All individuals with variants in gene VPS51

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AscendingIndividual ID     
ID_report     
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Remarks     
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Age at death     
VIP     
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Phenotype details     
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Owner     
00385104 patient PubMed: Gershlick 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - NDD see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres 2 1 Johan den Dunnen
00385105 family PubMed: Uwineza 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Rwanda - - - - - NDD see paper; ..., delayed psychomotor development, absent speech, severe intellectual disability, postnatal microcephaly, brain malformations, cerebellar atrophy (1/2), hypoplastic corpus callosum (1/2) 1 2 Johan den Dunnen
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