Phenotype #0000239243

Individual ID 00315492
Associated disease DA
Phenotype details see paper; onset birth; severe distal lower limb wasting; muscle weakness quadriceps and hamstrings moderately weak, hip strength normal; DTR absent in lower limbs, normal in upper limbs; no joint contractures; ankles fused in neutral position; low amplitude tibial nerve response, ...
Diagnosis/Initial distal arthrogryposis
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-27 09:56:44 +01:00 (CET)
Date last edited N/A

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