HP:0000170 | Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). |
| Abnormal lower lip morphology | HP:0000178 | None | An abnormality of the lower lip. |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| Cleft palate | HP:0000175 | HP:0410004 | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Aplasia/hypoplasia involving the skeleton | HP:0009115 | None | Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008658,HP:0008688,HP:0008704,HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Renal dysplasia | HP:0000110 | HP:0000116,HP:0004721 | The presence of developmental dysplasia of the kidney. |
| Abnormal heart morphology | HP:0001627 | HP:3000001 | Any structural anomaly of the heart. |
| Abnormal hand morphology | HP:0005922 | HP:0003098 | Any structural anomaly of the hand. |
| Abnormal finger morphology | HP:0001167 | HP:0003035 | An anomaly of a finger. |
| Aplasia/hypoplasia involving bones of the extremities | HP:0045060 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Ureterocele | HP:0000070 | None | A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. |
| Muscle weakness | HP:0001324 | HP:0002309,HP:0008979,HP:0009012,HP:0009061 | Reduced strength of muscles. |
| Abnormal response to social norms | HP:5200123 | None | None |
| Abnormality of the ureter | HP:0000069 | HP:0006001 | An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. |
| Micropenis | HP:0000054 | HP:0000038 | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| Hypoplastic male external genitalia | HP:0000050 | HP:0008710,HP:0008721 | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| Difficulty walking | HP:0002355 | HP:0007101,HP:0009030 | Reduced ability to walk (ambulate). |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Abnormal male external genitalia morphology | HP:0000032 | None | Any structural abnormality of male external genitalia. |
| Long fingers | HP:0100807 | HP:0006010 | The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| All | HP:0000001 | None | None |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Hernia | HP:0100790 | None | None |
| Self-injurious behavior | HP:0100716 | None | Self-aggression. |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Tongue thrusting | HP:0100703 | None | Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns |
| Abnormal cerebral subcortex morphology | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormal external nose morphology | HP:0010938 | None | An abnormality of the external nose. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormal affect | HP:5200261 | None | Abnormalities in the intensity, frequency, or duration of observable and expressed emotions. |
| Recurrent maladaptive behavior | HP:5200241 | None | A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. |
| Maladaptive fear-related cognitions | HP:5200230 | None | Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Atonic seizure | HP:0010819 | HP:0002124 | Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. |
| Abnormality of pain sensation | HP:0010832 | None | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| EEG with generalized epileptiform discharges | HP:0011198 | HP:0010842 | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| EEG with generalized slow activity | HP:0010845 | None | Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| EEG with focal epileptiform discharges | HP:0011185 | HP:0010840 | EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Multifocal epileptiform discharges | HP:0010841 | None | An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). |
| EEG with spike-wave complexes | HP:0010850 | None | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| EEG with burst suppression | HP:0010851 | None | The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. |
| Abdominal wall defect | HP:0010866 | None | An incomplete closure of the abdominal wall. |
| Abnormal hallux morphology | HP:0001844 | None | This term applies for all abnormalities of the big toe, also called hallux. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Total ophthalmoplegia | HP:0007824 | None | Paralysis of both the extrinsic and intrinsic ocular muscles. |
| Hallux valgus | HP:0001822 | HP:0004682 | Lateral deviation of the great toe (i.e., in the direction of the little toe). |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Gastroesophageal reflux | HP:0002020 | HP:0004793 | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| Deviation of toes | HP:0100498 | None | None |
| Abnormal toe morphology | HP:0001780 | None | An anomaly of a toe. |
| Short foot | HP:0001773 | HP:0001764,HP:0001766,HP:0001778,HP:0008135 | A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Abnormal cardiac septum morphology | HP:0001671 | HP:0001690,HP:0004760 | An anomaly of the intra-atrial or intraventricular septum. |
| Abnormal cardiac ventricle morphology | HP:0001713 | None | An abnormality of a cardiac ventricle. |
| Deviation of the hallux | HP:0010051 | HP:0004700 | Displacement of the big toe from its normal position. |
| Midline hand movements | HP:5200009 | None | Hand stereotypies within the medial plane of the body. |
| Social disinhibition | HP:5200029 | None | A tendency to violate social norms because of a failure to resist temptations or urges in social settings. |
| Steroetypic upper-extremity movements | HP:5200018 | None | Abnormal movements of the upper extremities. |
| Ventricular septal defect | HP:0001629 | HP:0001652 | A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. |
| Abnormal ventricular septum morphology | HP:0010438 | HP:0001628 | A structural abnormality of the interventricular septum. |
| Infantile muscular hypotonia | HP:0008947 | HP:0002449,HP:0002523,HP:0010572 | Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. |
| Abnormality of the nail | HP:0001597 | None | Abnormality of the nail. |
| Abnormal hair morphology | HP:0001595 | None | An abnormality of the hair. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Abnormal umbilicus morphology | HP:0001551 | None | An abnormality of the structure or appearance of the umbilicus. |
| Umbilical hernia | HP:0001537 | None | Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. |
| Failure to thrive | HP:0001508 | HP:0001535,HP:0008853,HP:0008878,HP:0008916 | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Growth delay | HP:0001510 | HP:0001434,HP:0001512,HP:0001514,HP:0001517,HP:0001532,HP:0008847,HP:0008870,HP:0008886,HP:0008893,HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Broad finger | HP:0001500 | HP:0001497 | Increased width of a non-thumb digit of the hand. |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Abnormal communication | HP:0034434 | None | Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level. |
| Abnormality of the abdominal wall | HP:0004298 | HP:0001462 | The presence of any abnormality affecting the abdominal wall. |
| X-linked dominant inheritance | HP:0001423 | None | A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. |
| X-linked inheritance | HP:0001417 | HP:0001418 | A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Tachypnea | HP:0002789 | HP:0002874,HP:0004346 | Very rapid breathing. |
