Human Phenotype Ontology

The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

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.