Disease #04227 (BD (brachydactyly (BD)))

Official abbreviation BD
Name brachydactyly (BD)
OMIM ID -
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-03-14 21:49:37 +01:00 (CET)
Date last edited N/A


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00034378 - PubMed: Racacho 2015, Journal: Racacho 2015 2-generation family, affected male with unaffected carrier mother (reduced penetrance?) M no - African - - - - BD mixed BDA1-arachnodactyly condition BMPR1B BMPR1B 1 2 Dennis E. Bulman
00100191 - PubMed: Sun 2016 3-generation family, affected proband, father and uncle M - (China) - - - - - BD - HDAC4, TRPS1 ERCC2, HDAC4, KMT2D, TP63, TRPS1 5 3 Arrate Pereda
00107535 FAM53-412 PubMed: Yildrim 2018 family, 7 affecteds (3M, 4F), parents first cousins M yes Algeria - >31y - Yes - BD, INFM male infertility (HP:0003251), azoospemia (HP:0000027), Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), thumb brachydactyly (HP:0009778), short 2nd finger (HP:0009536), 5th finger brachydactyly (HP:0009237), camptodactyly of the 3rd finger (HP:0009471), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) - ANK2, BMPR1B, PDHA2 3 7 Yeşerin Yıldırım
00133223 FAM53-401 PubMed: Yildrim 2018 - M yes Algeria - >43y - - - BD, INFM male infertility (HP:0003251), oligospermia (HP:0000798), asthenospermia (HP:0012207), Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), symphalangism of the 4th finger (HP:0009857), no symphalangism of the 5th finger (-HP:0004218), thumb brachydactyly (HP:0009778), 5th finger camptodactyly (HP:0009185), curved phalanges of the 2nd finger (HP:0009549), curved phalanges of the 3rd finger (HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133226 FAM53-406 PubMed: Yildrim 2018 - M yes Algeria - >37y - - - BD, INFM male infertility (HP:0003251), azoospemia (HP:0000027), no symphalangism of the thumb (-HP:0009656), Symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), no hallux valgus (-HP:0001822), 2-3 toe syndactyly (HP:0004691), short 5th toe (HP:0011917), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133227 FAM53-408 PubMed: Yildrim 2018 - F yes Algeria - >36y - - - BD, INFM Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), no thumb brachydactyly (-HP:0009778), crowded carpal bones unknown (?HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), no short 5th toe (-HP:0011917), duplication of the phalanges of the 2nd toe unknown (?HP:0010355), aplasia/hypoplasia of the phalanges of the toes unknown (?HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133228 FAM53-302 PubMed: Yildrim 2018 - F yes Algeria - >62y - - - BD no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), no crowded carpal bones (-HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133229 FAM53-409 PubMed: Yildrim 2018 brother M yes Algeria - >43y - - - BD, INFM no male infertility (-HP:0003251), no azoospemia (-HP:0000027), no oligospermia (-HP:0000798), no asthenospermia (-HP:0012207), Nonmotile sperm (HP:0012208), no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778), no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (-HP:0001822), no 2-3 toe syndactyly (-HP:0004691), no camptodactyly of 3rd toe (-HP:0100349), no camptodactyly of the 4th toe (-HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00133230 FAM53-413 PubMed: Yildrim 2018 - M yes Algeria - >30y - - - BD, INFM male infertility unknown (?HP:0003251), azoospemia unknown (?HP:0000027), oligospermia unknown (?HP:0000798), asthenospermia unknown (?HP:0012207), Nonmotile sperm unknown (?HP:0012208), no symphalangism of the thumb (-HP:0009656), no symphalangism of the 2nd finger (-HP:0009545),no symphalangism of the 3rd finger (-HP:0009445), no symphalangism of the 4th finger (-HP:0009857), no symphalangism of the 5th finger (-HP:0004218), no thumb brachydactyly (-HP:0009778),no short 2nd finger (-HP:0009536), no 5th finger brachydactyly (-HP:0009237), no camptodactyly of the 3rd finger (-HP:0009471), no 5th finger camptodactyly (-HP:0009185), no curved phalanges of the 2nd finger (-HP:0009549), no curved phalanges of the 3rd finger (-HP:0009442), crowded carpal bones (HP:0006180), no short hallux (-HP:0010109), no broad hallux (-HP:0010055), no hallux valgus (HP:0001822), no 2-3 toe syndactyly (-HP:0004691), camptodactyly of 3rd toe (HP:0100349), camptodactyly of the 4th toe (HP:0100350), no short 5th toe (-HP:0011917), no duplication of the phalanges of the 2nd toe (-HP:0010355), no aplasia/hypoplasia of the phalanges of the toes (-HP:0010173) BMPR1B, PDHA2 BMPR1B, PDHA2 2 1 Yeşerin Yıldırım
00207697 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) F ? - - - - - - BD HP:0000545 (myopia magna); HP:0004322 PTHLH PTHLH 1 2 Arrate Pereda
00207698 - - - M ? - - - - - - BD HP:0005863 PTHLH PTHLH 1 1 Arrate Pereda
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