| 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:0000238 | Hydrocephalus | |
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| HP:0000365 | Hearing loss | |
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| HP:0000618 | Blindness | |
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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:0000648 | Optic atrophy | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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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:0001276 | Hypertonia | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0002013 | Vomiting | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002191 | Spasticity, progressive | |
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| HP:0002333 | Motor deterioration | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002376 | Developmental regression | |
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| HP:0002506 | Diffuse cerebral atrophy | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0006801 | Hyperactive deep tendon reflexes | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007305 | Cns demyelination | |
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| HP:0007928 | Abnormal flash visual evoked potentials | |
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| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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| HP:0025013 | Decerebrate rigidity | "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [UToronto:chum] |
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