Conditions / Genetic
asphyxiating thoracic dystrophy 5
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
Signs and symptoms
- Chronic tubulointerstitial nephritis
- Stage 5 chronic kidney disease
- Metaphyseal widening
- Rhizomelia
- Short foot
- Brachydactyly
- Inguinal hernia
- Renal hypoplasia
- Short stature
- Hepatomegaly
Also known as: ATD5; SRTD5; short-rib thoracic dysplasia 5 with or without polydactyly