Phenotypes for disease #05250 (PAP (polydactyly, postaxial (PAP)))

19 entries on 1 page. Showing entries 1 - 19.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000104167 intellectual disability (HP:0001249), epilepsy (HP:0001250), neuropathy (HP:0009830), leukoencephalopathy (HP:0002352) - - Familial, autosomal recessive 20y-30y 03y - - Stephanie Efthymiou 00131949
0000104174 hands bilateral post-axial polydactyly type B, feet bilateral post-axial polydactyly type A, wessel II pre-axial polydactyly in left feet - - Unknown 10y-20y - - - Rao Chunbao 00131956
0000187345 Unilateral postaxial polydactyly-B of the left hand Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248349
0000187346 Unilateral postaxial polydactyly-A of the left hand Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248350
0000187347 Unilateral postaxial polydactyly-B of the left hand Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248351
0000187359 Unilateral postaxial polydactyly-A of the right hand. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance - - Unknown - - - - Adrian Palencia Campos 00248363
0000187360 Unilateral postaxial polydactyly-A of the left foot Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248364
0000187361 Bilateral postaxial polydactyly-A of hands. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248365
0000187362 Unilateral postaxial polydactyly-A of the left foot Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248366
0000187363 Bilateral postaxial polydactyly-B of hands. Unilateral postaxial polydactyly-A of the left foot. Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248367
0000187364 Unilateral postaxial polydactyly-A of the right hand. Autosomal dominant inheritance with incomplete penetrance - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248368
0000187365 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 - - Familial, autosomal dominant - - - - Adrian Palencia Campos 00248369
0000229638 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 postaxial polydactyly - Familial, autosomal recessive 03y - - - Sophie Thomas 00296442
0000229639 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 postaxial polydactyly - Familial, autosomal recessive 7y - - - Sophie Thomas 00302557
0000229640 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 postaxial polydactyly - Familial, autosomal recessive 4y - - - Sophie Thomas 00302558
0000229641 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 eune asphyxiating thoracic dysplasia - Familial, autosomal recessive 5y - - - Sophie Thomas 00302559
0000229642 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 EVC syndrome - Familial, autosomal recessive 8y - - - Sophie Thomas 00302560
0000229643 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 postaxial polydactyly - Familial, autosomal recessive 3m - - - Sophie Thomas 00302561
0000229644 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 postaxial polydactyly - Familial, autosomal recessive 8y - - - Sophie Thomas 00302562
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