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Results 51 - 60 of 75 for Autosomal anomaly
  1. Frontonasal dysplasia 
    ... Testing Registry: Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia National Organization for Rare Disorders (NORD) ... and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  2. Congenital fibrosis of the extraocular muscles 
    ... syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005 ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  3. Greenberg dysplasia 
    ... K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear ... Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by ...
    https://medlineplus.gov/genetics/condition/greenberg-dysplasia - Genetics
  4. Manitoba oculotrichoanal syndrome 
    ... eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet. 1992 ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
  5. ELN gene 
    ... Schaefer GB, Collins RT 2nd. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  6. Senior-Løken syndrome 
    ... Ghiggeri GM. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  7. Miller syndrome 
    ... F, Kjaer KW, Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  8. Microcephaly-capillary malformation syndrome 
    ... capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A. 2011 Feb;155A( ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  9. DNAJC19 gene 
    ... and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. ... D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation ...
    https://medlineplus.gov/genetics/gene/dnajc19 - Genetics
  10. Parkes Weber syndrome 
    ... Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008 ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
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