Global Variome shared LOVD

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

Phenotype #0000094162 Individual ID 00119095 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 3y-died (epilepsy); onset 4m-muscular hypotonia, strabismus; unremarkable neonatal course; severe intellectual disability, developmental delay; decreased muscle tone; no movement disorder; epilepsy; cardiomyopathy, retinitis pigmentosa; lactic acidosis (HP:0003128), encephalopathy (HP:0001298) Inheritance Unknown Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Saskia Wortmann Database submission license No license selected Created by Saskia Wortmann Date created 2017-09-07 12:08:44 +02:00 (CEST) Date last edited 2021-02-01 09:50:50 +01:00 (CET)

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