Results 1 -
6
of
6
for
"Deafness," autosomal recessive 61
- ... dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ...
- The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
- ... 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 ...
- ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated 2023 ...
- ... SUCLA2 SUCLG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
