Phenotype #0000125511

Individual ID	00152549
Associated disease	MEB
Phenotype details	CK 700 IU/l, optic disc paleness; brain MRI no ventriculomegaly (-HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); mild intellectual disability (HP:0001256)
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	mild developmental delay, paleness optic nerve
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-03 12:34:40 +01:00 (CET)
Date last edited	2018-02-03 12:48:19 +01:00 (CET)

Global Variome shared LOVD