Global Variome shared LOVD

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

Phenotype #0000094163 Individual ID 00119096 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details onset 13m-developmental delay, movement disorder; severe intellectual disability, developmental delay; decreased muscle tone, increased muscle tone; dystonia; impaired suckling/swallowing; suspected epilepsy; MRI-brain 13m-hypoxemic‐ischemic basal ganglia lesions; max. serum lactate 2.1 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298) Inheritance Unknown Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset 00y13m 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 12:11:08 +02:00 (CEST) Date last edited 2021-02-01 09:58:57 +01:00 (CET)

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