Phenotype #0000304565

Individual ID 00412571
Associated disease SRTD10
Phenotype details 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
Diagnosis/Initial asphyxiating thoracic dystrophy, 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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-30 20:55:43 +02:00 (CEST)
Date last edited N/A

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