Gene: KIF1A
Cytoband position: 2q37.3
OMIM: 601255
RVIS score: -3.67
RVIS percentage: 0.27
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Impaired distal vibration sensation | HP:0006886 | None | A decrease in the ability to perceive vibration in the distal portions of the limbs. |
| 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. |
| Optic atrophy | HP:0000648 | HP:0007751,HP:0007855 | Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. |
| 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. |
| Peripheral edema | HP:0012398 | None | An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. |
| Abnormal pinna morphology | HP:0000377 | HP:0000390,HP:0000398,HP:0004465,HP:0008562,HP:0008566,HP:0008567,HP:0008572,HP:0008580,HP:0008582,HP:0008594,HP:0008602,HP:0040111 | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| 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. |
| 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. |
| Spastic paraparetic gait | HP:0031958 | None | A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. |
| EEG with generalized epileptiform discharges | HP:0011198 | HP:0010842 | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| Paronychia | HP:0001818 | None | The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). |
| Weakness due to upper motor neuron dysfunction | HP:0010549 | None | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| Abnormality of bone mineral density | HP:0004348 | None | This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. |
| Reduced consciousness | HP:0004372 | None | Abnormally diminished level of attention, responsiveness, or wakefulness. |
| Joint contracture | HP:0034392 | None | A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. |
| 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. |
| 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. |
| Wormian bones | HP:0002645 | None | The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. |
| 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). |
| Unusual infection | HP:0032101 | None | A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. |
| Porencephalic cyst | HP:0002132 | None | A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. |
| 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 |
| Progressive spastic paraplegia | HP:0007020 | HP:0006875,HP:0007255 | None |
| Peripheral neuropathy | HP:0009830 | HP:0003157,HP:0003407,HP:0007088,HP:0007235,HP:0007355 | Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. |
| 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. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Absent speech | HP:0001344 | HP:0001617,HP:0006798 | Complete lack of development of speech and language abilities. |
| Osteolytic defects of the phalanges of the hand | HP:0009771 | HP:0001179 | Dissolution or degeneration of bone tissue of the phalanges of the hand. |
| Hypoesthesia | HP:0033748 | None | Decreased ability to perceive touch. |
| 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. |
| Abnormal optic disc morphology | HP:0012795 | None | A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. |
| Abnormal eyelid morphology | HP:0000492 | HP:0000285 | An abnormality of the eyelids. |
| Facial edema | HP:0000282 | None | None |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Decreased sensory nerve conduction velocity | HP:0003448 | HP:0006914 | Reduced speed of conduction of the action potential along a sensory nerve. |
| Diffuse cerebellar atrophy | HP:0100275 | HP:0006928 | Diffuse unlocalised atrophy affecting the cerebellum. |
| Distal muscle weakness | HP:0002460 | HP:0002598,HP:0002935,HP:0003497,HP:0006940,HP:0009008 | Reduced strength of the musculature of the distal extremities. |
| Delayed speech and language development | HP:0000750 | HP:0002116,HP:0002117,HP:0002336,HP:0002399,HP:0002498,HP:0006936,HP:0007004,HP:0007127,HP:0007170,HP:0007172 | A degree of language development that is significantly below the norm for a child of a specified age. |
| Impaired distal proprioception | HP:0006858 | HP:0007056,HP:0007148 | A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. |
| Peripheral axonal degeneration | HP:0000764 | HP:0006787,HP:0006876,HP:0007304 | Progressive deterioration of peripheral axons. |
| Anhidrosis | HP:0000970 | None | Inability to sweat. |
| Pace of progression | HP:0003679 | None | None |
| All | HP:0000001 | None | None |
| Abnormality of the nail | HP:0001597 | None | Abnormality of the nail. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Abnormality of the musculature of the limbs | HP:0009127 | None | None |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| 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. |
| 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. |
| Distal sensory impairment | HP:0002936 | HP:0003476,HP:0006843,HP:0006845,HP:0006922,HP:0006971,HP:0006993,HP:0007138,HP:0007292,HP:0007296 | An abnormal reduction in sensation in the distal portions of the extremities. |
| Hand muscle atrophy | HP:0009130 | HP:0006967,HP:0008934,HP:0008951,HP:0009038 | Muscular atrophy involving the muscles of the hand. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| 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. |
| Skeletal muscle atrophy | HP:0003202 | HP:0001299,HP:0003545,HP:0003671,HP:0003702,HP:0003746,HP:0006995,HP:0007171,HP:0007356,HP:0009010,HP:0009048,HP:0100868 | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Hyperhidrosis | HP:0000975 | HP:0001011,HP:0001064,HP:0007424 | Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal epiphysis morphology | HP:0005930 | HP:0000936 | An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. |
| 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. |
| Abnormal tongue physiology | HP:0030810 | None | Any functional anomaly of the tongue. |
| Cerebral atrophy | HP:0002059 | HP:0002422,HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Hyperreflexia | HP:0001347 | HP:0001282,HP:0006820,HP:0007184,HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Peripheral axonal neuropathy | HP:0003477 | HP:0006814,HP:0006842,HP:0007169,HP:0008304 | An abnormality characterized by disruption of the normal functioning of peripheral axons. |
| Abnormality of peripheral nerve conduction | HP:0003134 | HP:0006832,HP:0007186 | An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). |
| Severe muscular hypotonia | HP:0006829 | HP:0002347 | A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. |
| 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. |
| Impaired vibratory sensation | HP:0002495 | HP:0006836,HP:0007116 | A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. |
| Cerebral cortical atrophy | HP:0002120 | HP:0006823,HP:0006835 | Atrophy of the cortex of the cerebrum. |
| Cerebellar vermis atrophy | HP:0006855 | HP:0007121,HP:0007312 | Wasting (atrophy) of the vermis of cerebellum. |
| Distal amyotrophy | HP:0003693 | HP:0002484,HP:0002934,HP:0003486,HP:0003699,HP:0006786,HP:0006864,HP:0008937,HP:0008958,HP:0009015,HP:0009040,HP:0009065 | Muscular atrophy affecting muscles in the distal portions of the extremities. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| 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. |
| Decreased nerve conduction velocity | HP:0000762 | HP:0000761,HP:0007118,HP:0007218,HP:0007231 | A reduction in the speed at which electrical signals propagate along the axon of a neuron. |
| Abnormal peripheral nervous system morphology | HP:0000759 | HP:0003483 | A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| 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 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. |
| Osteolytic defects of the hand bones | HP:0009699 | HP:0004282,HP:0006082 | None |
| Limb muscle weakness | HP:0003690 | HP:0002534 | Reduced strength and weakness of the muscles of the arms and legs. |
| Slowly progressive | HP:0003677 | HP:0003675,HP:0003681 | Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. |
| Progressive | HP:0003676 | None | Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. |
| 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. |
| Juvenile onset | HP:0003621 | HP:0003578,HP:0003580,HP:0003582,HP:0003583,HP:0003589,HP:0003592,HP:0003604,HP:0003619,HP:0003620,HP:0003625,HP:0003659,HP:0003661,HP:0003670 | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| 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. |
| Congenital onset | HP:0003577 | HP:0003595,HP:0003601,HP:0003624,HP:0003660,HP:0003666 | A phenotypic abnormality that is present at birth. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Palpebral edema | HP:0100540 | HP:0000626 | Edema in the region of the eyelids. |
| Epicanthus | HP:0000286 | HP:0000624,HP:0007930 | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| Abnormality of the periorbital region | HP:0000606 | None | An abnormality of the region situated around the orbit of the eye. |
| Abnormal saccadic eye movements | HP:0000570 | HP:0000604 | An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| 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. |
| Abnormal optic nerve morphology | HP:0000587 | None | Abnormality of the optic nerve. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Visual loss | HP:0000572 | None | Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). |
| Muscle stiffness | HP:0003552 | HP:0009014 | A condition in which muscles cannot be moved quickly without accompanying pain or spasm. |
| Abnormality of connective tissue | HP:0003549 | None | Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). |
| Short stature | HP:0004322 | HP:0001509,HP:0003501,HP:0003507,HP:0003512,HP:0003518,HP:0003519,HP:0008871,HP:0008882,HP:0008888,HP:0008913 | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| 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 eye morphology | HP:0012372 | HP:0000489,HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal pyramidal sign | HP:0007256 | HP:0003488,HP:0007161,HP:0007225,HP:0007275,HP:0007324,HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Babinski sign | HP:0003487 | HP:0001352 | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| Distal lower limb muscle weakness | HP:0009053 | HP:0003485,HP:0009035 | Reduced strength of the distal musculature of the legs. |
| 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. |
| 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. |
| Upper limb amyotrophy | HP:0009129 | HP:0003471 | Muscular atrophy involving the muscles of the upper limbs. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| 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). |
| Short nose | HP:0003196 | HP:0000440,HP:0000449,HP:0000450,HP:0003192,HP:0003195,HP:0005270,HP:0200092 | Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. |
| Scissor gait | HP:0012407 | None | A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. |
| Abnormal morphology of the nasal alae | HP:0000429 | None | An abnormality of the Ala of nose. |
| Abnormal peripheral myelination | HP:0003130 | HP:0003408 | An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. |
| Macrotia | HP:0000400 | HP:0000382,HP:0000386,HP:0000401,HP:0001755 | Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). |
