Phenotype #0000155167

Individual ID	00207396
Associated disease	HPMRS4;GPIBD10
Phenotype details	Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizures (age at onset: 4 years, treatable), Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), High ALP levels (1103 U/L)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau