Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000295657 Individual ID 00402906 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no perinatal findings; no dysmorphism; no developmental delay; normal behavior; normal growth; motor neuropathy with secondary myopathic involvement; MRI brain arachnoid cyst of the posterior fossa; cataract; no hearing loss; severe scoliosis, pes cavus, hammer toes; CPKemia Inheritance Familial, autosomal recessive Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

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