Global Variome shared LOVD

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

Phenotype #0000358560 Individual ID 00473765 Associated disease ? Diagnosis/Initial hypotonia, intellectual disability Diagnosis/Definite - Phenotype details Mental retardation; Hypotonia; Developmental delay, motor & speech; Seizures; Elevated level of SGOT & SGPT; Head Circumference: 47 Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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