Phenotype #0000094164

Individual ID	00119097
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	onset 18m-developmental delay; unremarkable neonatal course; mild/moderate intellectual disability, severe developmental delay; increased muscle tone; ataxia; no impaired suckling/swallowing; no epilepsy; mild nystagmus, optic atrophy, no visual impairment; MRI-brain 1y6m-cerebral atrophy, 4y-cerebellar atrophy; max. serum lactate 2.9 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298)
Inheritance	Unknown
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	00y18m
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 12:12:37 +02:00 (CEST)
Date last edited	2021-02-01 10:02:35 +01:00 (CET)

Global Variome shared LOVD