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)

Global Variome shared LOVD