All individuals with variants in gene UNC45A

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00155720 29429573-FamA PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - European - - - - ? language delay partially linked to severe bilateral perception deafness, no sign of bone fragility, no liver disease. 2 1 Johan den Dunnen
00155721 29429573-FamB PubMed: Esteve 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F no Tunisia - - - - - ? see paper; ... 3 2 Johan den Dunnen
00155722 29429573-FamC PubMed: Esteve 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - ? bone fragility (2 spontaneous fractures) with normal calcium phosphate, PTH, D vitamin levels; 2m-diarrhea requiring parenteral nutrition; recurrent episodes of cytolysis 2 1 Johan den Dunnen
00303426 Fam1 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303427 Fam2 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303428 Fam3 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303429 Fam4 Duclaux-Loras ESHG2020 C14.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00467708 patient PubMed: Thouqan 2025 2-generation family, 1 affected, unaffected heterozygous carrier parent M yes Palestine - - - - - ID see paper; ..., developmental delay, intellectual disability, characteristic facial dysmorphisms, triangular face, deep-set eyes, prominent forehead, no narrow/short palpebral fissure, deep-seated eyes, sparse eyebrows, malar hypoplasia, no strabismus, no hypertelorism, no prominent nose, broad nose, no short philtrum, low-set ears, full lips, no wide mouth 2 2 Johan den Dunnen
00467709 relative PubMed: Thouqan 2025 unaffected sister (3y) F - Palestine - - - - - Healthy/Control - 2 1 Johan den Dunnen
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