All individuals with variants in gene COG4

15 entries on 1 page. Showing entries 1 - 15.
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AscendingIndividual ID     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00184280 30290151-Pat1.1 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes United States - - - - - SWILS see paper; ... 1 9 Johan den Dunnen
00184283 30290151-Pat2 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes United States - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184284 30290151-Pat3 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes Germany - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184285 30290151-Pat4 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes Brazil - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184286 30290151-Pat5.1 PubMed: Ferreira 2018 2-generation family, affected BROTHERS, unaffected non-carrier parents M yes United States - - - - - SWILS see paper; ... 1 2 Johan den Dunnen
00184287 30290151-Pat5.2 PubMed: Ferreira 2018 Pat5.2 M yes United States - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184288 30290151-Pat6 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes United States - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184289 30290151-Pat7 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes United States - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184290 30290151-Pat8 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes Sweden - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184291 30290151-Pat9 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes Canada - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184292 30290151-Pat10 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes Denmark - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184293 30290151-Pat11 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes - Hispanic - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184294 30290151-Pat12 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents M yes United States - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
00184295 30290151-Pat13 PubMed: Ferreira 2018 2-generation family, 1 affected, unaffected non-carrier parents F yes Korea - - - - - SWILS see paper; ... 1 1 Johan den Dunnen
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 1 1 Johan den Dunnen
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