| Atrophy/Degeneration affecting the cerebrum | HP:0007369 | None | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Pill-rolling tremor | HP:0025387 | None | A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. |
| Diffuse white matter abnormalities | HP:0007204 | None | None |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Interictal EEG abnormality | HP:0025373 | None | Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007003,HP:0007060,HP:0007061,HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| Focal-onset seizure | HP:0007359 | HP:0002358,HP:0040168 | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| Generalized-onset seizure | HP:0002197 | HP:0002409,HP:0007114,HP:0007339 | A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. |
| Lissencephaly | HP:0001339 | HP:0002537 | A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. |
| Tremor | HP:0001337 | HP:0001295,HP:0001309 | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| Myoclonus | HP:0001336 | HP:0002535,HP:0007087 | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Abnormal upper limb bone morphology | HP:0040070 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Impaired pain sensation | HP:0007328 | HP:0002713 | Reduced ability to perceive painful stimuli. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormality of neuronal migration | HP:0002269 | HP:0007317 | An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Functional motor deficit | HP:0004302 | None | None |
| Bilateral tonic-clonic seizure | HP:0002069 | HP:0001306,HP:0002407,HP:0007252 | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| Pachygyria | HP:0001302 | HP:0007227 | Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. |
| Early onset of sexual maturation | HP:0100000 | None | An early onset of puberty, in this case early does not refer to precocious. |
| Hernia of the abdominal wall | HP:0004299 | None | The presence of a hernia in the abdominal wall. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| Developmental stagnation | HP:0007281 | HP:0007130,HP:0007198 | A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. |
| Panic attack | HP:0025269 | None | A sudden episode of intense fear in a situation where there is no danger or apparent cause. |
| Encephalopathy | HP:0001298 | None | Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. |
| Generalized hypotonia | HP:0001290 | None | Generalized muscular hypotonia (abnormally low muscle tone). |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Ataxia | HP:0001251 | HP:0001253,HP:0002513,HP:0007050,HP:0007157 | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Multifocal seizures | HP:0031165 | None | Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). |
| Broad phalanx of the toes | HP:0010174 | None | Increased width of phalanx of one or more toes. |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Abnormal toe phalanx morphology | HP:0010161 | None | None |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Generalized non-motor (absence) seizure | HP:0002121 | HP:0007143,HP:0011148 | A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. |
| Febrile seizure (within the age range of 3 months to 6 years) | HP:0002373 | HP:0002175,HP:0007102 | A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Hypoplasia of the corpus callosum | HP:0002079 | HP:0002319,HP:0007026 | Underdevelopment of the corpus callosum. |
| Abnormality of the peripheral nervous system | HP:0410008 | None | Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Short digit | HP:0011927 | None | One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. |
| Apnea | HP:0002104 | HP:0005936,HP:0005958 | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Aplasia/hypoplasia involving bones of the hand | HP:0005927 | None | Absence (due to failure to form) or underdevelopment of the bones of the hand. |
| Seizure precipitated by febrile infection | HP:0032894 | None | Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. |
| Infection-related seizure | HP:0032892 | None | Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. |
| Neonatal seizure | HP:0032807 | None | A seizure occurring within the neonatal period (28 days beyond the full term date). |
| Sudden episodic apnea | HP:0002882 | None | Recurrent bouts of sudden, severe apnea that may be life-threatening. |
| Episodic tachypnea | HP:0002876 | HP:0002881 | Episodes of very rapid breathing. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormal limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Myoclonic seizure | HP:0032794 | None | A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Tonic seizure | HP:0032792 | None | A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. |
| Epileptic encephalopathy | HP:0200134 | None | A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. |
| Abnormal pattern of respiration | HP:0002793 | None | An anomaly of the rhythm or depth of breathing. |
| Moderate global developmental delay | HP:0011343 | None | A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Severe global developmental delay | HP:0011344 | None | A severe delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Gait ataxia | HP:0002066 | HP:0002379 | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Sleep abnormality | HP:0002360 | None | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| Resting tremor | HP:0002322 | None | A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. |
| Mutism | HP:0002300 | None | Inability to speak or communicate verbally past the age of typical language development. |
| Abnormal nostril morphology | HP:0005288 | None | Abnormality of the nostril. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Abnormal metencephalon morphology | HP:0011283 | None | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| Abnormal hindbrain morphology | HP:0011282 | None | An abnormality of the hindbrain, also known as the rhombencephalon. |
| Clonic seizure | HP:0020221 | None | A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| Motor seizure | HP:0020219 | None | A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Abnormality of the autonomic nervous system | HP:0002270 | None | An abnormality of the autonomic nervous system. |
| EEG with abnormally slow frequencies | HP:0011203 | None | EEG with abnormally slow frequencies. |
| Uni- and bilateral multifocal epileptiform discharges | HP:0011190 | None | Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. |
| Generalized clonic seizure | HP:0011169 | None | Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. |
| Intellectual disability, profound | HP:0002187 | None | Profound mental retardation is defined as an intelligence quotient (IQ) below 20. |
| Apraxia | HP:0002186 | None | A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. |
| Dialeptic seizure | HP:0011146 | None | A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. |
| Abnormal skin adnexa morphology | HP:0011138 | None | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Abnormality of speech or vocalization | HP:0002167 | None | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormality of the ocular adnexa | HP:0032039 | None | An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. |
| Epileptic spasm | HP:0011097 | None | A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |