Phenotype #0000015249

Individual ID	00016847
Associated disease	MCPH1
Phenotype details	born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures. 1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs).
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	01y03m (1 year, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Marianne Vos (LOVD-team)
Database submission license	No license selected
Created by	Marianne Vos (LOVD-team)
Date created	2014-06-01 21:34:35 +02:00 (CEST)
Date last edited	2016-06-18 22:06:21 +02:00 (CEST)

Global Variome shared LOVD