Global Variome shared LOVD

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Phenotype #0000304575 Individual ID 00412581 Associated disease SRTD10 Phenotype details 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 Diagnosis/Initial asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite dysplasia, thoracic, short-rib, type 10 with or without polydactyly (SRTD-10) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-30 20:55:43 +02:00 (CEST) Date last edited N/A

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