Etiology:
Pyruvate dehydrogenase deficiency
Home > Keywords > Physiopathological pathways > Malformative diseases
Malformative diseases
Malformative pathway
Articles
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rhizomelic limbs
28 May 2003 -
limb deficiency defects
16 October 2006LDD, fetal limb deficiency defect
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otopalatodigital syndrome type 2
15 May 2008OPD2
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autosomal recessive microtia
9 April 2008See also
Ears
microtia/anotia
References
Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G. A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family. Am J Hum Genet. 2008 Apr;82(4):982-91. PMID: #18394579# -
split-hand/foot malformation with long bone deficiencies
18 December 2007SHFLDs
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CHARGE association
20 September 2004CHARGE syndrome, CHARGE disease, CHARGE association
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Van der Woude syndrome
12 December 2004VWS
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Simpson-Golabi-Behmel syndrome
10 February 2004SGBS, Bulldog syndrome, X-linked dysplasia gigantism syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome
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familial megacalyces
21 March 2007familial non-syndromal megacalyces
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VATER association
17 May 2004VACTERL association, VACTER association