Disease #05250

Official abbreviation PAP
Name polydactyly, postaxial (PAP)
OMIM ID -
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00131949 414 PubMed: Salpietro 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Italy white >30y 0 yes none PAP intellectual disability (HP:0001249), epilepsy (HP:0001250), neuropathy (HP:0009830), leukoencephalopathy (HP:0002352) - DDX59 1 2 Stephanie Efthymiou
00131956 - - - F ? China Chinese - 0 - - PAP hands bilateral post-axial polydactyly type B, feet bilateral post-axial polydactyly type A, wessel II pre-axial polydactyly in left feet GLI3, LMBR1, SHH GLI3 1 1 Rao Chunbao
00248346 227 - - F no Spain - - 0 - - PAP - GLI1 - 0 3 Adrian Palencia Campos
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