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Results 31 - 40 of 564 for Autosomal dominant inheritance
  1. Floating-Harbor syndrome 
    ... in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol. 2012 Jan;21(1):11-14. ... patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr. 1995 Aug;154(8):658- ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  2. Cantú syndrome 
    ... woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J ... I, Bitar WE, de Lourdes Ramirez-Duenas M. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  3. Robinow syndrome 
    ... not show signs and symptoms of the condition.Autosomal dominant inheritance means one copy of an altered gene in ... a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 ... or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  4. Osteopetrosis 
    ... of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered ... Z, Wang C. Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center ... eCollection 2022. Citation on PubMed
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  5. Atypical hemolytic-uremic syndrome 
    ... dominant or an autosomal recessive pattern of inheritance.Autosomal dominant inheritance means one copy of an altered gene in ... one affected parent. However, most people with the autosomal dominant form of ... a gene mutation will develop the signs and symptoms of the disease, ...
    https://medlineplus.gov/.../atypical-hemolytic-uremic-syndrome - Genetics
  6. Arginine vasopressin resistance 
    ... show signs and symptoms of the condition. In autosomal dominant inheritance, one altered copy of the AQP2 gene in each cell is sufficient to cause the disorder. ... nephrogenic, autosomal Genetic Testing Registry: Diabetes insipidus, nephrogenic, X-linked ...
    https://medlineplus.gov/.../arginine-vasopressin-resistance - Genetics
  7. Combined pituitary hormone deficiency 
    ... dominant or an autosomal recessive pattern of inheritance.Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder.Autosomal recessive inheritance means both copies of a gene ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  8. Hartsfield syndrome 
    ... autosomal dominant or autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  9. Autosomal dominant hyper-IgE syndrome 
    ... to cause the disorder (which is known as autosomal dominant inheritance). In contrast, when the ZNF341 gene is involved, ... the condition. STAT3 ZNF341 AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of the altered gene ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  10. Retinitis pigmentosa 
    ... TTC8 TULP1 ZNF513 Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
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