Phenotype #0000021577

Individual ID	00025464
Associated disease	HPMRS4;GPIBD10
Phenotype details	She had severe psychomotor delay. Myoclonic seizures started in her second year of life. Physical examination of this 2-year-old female showed normal growth parameters and OFC but axial muscular hypotonia, uncoordinated movements, and facial dysmorphism including hypertelorism, short nose with broad bridge and tip, Tented upper-lip vermilion and Large, fleshy ear lobes. ALP activity was elevated.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2014-12-08 19:00:53 +01:00 (CET)
Date last edited	2014-12-08 19:09:32 +01:00 (CET)

Global Variome shared LOVD