All individuals with variants in gene PIGH

4 entries on 1 page. Showing entries 1 - 4.
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00050297 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00154934 1 PubMed: Nguyen et al., 2018 Proband is the only child of a consanguineous couple of Indian origin (second cousins). M yes India Indian - 0 - - ID Two episodes of febrile seizures at the age of 17 months, but these did not recur. Hypotonia, moderate global developmental delay and autism at 2.5 years old. High palate and slight hirsutism. Low ferritin, but normal total iron binding capacity. Normal serum ALP level. EEG and brain MRI were normal. He did not have abnormal digits or nails on the hands and feet. 1 1 Philippe Campeau
00163846 IV-1 PubMed: Pagnamenta 2018 DECIPHER ID 265247 M yes - Pakistani - 0 - - epilepsy, microcephaly, developmental delay - 1 2 Philippe Campeau
00163847 IV-2 PubMed: Pagnamenta 2018 - F yes - Pakistani - 0 - - epilepsy, microcephaly, developmental delay - 1 1 Philippe Campeau
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