All individuals with variants in gene WDR87

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
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00441893 Fam26 PubMed: Khan 2015 2-generation family, 2 affected sisters (2F) - yes Saudi Arabia - - - - - CTRCT congenital cataract, total white 1 2 Johan den Dunnen
00443877 FamDPatV2 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Iran - - - - - DEE see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal 1 2 Johan den Dunnen
00443878 FamDPatV3 PubMed: Chatron 2020 sister F yes Iran - - - - - DEE see paper; ..., 7d-epileptic spasms, myoclonic seizure; no seizures reported for 2 m; EEG at onset suppression-burst pattern/burst attenuation; axial hypotonia, mild dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain posterior cervical junction notch 1 1 Johan den Dunnen
00444965 12DG2386 PubMed: Patel 2017 2-generation family, 2 affected sisters, unaffected heterozygous parents F - - - - - - - CTRCT congenital cataract; not syndromic 1 2 Johan den Dunnen
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