| 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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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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: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: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:0001939 | Metabolism abnormality | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002133 | Status epilepticus | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002169 | Clonus | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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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:0002465 | Poor speech | |
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| HP:0005484 | Microcephaly, postnatal | |
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| HP:0012444 | Brain atrophy | "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
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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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