| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000543 | Pale optic disks | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001344 | Absent speech development | |
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| HP:0002070 | Limb ataxia | |
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| HP:0002133 | Status epilepticus | |
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| HP:0002376 | Developmental regression | |
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| HP:0002465 | Poor speech | |
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| HP:0002521 | Hypsarrhythmia | "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators] |
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| HP:0002540 | Inability to walk | |
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| HP:0003828 | Variable expressivity | |
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| HP:0005484 | Microcephaly, postnatal | |
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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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| HP:0010841 | Multifocal EEG abnormality | "A abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012450 | Chronic constipation | "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] |
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| HP:0100704 | Cortical visual impairment | "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] |
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| HP:0200134 | Epileptic encephalopathy | |
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