| 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:0000617 | Abnormality of ocular smooth pursuit | "An `abnormality of eye movement` (HP:0000496) characterized by impaired smooth-pursuit 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:0001249 | Mental retardation | |
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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:0001272 | Cerebellar atrophy | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002078 | Truncal ataxia | |
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| HP:0002317 | Unsteady gait | |
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| HP:0003677 | Slow progression | |
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| HP:0007772 | Impaired smooth pursuit in adult patients | |
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| HP:0007979 | Gaze-evoked horizontal nystagmus | "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
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