| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [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:0000711 | Restlessness | |
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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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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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:0001522 | Death in infancy | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002171 | Gliosis | |
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| HP:0002179 | Opisthotonus | |
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| HP:0002365 | Hypoplasia of the brainstem | |
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| HP:0002518 | Periventricular white matter changes | |
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| HP:0002803 | Congenital contractures | |
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| HP:0003577 | Onset at birth | |
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| HP:0003819 | Death in childhood | |
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| HP:0006955 | Olivopontocerebellar hypoplasia | |
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| HP:0007001 | Loss of purkinje cells in the cerebellar vermis | |
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| HP:0007105 | Infantile encephalopathy | |
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| HP:0007308 | Extrapyramidal dyskinesia | |
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| HP:0007772 | Impaired smooth pursuit in adult patients | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0012110 | Hypoplasia of the pons | "Underdevelopment of the `pons` (FMA:67943)." [HPO:probinson] |
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