Phenotype #0000021998

Individual ID	00025928
Associated disease	HPMRS1;GPIBD2
Phenotype details	Developmental delay was noted by the age of 16 months. Frequent generalized tonic-clonic seizures commenced at age 4 years. She had delayed psychomotor development and hypotonia, hypertelorism, a broad nasal bridge and tented upper lip. Her hands and feet were normal with no evidence of clinodactyly or brachytelephalangy.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau