Phenotype #0000119625

Individual ID	00146830
Associated disease	WWS
Phenotype details	born after elective Caesarean section; severe hydrocephalus macrocephalic, birth weight 3120g, head circumference 43cm (+2SD), anterior fontanel large/bulging with palpable separation cranial sutures; limited spontaneous limb movements, depressed tendon reflexes, no sucking reflex, grasping hands/absent both feet; asymmetric pupils, smaller right eye, pupillary light reflexes bilaterally absent, iris blood vessels dilated, bilateral cataracts; MRI brain abnormalities
Diagnosis/Initial	Walker-Warburg syndrome (WWS)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<0d
Phenotype/Onset	reduced fetal movements
Protein	IHC DAG1 reduced, LAMA2/SGCs normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-05-20 13:02:09 +02:00 (CEST)
Date last edited	2012-05-20 13:03:09 +02:00 (CEST)

Global Variome shared LOVD