| Malar flattening | HP:0000272 | HP:0000312,HP:0000332,HP:0004642,HP:0004658,HP:0004671,HP:0005319,HP:0005443,HP:0005455,HP:0100846 | Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal zygomatic bone morphology | HP:0010668 | HP:0012369 | An abnormality of the zygomatic bone. |
| Decreased number of peripheral myelinated nerve fibers | HP:0003380 | HP:0003385,HP:0003386,HP:0007093,HP:0007135,HP:0007177,HP:0007320,HP:0007322 | A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). |
| Foot dorsiflexor weakness | HP:0009027 | HP:0003377 | Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Abnormality of the immune system | HP:0002715 | HP:0003257,HP:0003346,HP:0010986 | An abnormality of the immune system. |
| Abnormal bone structure | HP:0003330 | None | Any anomaly in the composite material or the layered arrangement of the bony skeleton. |
| Abnormality of the orbital region | HP:0000315 | HP:0000284 | None |
| Abnormal midface morphology | HP:0000309 | HP:0430026 | An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. |
| Hyperlordosis | HP:0003307 | HP:0002939 | Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Abnormal hip bone morphology | HP:0003272 | None | An abnormality of the hip bone. |
| 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. |
| Full cheeks | HP:0000293 | HP:0002262,HP:0004427 | Increased prominence or roundness of soft tissues between zygomata and mandible. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Microcephaly | HP:0000252 | HP:0001366,HP:0005485,HP:0005489,HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Hydrocephalus | HP:0000238 | HP:0007189,HP:0008503 | Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the fontanelles or cranial sutures | HP:0000235 | None | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). |
| Abnormality of taste sensation | HP:0000223 | None | None |
| Hypogeusia | HP:0000224 | None | A decreased ability to perceive flavor. |
| Gingival overgrowth | HP:0000212 | HP:0000195 | Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. |
| Abnormality of peripheral nervous system electrophysiology | HP:0030177 | None | An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. |
| 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 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. |
| Open mouth | HP:0000194 | None | A facial appearance characterized by a permanently or nearly permanently opened mouth. |
| Abnormal upper lip morphology | HP:0000177 | None | An abnormality of the upper lip. |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Abnormality of the gingiva | HP:0000168 | None | Any abnormality of the gingiva (also known as gums). |
| 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 tongue | HP:0000157 | None | Any abnormality of the tongue. |
| 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. |
| Osteolysis involving bones of the lower limbs | HP:0009139 | None | None |
| Osteolysis involving bones of the feet | HP:0009134 | None | None |
| Acral ulceration | HP:0006121 | HP:0001226,HP:0001862,HP:0005040 | A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. |
| 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. |
| Abnormal cortical bone morphology | HP:0003103 | None | An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| 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. |
| Osteolysis involving bones of the upper limbs | HP:0045039 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Muscle weakness | HP:0001324 | HP:0002309,HP:0008979,HP:0009012,HP:0009061 | Reduced strength of muscles. |
| Lower limb muscle weakness | HP:0007340 | HP:0002065,HP:0002477,HP:0009047 | Weakness of the muscles of the legs. |
| Abnormality of the ankle | HP:0003028 | None | An anomaly of the joint that connects the foot with the leg. |
| Urinary bladder sphincter dysfunction | HP:0002839 | HP:0000018 | Abnormal function of a sphincter of the urinary bladder. |
| Abnormality of the bladder | HP:0000014 | None | An abnormality of the urinary bladder. |
| Functional abnormality of the bladder | HP:0000009 | HP:0004424,HP:0008731 | Dysfunction of the urinary bladder. |
| Autosomal recessive inheritance | HP:0000007 | HP:0001416,HP:0001526,HP:0031362 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Abnormal tendon morphology | HP:0100261 | None | An abnormality of the structure or form of the tendons, also often called sinews. |
| Paraplegia | HP:0010550 | None | Severe or complete weakness of both lower extremities with sparing of the upper extremities. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| 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. |
| Abnormality of body height | HP:0000002 | None | Deviation from the norm of height with respect to that which is expected according to age and gender norms. |
| Abnormality of the periungual region | HP:0100803 | None | An abnormality of the region around the nails of the fingers or toes. |
| Abnormal long bone morphology | HP:0011314 | HP:0100713,HP:0100714,HP:0100715 | An abnormality of size or shape of the long bones. |
| Digital ulcer | HP:0031917 | None | An open sore on the surface of the skin of a finger or toe. |
| Abnormality of immune system physiology | HP:0010978 | None | A functional abnormality of the immune system. |
| Abnormal external nose morphology | HP:0010938 | None | An abnormality of the external nose. |
| Abnormality of the lower urinary tract | HP:0010936 | None | An abnormality of the lower urinary tract. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal oral physiology | HP:0031815 | None | A functional anomaly of the mouth (which is also known as the oral cavity). |
| Abnormal superficial reflex | HP:0031828 | None | An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Impaired proprioception | HP:0010831 | HP:0010870 | A loss or impairment of the sensation of the relative position of parts of the body and joint position. |
| 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. |
| Intellectual disability, severe | HP:0010864 | HP:0007196 | Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. |
| Talipes | HP:0001883 | None | A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. |
| Foot acroosteolysis | HP:0001842 | None | None |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Periorbital edema | HP:0100539 | None | Edema affecting the region situated around the orbit of the eye. |
| Dystrophic toenail | HP:0001810 | HP:0007558 | Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| 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. |
| Osteolysis | HP:0002797 | HP:0010737 | Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. |
| Pedal edema | HP:0010741 | None | An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. |
| 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. |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Abnormal toe morphology | HP:0001780 | None | An anomaly of a toe. |
| Talipes equinovarus | HP:0001762 | None | Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. |
| Abnormal foot morphology | HP:0001760 | HP:0010216,HP:0010611 | An abnormality of the skeleton of foot. |
| Abnormal ankle physiology | HP:0034674 | None | A functional anomaly of the ankle. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Paraplegia/paraparesis | HP:0010551 | None | Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Hypohidrosis or hyperhidrosis | HP:0007550 | None | None |
| 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 |
| Abnormal cheek morphology | HP:0004426 | None | An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface |
| Biparietal narrowing | HP:0004422 | None | A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). |
| 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. |
| Abnormal joint physiology | HP:0034430 | None | None |
| Autoamputation of digits | HP:0007460 | None | The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. |
| Abnormality of the musculature of the upper limbs | HP:0001446 | None | None |
| Abnormality of the musculature of the lower limbs | HP:0001437 | None | None |
| Abnormality of the musculature of the hand | HP:0001421 | None | None |
| 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. |
| Reduced bone mineral density | HP:0004349 | None | A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. |
| Abnormal posterior eye segment morphology | HP:0004329 | None | None |
| 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 |
| Atrophy/Degeneration affecting the brainstem | HP:0007366 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Appendicular spasticity | HP:0034353 | None | A type of spasticity that affects one or more limbs (arms or legs). |
| 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. |
| Arthrogryposis multiplex congenita | HP:0002804 | HP:0001389,HP:0001390,HP:0002759,HP:0005188,HP:0005663,HP:0005809,HP:0005859 | Multiple congenital contractures in different body areas. |
| Flexion contracture | HP:0001371 | HP:0001372,HP:0001381,HP:0005053,HP:0005189,HP:0005660 | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| 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. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Reduced tendon reflexes | HP:0001315 | HP:0001316 | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Areflexia | HP:0001284 | HP:0001314 | Absence of neurologic reflexes such as the knee-jerk reaction. |
| Dysmetria | HP:0001310 | None | A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Abnormal corneal reflex | HP:0034251 | None | An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. |
| Lower limb hyperreflexia | HP:0002395 | HP:0007245,HP:0007288 | None |
| Abnormality of skin adnexa physiology | HP:0025276 | None | Any functional anomaly 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. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| 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. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Spastic paraplegia | HP:0001258 | HP:0007062,HP:0007124,HP:0007216 | Spasticity and weakness of the leg and hip muscles. |
| 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. |
| Sensorimotor neuropathy | HP:0007141 | HP:0007055,HP:0007237 | None |
| Abnormal fingernail morphology | HP:0001231 | None | An abnormality of the fingernails. |
| Lower limb amyotrophy | HP:0007210 | None | Muscular atrophy affecting the lower limb. |
| Autoamputation | HP:0001218 | None | Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. |
| Midface retrusion | HP:0011800 | HP:0040199 | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| Abnormal sensory nerve conduction velocity | HP:0040132 | None | None |
| Abnormal nerve conduction velocity | HP:0040129 | None | None |
| Osteolytic defects of the phalanges of the toes | HP:0010177 | None | None |
| Abnormal toe phalanx morphology | HP:0010161 | None | None |
| Abnormality of the hand | HP:0001155 | HP:0005858 | An abnormality affecting one or both hands. |
| Distal upper limb amyotrophy | HP:0007149 | None | Muscular atrophy of distal arm muscles. |
| Abnormality of limb bone | HP:0040068 | None | None |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormal upper limb bone morphology | HP:0040070 | None | None |
| Abnormality of limbs | HP:0040064 | None | None |
| Ventriculomegaly | HP:0002119 | HP:0002447,HP:0005691,HP:0007071 | An increase in size of the ventricular system of the brain. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormal fundus morphology | HP:0001098 | None | Any structural abnormality of the fundus of the eye. |
| Episodic hyperhidrosis | HP:0001069 | None | Intermittent episodes of abnormally increased perspiration. |
| 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. |
| 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. |
| Respiratory tract infection | HP:0011947 | None | An infection of the upper or lower respiratory tract. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Leg muscle stiffness | HP:0008969 | None | None |
| Recurrent infections | HP:0002719 | HP:0002957,HP:0002964,HP:0005405 | Increased susceptibility to infections. |
| Intrinsic hand muscle atrophy | HP:0008954 | None | Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. |
| Axial hypotonia | HP:0008936 | HP:0002320 | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. |
| Increased susceptibility to fractures | HP:0002659 | HP:0002662,HP:0002798,HP:0005710,HP:0005783,HP:0005931 | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| Abnormal cerebrospinal fluid morphology | HP:0002921 | None | An abnormality of the cerebrospinal fluid (CSF). |
| Feeding difficulties in infancy | HP:0008872 | HP:0002016,HP:0002022,HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| 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 musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal bone ossification | HP:0011849 | None | Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| Recurrent respiratory infections | HP:0002205 | HP:0002782,HP:0002873 | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal oral mucosa morphology | HP:0011830 | None | Abnormality of the oral mucosa. |
| Abnormal facial skeleton morphology | HP:0011821 | None | An abnormality of one or more of the set of bones that make up the facial skeleton. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormality of the knee | HP:0002815 | None | An abnormality of the knee joint or surrounding structures. |
| 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. |
| Congenital contracture | HP:0002803 | None | One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Positional foot deformity | HP:0005656 | None | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| Skin ulcer | HP:0200042 | None | A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. |
| Abnormal calvaria morphology | HP:0002683 | HP:0002648 | Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. |
| Painless fractures due to injury | HP:0002661 | None | An increased tendency to fractures following trauma, with fractures occurring without pain. |
| Abnormal pelvic girdle bone morphology | HP:0002644 | None | An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. |
| Ankle clonus | HP:0011448 | HP:0002541 | Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. |
| Inability to walk | HP:0002540 | None | Incapability to ambulate. |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Areflexia of lower limbs | HP:0002522 | None | Inability to elicit tendon reflexes in the lower limbs. |
| 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. |
| Language impairment | HP:0002463 | None | Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. |
| Nail dystrophy | HP:0008404 | HP:0008382,HP:0008397,HP:0008408 | Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. |
| Dystrophic fingernails | HP:0008391 | None | The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. |
| Abnormal toenail morphology | HP:0008388 | None | An anomaly of the toenail. |
| Localized skin lesion | HP:0011355 | None | A lesion of the skin that is located in a specific region rather than being generalized. |
| Regional abnormality of skin | HP:0011356 | None | An abnormality of the skin that is restricted to a particular body region. |
| Abnormality of mouth shape | HP:0011338 | None | An abnormality of the outline, configuration, or contour of the mouth. |
| Abnormal brainstem morphology | HP:0002363 | None | An anomaly of the brainstem. |
| Abnormality of cranial sutures | HP:0011329 | None | Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. |
| Abnormal cerebellar vermis morphology | HP:0002334 | None | An anomaly of the vermis of cerebellum. |
| Drowsiness | HP:0002329 | None | Abnormal feeling of sleepiness or difficulty staying awake. |
| Unsteady gait | HP:0002317 | None | None |
| 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. |
| 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. |
| Abnormal peripheral nervous system physiology | HP:0032120 | None | Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. |
| 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. |
| 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. |
| Clonus | HP:0002169 | None | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| 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 cerebral ventricle morphology | HP:0002118 | None | Any structural abnormality of the cerebral ventricles. |
| 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. |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Spastic gait | HP:0002064 | None | Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. |
| Lower limb spasticity | HP:0002061 | None | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Decreased corneal reflex | HP:0008000 | None | An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. |