Global Variome shared LOVD

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

Phenotype #0000278912 Individual ID 00309649 Associated disease ? Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details no developmental delay; no intellectual disability; no hearing loss; no regression; no seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy; arthrogryposis, myopathy, mitochondrial Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2021-10-08 11:03:02 +02:00 (CEST) Date last edited N/A

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