All individuals with variants in gene SHH

34 entries on 1 page. Showing entries 1 - 34.
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00294378 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 173 Mohammed Faruq
00300272 Pt5986 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y 0 - - HPE, HTX Left pulmonary isomerism, polysplenia, absent tail of pancreas, abdominal situs inversus, left cleft lip and palate, lobar holoproencephaly 1 1 Patrice Bouvagnet
00302565 Fam1 PubMed: Potuijt 2018 5-generation family, 18 affected (9F, 9M) F;M no Netherlands - - 0 - - PPD2 bilaterally triphalangeal thumb–polysyndactyly syndrome; at least one triphalangeal thumb on both hands, hands poly- and syndactylous block of digits anterior and posterior side, second and occasionally third digit present between both blocks; postaxial syndactyly and polydactyly both feet in patients V-4, V-5, and V-6; no other congenital anomalies 1 18 Johan den Dunnen
00305137 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00308721 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00316184 K9 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - 0 - - CAKUT bilateral kidney agenesis 1 2 Johan den Dunnen
00363791 G408 PubMed: Huang 2015 family F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00387359 family PubMed: Zguricas 1999, PubMed: Lettice 2003 9-generation family, 96 affected F;M no Netherlands - - 0 - - PPD see paper; ..., preaxial polydactyly 1 96 Johan den Dunnen
00387360 FamBel1 PubMed: Lettice 2003 4-generation family, 8 affected (4F, 4M) F;M no Belgium - - 0 - - PPD see paper; ..., preaxial polydactyly 1 8 Johan den Dunnen
00387361 FamBel2 PubMed: Lettice 2003 4-generation family, 6 affected (F, 5M) F;M yes Belgium - - 0 - - PPD see paper; ..., preaxial polydactyly 1 6 Johan den Dunnen
00387362 FamCub PubMed: Lettice 2003 family, 6 affected - - Cuba - - 0 - - PPD see paper; ..., preaxial polydactyly, tibial aplasia 1 6 Johan den Dunnen
00387363 Fam1PatIII2 PubMed: Wieczorek 2010 4-generation family, affected father/son M - Turkey - - 0 - - PPD see paper; ..., short stature (height 135 cm (–6.7 SD)), tibial hypoplasia, preaxial polydactyly both hands, femora mildly shortened, lower legs severely shortened, preaxial polydactyly both feet; father father only right-sided preaxial polydactyly hand 1 2 Johan den Dunnen
00387365 Fam2 PubMed: Wieczorek 2010 3-generation family, 10 affected F;M - Brazil - - 0 - - ? see paper; ..., triphalangeal thumbs, preaxial polydactyly feet, tibial defects (2/10), duplicated fibulae (1/10) 1 2 Johan den Dunnen
00387366 Fam3 PubMed: Wieczorek 2010 - F - Germany - - 0 - - ? see paper; ..., complete cutaneous syndactyly all fingers, polydactyly, normal mental development 1 1 Johan den Dunnen
00387368 Fam4 PubMed: Wieczorek 2010 family, 6 affected - - Turkey - - 0 - - ? see paper; ..., triphalangeal thumb-polysyndactyly syndrome 1 6 Johan den Dunnen
00387376 Fam2PatII1 PubMed: Norbnop 2014 1-generation family, 1 affected F - Thailand - - 0 - - ? bilateral triphalangeal first fingers, preaxial digit right hand, right tibial hypoplasia, bilateral toe polydactyly, biphalangeal (left), triphalangeal (right), bifid great toe right 1 1 Johan den Dunnen
00387377 Fam1PatI1 PubMed: Norbnop 2014 3-generation family, 3 affecteds (grandfather, father, son) M - Thailand - - 0 - - ? bilateral triphalangeal first fingers, no polydactyly hand, right tibial hypoplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes 1 3 Johan den Dunnen
00387378 Fam1PatII1 PubMed: Norbnop 2014 father M - Thailand - - 0 - - ? bilateral triphalangeal first fingers, no polydactyly hand, bilateral tibial aplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes 1 1 Johan den Dunnen
