Phenotype #0000015247

Individual ID	00016845
Associated disease	MCPH1
Phenotype details	Seizure onset first day of life (frequent, recurring, longlasting), Profound delays, no constipation, can bubble, nystagmus, nutrition by Gtube. High muscle tone with brisk reflexes. Less of sloping forehead than brother, has bitemporal narrowing, epicanthal folds, hyptelorism, low set and posteriorly rotated ears, broad nasal bridge, high palate. Unremarkable skin exam. Microcephaly -5.8SD at 3 months; -7.8SD at 7 months. 2y:period of illness during which he was reported to have episodes characterized by sudden onset of constant kicking and thrashing, dehydration, pneumonia, and rhabdomyolysis with a peak creatine kinase level of >7,000 u/l, lasting 2m; 3y: similar period lasting 8m.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	03y (3 years)
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	2014-05-31 22:13:23 +02:00 (CEST)
Date last edited	2016-06-18 21:52:42 +02:00 (CEST)

Global Variome shared LOVD