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"Deafness," autosomal recessive 30
- ... not show signs and symptoms of the condition. Autosomal recessive sensorineural hearing ... Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/ ...
- ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
- ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. ...
- ... type chloride channel accessory beta subunit BSND_HUMAN deafness, autosomal recessive 73 DFNB73 Tests of BSND PubMed BARTTIN CLCNK- ...
- ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen ...
- ... basement membrane nephropathy). ... Registry: Autosomal recessive Alport syndrome Genetic Testing Registry: X-linked Alport ...
- ... include nearsightedness as a feature. These conditions include autosomal recessive congenital ... ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. CS Dwarfism-retinal atrophy-deafness syndrome Genetic Testing Registry: Cockayne syndrome Cockayne syndrome ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... megaloblastic anemia syndrome National Organization for ...
