Disease #05250 (PAP (polydactyly, postaxial (PAP)))

Official abbreviation PAP
Name polydactyly, postaxial (PAP)
OMIM ID -
Inheritance -
Individuals reported having this disease 21
Phenotype entries for this disease 19
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2017-03-30 19:25:51 +02:00 (CEST)
Date last edited N/A


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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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 - 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 - - - - 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 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - PAP Bilateral postaxial polydactyly-B of hands. Unilaeral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 3 Adrian Palencia Campos
00248349 228 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Spain - - - - - PAP Unilateral postaxial polydactyly-B of the left hand Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248350 291 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Turkey - - - - - PAP Unilateral postaxial polydactyly-A of the left hand Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248351 191 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Spain - - - - - PAP Unilateral postaxial polydactyly-B of the left hand Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248363 224 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - PAP Unilateral postaxial polydactyly-A of the right hand. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248364 292 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Turkey - - - - - PAP Unilateral postaxial polydactyly-A of the left foot Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248365 203 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Turkey - - - - - PAP Bilateral postaxial polydactyly-A of hands. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248366 195 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - PAP Unilateral postaxial polydactyly-A of the left foot Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248367 293 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Turkey - - - - - PAP Bilateral postaxial polydactyly-B of hands. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248368 254 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - PAP Unilateral postaxial polydactyly-A of the right hand. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 1 Adrian Palencia Campos
00248369 183 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - PAP Proband 183: Unilateral postaxial polydactyly-A of the right foot. Sibling of proband 183: Bilateral postaxial polydactyly-B of the hands. Autosomal dominant inheritance with incomplete penetrance GLI1 GLI1 1 2 Adrian Palencia Campos
00296442 Fam1PatII1 (P1) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 03y - - - PAP see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; no microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; no syndactyly; no cardiac defect; Hirschsprung disease - SMO 2 1 Sophie Thomas
00302557 Fam2PatII1 (P2) PubMed: Le 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - PAP see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease SOX6 SMO 2 2 Sophie Thomas
00302558 Fam2PatII2 (P3) PubMed: Le 2020 brother M - - - - - - - PAP see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; no microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 2/3 syndactyly; no cardiac defect; no Hirschsprung disease SOX6 - - 1 Sophie Thomas
00302559 Fam3PatII1 (P4) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - - - - - PAP see paper; ..., mild psychomotor development delay; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; dysmorphic facial features; chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease SOX6 SMO 1 1 Sophie Thomas
00302560 Fam4PatII4 (P5) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - PAP see paper; ..., normal psychomotor development; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; no dysmorphic facial features; moderate chest and rib abnormalities; postaxial polydactyly; no syndactyly; cardiac defect; no Hirschsprung disease SOX6 SMO 2 1 Sophie Thomas
00302561 Fam5PatII2 (P6) PubMed: Le 2020 2-generation family, affected twins, unaffected heterozygous carrier parents M yes France - 3m - - - PAP see paper; ..., deceased, no gelastic epilepsy; no microcephaly; no dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 2/3 syndactyly; cardiac defect; no Hirschsprung disease SOX6 - - 2 Sophie Thomas
00302562 Fam5PatII3 (P7) PubMed: Le 2020 twin F yes France - - - - - PAP see paper; ..., normal psychomotor development; no gelastic epilepsy; no microcephaly; no dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 2/3 syndactyly; cardiac defect; no Hirschsprung disease SOX6 SMO 1 1 Sophie Thomas
00384519 - Journal: Umair 2021 - M - Saudi Arabia - - - - - PAP - GLI1 - - 1 Muhammad Umair
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