All individuals with variants in gene PDHA2

9 entries on 1 page. Showing entries 1 - 9.
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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) 1 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) 1 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) 1 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) 1 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) 1 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) 1 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) 1 1 Yeşerin Yıldırım
00403102 P0253 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - INFM left/right testis volume 10-15/10-15 mL; FSH 2.87 IU/L; testis hypospermatogenesis; sperm retrieval positive; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics 1 1 Johan den Dunnen
00403103 P0144 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - INFM left/right testis volume 10-15/10-15 mL; FSH 2.4 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics 1 1 Johan den Dunnen
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