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Results 1 - 10 of 270 for Congenital abnormalities
  1. 17q12 deletion syndrome 
    17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  2. Burn-McKeown syndrome 
    ... is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  3. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  4. Microvillus inclusion disease 
    ... Congenital familial protracted diarrhea with enterocyte brush-border abnormalities Congenital microvillous atrophy Davidson disease Familial protracted enteropathy Intractable ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  5. Kleefstra syndrome 
    ... with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  6. Congenital anomalies of kidney and urinary tract 
    ... the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life. ... early embryonic development may underlie the urinary system abnormality. These cases occur in people with no history of the disorder in their family. ... Testing Registry: Congenital anomaly of kidney and urinary tract National Organization ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  7. CUL3-related neurodevelopmental disorder 
    ... go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3- ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  8. Recombinant 8 syndrome 
    ... 8 syndrome is a condition that involves complex congenital heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  9. POMT2 gene 
    ... N, Guicheney P. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  10. TXNL4A gene 
    ... syndrome, a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
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