Phenotype #0000232721

Individual ID 00306893
Associated disease CAAHD
Inheritance Familial, autosomal recessive
Phenotype details distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord
Diagnosis/Initial severe infantile spinal muscular atrophy
Age/Examination -
Diagnosis/Definite CAAHD
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 2020-07-21 21:49:16 +02:00 (CEST)
Date last edited 2020-07-21 21:52:04 +02:00 (CEST)

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