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Results 1 - 10 of 10 for Hearing "loss," autosomal dominant 74
  1. Dentinogenesis imperfecta 
    ... whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II. DSPP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta - Genetics
  2. LRP5 gene 
    ... These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these conditions can cause abnormal bone growth and related skeletal abnormalities. Rarely, affected individuals have hearing loss or circulation problems in the brain. Other people ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  3. Tietz syndrome 
    ... of melanocytes in the inner ear leads to hearing loss. Decreased melanin production (hypopigmentation) ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/tietz-syndrome - Genetics
  4. TWNK gene 
    ... PEO1 (Twinkle)-linked adPEO. Neurology. 2010 May 18;74(20):1619-26. doi: ... progressive external ophthalmoplegia lead to impaired helicase function ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. Osteopetrosis 
    ... are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the ... by the severity of their signs and symptoms.Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  6. Alport syndrome 
    ... by hematuria. Alport syndrome is inherited in an autosomal dominant pattern in about 20 to 30 percent of ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have only hematuria (thin ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  7. Cornelia de Lange syndrome 
    ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  8. Williams syndrome 
    ... with Williams syndrome.Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  9. Cerebral cavernous malformation 
    ... unknown. CCM2 KRIT1 PDCD10 This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/.../cerebral-cavernous-malformation - Genetics
  10. Crouzon syndrome with acanthosis nigricans 
    ... nigricans. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/...rouzon-syndrome-with-acanthosis-nigricans - Genetics