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

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000304565 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 asphyxiating thoracic dystrophy, Joubert syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412571
0000304566 skeletal features: short stature; renal disease (end-stage): nephronophthisis (9y); other clinical features:retinal degeneration, intellectual disability, died at 12 years Mainzer-Saldino syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412572
0000304567 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 asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412573
0000304568 skeletal features: thoracic dystrophy (small bell-shaped thorax), trident acetabulum; renal disease (end-stage): none; other clinical features:liver fibrosis, died at 3 months asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412574
0000304569 skeletal features: brachydactyly; renal disease (end-stage): nephronophthisis (34y); other clinical features:retinal degeneration, cholestasis Mainzer-Saldino syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412575
0000304570 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 asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412576
0000304571 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 asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412577
0000304572 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 asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412578
0000304573 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (11y); other clinical features:retinal degeneration, liver fibrosis, impaired glucose tolerance, obesity Mainzer-Saldino syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412579
0000304574 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 asphyxiating thoracic dystrophy dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412580
0000304575 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 asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Joubert syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412581
0000304576 - asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Joubert syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412582
0000304577 skeletal features: phalangeal cone-shaped epiphysis, brachydactyly; renal disease (end-stage): nephronophthisis (20y); other clinical features:retinal degeneration, liver fibrosis, obesity Mainzer-Saldino syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412583
0000304578 - Mainzer-Saldino syndrome dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Familial, autosomal recessive - - - - - LOVD 00412584
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.