Results 1 -
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"Deafness," autosomal dominant 15
- ... RECESSIVE 13; DFNB13 DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15 DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A DEAFNESS, AUTOSOMAL ...
- ... Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/ ...
- ... DOMINANT; MYP12 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 MYOPIA 20, AUTOSOMAL DOMINANT; MYP20 MYOPIA 19, ...
- ... National Organization for Rare Disorders (NORD) KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE; KIDAR ...
- ... bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome. PAX3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... Organization for Rare Disorders (NORD) KERATODERMA, PALMOPLANTAR, WITH DEAFNESS PubMed Birkenhager R, Lublinghoff N, Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability ...
- ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
- ... syndrome. SALL1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Anal-ear-renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate anus-hand ...
- ... people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... GJB2 LORICRIN ... Congenital deafness with keratopachydermia and constrictions of fingers and toes ...
