Phenotype #0000124553

Individual ID	00152210
Associated disease	MEB
Phenotype details	2m life-threatening cyanosis in context gastrooesophageal reflux, hypotonia, motor development delayed, scoliosis, MR with absent verbal ability, autistic signs, shifty eyes, severe myopia; 4y muscle biopsy discrete fiber size variability, slightly increased connective endomysial tissue, EMG myopathic changes, normal nerve conduction velocities, ERG moderate macular activity, MRI brain atrophy brain stem, abnormality periventricular white matter; CPK 800-1000 UI/l; intellectual disability (HP:0001249); 5y-able to walk
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	00y00m00d
Phenotype/Onset	swallowing difficulties
Protein	WB no DAG1
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-04-23 15:06:48 +02:00 (CEST)
Date last edited	2018-02-03 21:24:33 +01:00 (CET)

Global Variome shared LOVD