00387379 Fam1PatIII1 PubMed: Norbnop 2014 son M - Thailand - - 0 - - ? bilateral triphalangeal first fingers, no polydactyly hand, bilateral tibial aplasia, bilateral toe polydactyly (triphalangeal), no syndactyly toes 1 1 Johan den Dunnen
00387380 Fam2PatVI2 PubMed: Ianakiev 2001 6-generation family, 4 affected (F/M) F yes Brazil - - 0 - - ACHP bilateral truncations distal humeri and the tibiae, absence fibulae, presence Bohomoletz bone at distal aspect humeri 1 4 Johan den Dunnen
00387404 Fam1PatV3 PubMed: Ianakiev 2001 5-generation family, 1 affected M yes Brazil - - 0 - - ACHP truncation distal humeri, absence Bohomoletz bone, truncation tibiae, absence fibulae 1 1 Johan den Dunnen
00387405 Fam4PatIV18 PubMed: Ianakiev 2001 4-generation family, 7 affected (4F, 3M) M yes Brazil - - 0 - - ACHP no feet, no hands, no forearms, some affected possess one digit implanted into each upper extremity, either unilaterally or bilaterally 1 7 Johan den Dunnen
00387406 Fam3PatII1 PubMed: Ianakiev 2001 2-generation family, 1 affected M yes Brazil - - 0 - - ACHP truncation distal humeri, absence Bohomoletz bone, truncation tibiae, absence fibulae 1 1 Johan den Dunnen
00387407 Fam5PatII1 PubMed: Ianakiev 2001 2-generation family, 1 affected F yes Brazil - - 0 - - ACHP small fingerlike appendages, bilaterally, on X-ray recognized as Bohomoletz bone 1 1 Johan den Dunnen
00387425 Fam1 PubMed: Sun 2008 6-generation family, 27 affected (11F, 16M) F;M - China Han - 0 - - ? no complete thumb duplication (21/21), partial thumb duplication (12/21), syndactyly fingers 4–5 (11/21), rudimentary postaxial polydactyly (11/21), triphalangeal thumb–polysyndactyly syndrome hand phenotype (5/21), triphalangeal thumbs (2/21), rudimentary postaxial polydactyly (2/21), no foot anomaly (21/21) 1 27 Johan den Dunnen
00387427 Fam2 PubMed: Sun 2008 5-generation family, 12 affected (8F, 4M) F;M - China Han - 0 - - ? typical TPTPS hand phenotype (1/12); complete syndactyly between index finger and duplicated thumbs with deformed distal phalanges, complete syndactyly fingers 3–5 (1/12); complete syndactyly all fingers resembling SD4 (10/12); unilateral syndactyly toes (1/12) 1 12 Johan den Dunnen
00387428 Fam3 PubMed: Sun 2008 5-generation family, 16 affected (9F, 7M) F;M - China Han - 0 - - ? typical triphalangeal thumb–polysyndactyly syndrome (1/7); complete duplication triphalangeal thumbs, complete syndactyly fingers 2–5 (1/12); almost complete syndactyly all six triphalangeal fingers (5/7)); bilateral or unilateral syndactyly toes 4–5 (3/7) 1 16 Johan den Dunnen
00387429 Fam4 PubMed: Sun 2008 4-generation family, 6 affected (3F, 3M) F;M - China Han - 0 - - ? typical triphalangeal thumb–polysyndactyly syndrome (3/4); partial syndactyly between index finger and duplicated thumbs, complete syndactyly fingers 3–5 (1/4) 1 6 Johan den Dunnen
00387430 Fam5 PubMed: Sun 2008 4-generation family, 2 affected sisters F - China Han - 0 - - ? cutaneous syndactyly all fingers, polydactyly 1 2 Johan den Dunnen
00387431 Fam6 PubMed: Wang 2007, PubMed: Sun 2008 5-generation family, 21 (5F, 16M) F;M - China Han - 0 - - ? see paper; ... 1 21 Johan den Dunnen
00387435 ?;FamA PubMed: Dobbs 2000, PubMed: Gurnett 2007 3-generation family, 19 affected (7F, 12M) F;M - United States - - 0 - - ? see paper; ... 1 19 Johan den Dunnen
00387437 FamC PubMed: Gurnett 2007 3-generation family, 3 affected (2F, M) F;M - United States - - 0 - - ? see paper; ..., triphalangeal thumb (2/3); bilateral triphalangeal thumb, polydactyly (1/3) 1 3 Johan den Dunnen
00387438 ?;FamB PubMed: Dobbs 2000, PubMed: Gurnett 2007 3-generation family, 9 affected (7F, 2M) F;M - United States - - 0 - - ? see paper; ... 1 9 Johan den Dunnen
00391785 131P - - M no Spain - - - - - HPE, HPE3, MCOPCB5 - 1 1 Alejandro Brea-Fernández
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