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Results 21 - 30 of 75 for Autosomal anomaly
  1. Trichohepatoenteric syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of ... with phenotypic anomalies Phenotypic diarrhea of infancy SD/THE Syndromic diarrhea ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  2. Familial porencephaly 
    ... each cell is sufficient to cause the disorder. Autosomal dominant porencephaly type 1 Infantile hemiplegia with ... PubMed Breedveld G, de Coo IF, Lequin ...
    https://medlineplus.gov/genetics/condition/familial-porencephaly - Genetics
  3. 3MC syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one ... with lid anomalies Malpuech facial clefting syndrome Malpuech syndrome Michels syndrome ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  4. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 
    Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder ...
    https://medlineplus.gov/...ression-rieger-anomaly-and-teething-delay - Genetics
  5. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... syndrome Leukoencephalopathy with thalamus and brainstem ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  6. Townes-Brocks Syndrome 
    ... syndrome. SALL1 ... thumbs syndrome Imperforate anus-hand and foot anomalies syndrome Renal-ear-anal-radial syndrome (REAR) Sensorineural ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  7. Renal coloboma syndrome 
    ... unknown. PAX2 ... ONCR Optic coloboma, vesicoureteral reflux, and renal anomalies Optic nerve coloboma renal syndrome Papillorenal syndrome RCS ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  8. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This condition ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  9. Congenital anomalies of kidney and urinary tract 
    Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures ... in their family. CAKUT Genetic Testing Registry: Congenital anomaly of kidney and urinary tract National Organization for ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics
  10. Fukuyama congenital muscular dystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Muscular dystrophy- ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
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