Phenotype #0000124496

Individual ID	00152153
Associated disease	MEB
Phenotype details	20w ultra sound abnormal hydrocephalus; 42w-delivered by C-section, head 37 cm, hypotonia; 5dhead 38cm, bradycardia, ventriculoperitoneal shunt placed; 4w-corneal clouding, bilateral glaucoma, high myopia, staphylomas, optic nerve hypoplasia, retinal degeneration, cortical cataracts, nystagmus; 5m-epilepsy; complex partial with secondary generalized tonic-clonic and atypical absence seizures, status epilepticus 2x, ECG abnormal-slowing, left focal and spike waves; 6y-weaned from antiepileptic medication; severe to profound cognitive delays, mental retardation, averbal, no regression; severe/profound gross and fine motor delays with diffuse hypotonia, reflexes normal, HC at 10th percentile, height and weight 2nd percentile, low hairline, everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 2327 IU/l; CT/MRI brain abnormal with ventriculoperitoneal shunt
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-08-13 23:15:12 +02:00 (CEST)
Date last edited	2018-02-03 15:14:41 +01:00 (CET)

Global Variome shared LOVD