| 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:0000253 | Microcephaly, progressive | "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] |
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| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
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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: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:0001276 | Hypertonia | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001622 | Premature birth | |
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| HP:0001903 | Anemia | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002317 | Unsteady gait | |
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| HP:0003785 | Decreased CSF homovanillic acid (HVA) | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
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