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"Deafness," autosomal dominant 18
- ... in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder include ...
- ... LINKED; MYP1 MYOPIA 13, X-LINKED; MYP13 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 MYOPIA 6; MYP6 MYOPIA 17, AUTOSOMAL DOMINANT; ...
- ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have ... syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
- ... mutations. MITF ... Albinism and complete nerve deafness Albinism-deafness of Tietz Hypopigmentation-deafness syndrome Hypopigmentation/ ...
- ... paralyzed facial muscles (facial nerve palsy), blindness, or deafness.The x-rays of ... Craniometaphyseal dysplasia is a ...
- ... IE. DNMT1 ... disorder DNMT1-related dementia, deafness, and sensory neuropathy Hereditary sensory and autonomic neuropathy ...
- BOR Syndrome (Genetic and Rare Diseases Information Center)Birth Defects/Specifics ... Birth Defects ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
- Achondroplasia: About the Disease (Genetic and Rare Diseases Information Center)Dwarfism/Start Here ... Dwarfism ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about ...
- Campomelic dysplasia (Genetic and Rare Diseases Information Center)Birth Defects/Specifics ... Birth Defects ... Bone Diseases/Children ... Bone Diseases ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health
- ... disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered ...