Results 1 -
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139
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Autosomal recessive
- ... infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ... on PubMed Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, ...
- ... to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to the production of ... More About This Health Condition ARH ARH_HUMAN autosomal recessive hypercholesterolemia protein FHCB1 FHCB2 LDL receptor adaptor protein ...
- ... EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2009 Sep; ... mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. Br ...
- ... hearing loss characteristics.DFNB21 is inherited in an autosomal recessive pattern, which means both copies of the TECTA ... three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am ...
- ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means both copies of the MYO7A ... DFNB2 MYO7A_HUMAN myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) NSRD2 USH1B Tests of MYO7A PubMed MYOSIN ...
- ... Condition DJ-1 DJ1 PARK7_HUMAN Parkinson disease (autosomal recessive, early onset) 7 parkinson protein 7 Tests of ... Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003 Jan 10;299( ...
- ... This Health Condition FLJ21439 KIAA1840 spastic paraplegia 11 (autosomal recessive) SPATACSIN SPTCS_HUMAN Tests of SPG11 PubMed SPG11 ... SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371- ...
- ... MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests of OPA3 ...
- ... paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPG5C SPG7_HUMAN Tests of SPG7 PubMed SPG7 ...
