| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000298 | Mask-like facies | |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000505 | Impaired vision | |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000570 | Abnormality of saccadic eye movements | "An `abnormality of eye movement` (HP:0000496) characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000657 | Oculomotor apraxia | |
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| HP:0000750 | Impaired language development | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001310 | Dysmetria | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001350 | Slurred speech | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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| HP:0002168 | Scanning speech | |
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| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002346 | Head tremor | |
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| HP:0004414 | Abnormality of the pulmonary artery | |
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| HP:0006855 | Cerebellar vermis atrophy | |
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| HP:0007351 | Upper limb postural tremor | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0010862 | Delayed fine motor development | "A type of `motor retardation` characterized by an delay in acquiring the ability to control the fingers and hands." [HPO:probinson] |
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| HP:0012434 | Delayed social development | "A failure to meet one or more age-related milestones of social behavior." [HPO:probinson] |
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| HP:0025405 | Visual fixation instability | "A deficit in the ability to fixate eye movements in order to stabilize images on the retina" [] |
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| HP:0100022 | Abnormality of movement | "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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