Global Variome shared LOVD

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

Phenotype #0000094161 Individual ID 00119094 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 3y6m-died (respiratory failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128), low blood glucose; severe intellectual disability, developmental delay; increased muscle tone; dystonia; impaired suckling/swallowing; epilepsy; MRI-brain white matter defects with absent myelinisation; encephalopathy (HP:0001298) Inheritance Unknown Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset <00y00m00d 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 12:04:35 +02:00 (CEST) Date last edited 2021-02-01 10:07:28 +01:00 (CET)

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