Phenotype #0000228794

Individual ID	00301696
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	G1P0 19 yr old mother, pregnancy was uncomplicated. She developed epilepsy at 9 months of age with concomitant developmental delay. She is short (131.5 cm), microcephalic (50 cm). She had significant internal rotation of the hips especially the left. MRI showed small pituitary gland. Parents are first cousins and have two healthy daughters.
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD