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Results 31 - 40 of 75 for Autosomal anomaly
  1. Duane-radial ray syndrome 
    ... amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions. SALL4 This condition is inherited in an autosomal dominant pattern, which means one copy of the ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  2. Walker-Warburg syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry ... brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy [with brain and ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  3. Genitopatellar syndrome 
    ... of genitopatellar syndrome. KAT6B ... GPS Genetic Testing ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  4. Atypical hemolytic-uremic syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... syndrome with B factor anomaly Genetic Testing Registry: Atypical hemolytic-uremic syndrome with ...
    https://medlineplus.gov/.../atypical-hemolytic-uremic-syndrome - Genetics
  5. Microphthalmia 
    ... inheritance pattern for that condition, which may be autosomal recessive or other patterns.Often microphthalmia is not inherited, and there is only one ... ISOLATED 1; MCOP1 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY; ODRMD MICROPHTHALMIA/ ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  6. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal ... congenita, and genital anomalies. J Clin Endocrinol Metab. 1999 Dec;84(12): ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  7. KBG syndrome 
    ... mental retardation, characteristic facies, short stature, and skeletal anomalies Short stature, characteristic facies, macrodontia, mental retardation, and ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  8. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  9. Cytochrome P450 oxidoreductase deficiency 
    ... use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene ... This condition is inherited in an autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  10. Gorlin-Chaudhry-Moss syndrome 
    ... hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence Craniofacial dysostosis, ... hypertrichosis, hypoplasia of labia majora, dental and eye anomalies GCM syndrome GCMS Gorlin Chaudhry Moss syndrome Genetic ...
    https://medlineplus.gov/.../condition/gorlin-chaudhry-moss-syndrome - Genetics
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