Phenotype #0000086772

Individual ID 00109299
Associated disease UCMD
Phenotype details severe; 0d-hypotonia, hip dysplasia, contractures; respiratory insufficiency; delayed, no sit, no walk
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
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 2014-03-21 22:24:08 +01:00 (CET)
Date last edited 2017-07-28 19:02:38 +02:00 (CEST)

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