Results 1 -
10
of
24
for
"Deafness," autosomal recessive 9
- ... RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A DEAFNESS, AUTOSOMAL ...
- ... on PubMed Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive ... Dec;20(4):366-9. doi: 10.1038/3840. Citation on PubMed Scott ...
- ... deafness-infertility syndrome. More About This Health Condition deafness, autosomal recessive 16 DFNB16 STRC_HUMAN Tests of STRC PubMed ...
- ... alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3): ...
- The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
- ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic ...
- ... with deafness-infertility syndrome. CATSPER2 STRC chromosome 15 Deafness-infertility syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 ...
- ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED ...
- ... not show signs and symptoms of the condition. Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter Deafness with goiter Goiter-deafness syndrome Pendred's syndrome ...