Phenotype #0000125526

Individual ID	00152564
Associated disease	MEB
Phenotype details	14w ultra sound hydrocephalus, polyhydramnios; 38w-delivered by C-section, head 38 cm, hydrocephalus, hypotonia; 9d ventilator, no ventriculoperitoneal shunt; 3m-corneal clouding, bilateral glaucoma, high myopia, optic nerve hypoplasia, nystagmus; no epilepsy; mild/moderate cognitive and fine motor delays, no regression; moderate/severe gross motor delays with diffuse hypotonia, reflexes normal, HC at 55th percentile, height 5th percentile, weight 2nd percentile; everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 495 U/l; brain MRI abnormal without shunting
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	00y11m (11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-03 15:25:07 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD