Phenotype #0000155164

Individual ID	00207393
Associated disease	HPMRS4;GPIBD10
Phenotype details	Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (Rathke cleft cyst), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau