Disease #04035 (SRTD10 (dysplasia, thoracic, short-rib, type 10 with/without polydactyly (SRTD-10)), OMIM:615630)

Official abbreviation SRTD10
Name dysplasia, thoracic, short-rib, type 10 with/without polydactyly (SRTD-10)
OMIM ID 615630
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene IFT172
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00412571 NPH2218 PubMed: Halbritter 2013 - F no - Hungarian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, short long bone; renal disease (end-stage): nephronophthisis (6y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability, obesity IFT172 BBS9, IFT172 2 1 LOVD
00412572 A3189-21 PubMed: Halbritter 2013 - F yes - Pakistani - - - - SRTD10 skeletal features: short stature; renal disease (end-stage): nephronophthisis (9y); other clinical features:retinal degeneration, intellectual disability, died at 12 years IFT172 BBS9, IFT172 1 1 LOVD
00412573 UCL-87 PubMed: Halbritter 2013 - M yes - Turkish - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly (feet); renal disease (end-stage): none; other clinical features:liver fibrosis, died at 18 months IFT172 BBS9, IFT172 1 1 LOVD
00412574 UCL-107 PubMed: Halbritter 2013 - M no - Turkish - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum; renal disease (end-stage): none; other clinical features:liver fibrosis, died at 3 months IFT172 BBS9, IFT172 1 1 LOVD
00412575 NPH2161 PubMed: Halbritter 2013 - F no - French - - - - SRTD10 skeletal features: brachydactyly; renal disease (end-stage): nephronophthisis (34y); other clinical features:retinal degeneration, cholestasis IFT172 BBS9, IFT172, KRTCAP3 2 1 LOVD
00412576 B1 PubMed: Halbritter 2013 - F no - Belgian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, PSCE, brachydactyly, polydactyly; renal disease (end-stage): none; other clinical features:retinal degeneration, intellectual disability IFT172 BBS9, IFT172, KRTCAP3 2 1 LOVD
00412577 SKDP-44.3 PubMed: Halbritter 2013 - M no - British - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, short stature, brachydactyly; renal disease (end-stage): mild structural abnormalities; other clinical features:retinal degeneration, cholestasis, ocular motor apraxia, intellectual disability, obesity IFT172 BBS9, IFT172, KRTCAP3 2 1 LOVD
00412578 A3215-21 PubMed: Halbritter 2013 - M no - South American - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), short stature, genu valgum; renal disease (end-stage): nephronophthisis (12y), renal transplantation (13y); other clinical features:intellectual disability IFT172 BBS9, IFT172 2 1 LOVD
00412579 F108-21 PubMed: Halbritter 2013 - F no - German - - - - SRTD10 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (11y); other clinical features:retinal degeneration, liver fibrosis, impaired glucose tolerance, obesity IFT172 BBS9, IFT172 2 1 LOVD
00412580 SKDP-165. PubMed: Halbritter 2013 - F no - Singaporean and Malaysian - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, polydactyly, short long bone; renal disease (end-stage): early cystic dysplasia; other clinical features:liver fibrosis, ventriculoseptal defect, hydrocephalus, induced abortion IFT172 BBS9, IFT172 2 1 LOVD
00412581 A2052-21 PubMed: Halbritter 2013 - F yes - Filipino - - - - SRTD10 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum, phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (2y), renal transplantation (4y); other clinical features:retinal degeneration, liver fibrosis, ocular motor apraxia, cerebellar vermis hypoplasia, intellectual disability IFT172 BBS9, IFT172 1 1 LOVD
00412582 A2052-22 PubMed: Halbritter 2013 - M yes - Filipino - - - - SRTD10 - IFT172 BBS9, IFT172 1 1 LOVD
00412583 A3037-21 PubMed: Halbritter 2013 - M no - European American - - - - SRTD10 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (20y); other clinical features:retinal degeneration, liver fibrosis, obesity IFT172 BBS9, IFT172, KRTCAP3 2 1 LOVD
00412584 A3037-22 PubMed: Halbritter 2013 - M no - European American - - - - SRTD10 - IFT172 BBS9, IFT172, KRTCAP3 2 1 LOVD
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