Phenotype #0000304572

Individual ID 00412578
Associated disease SRTD10
Phenotype details 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
Diagnosis/Initial asphyxiating thoracic dystrophy
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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