Phenotype #0000021172

Individual ID	00025058
Associated disease	HPMRS2;GPIBD6
Phenotype details	She was born with anal atresia and perineal fistula. Additional malformations included an atrial septal defect, peripheral pulmonary stenosis, left coronal synostosis resulting in plagiocephaly, and an enlarged supratentorial ventricular system. Growth development was delayed. Psychomotor development was severely retarded. She developed tonic-clonic seizures at the age of 21 months and died at the age of 22 months as a result of a convulsive crisis. Facial signs included wide-set eyes that appeared large because of long palpebral fissures, a short nose with a broad nasal bridge and nasal tip, and a tented mouth.
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
Date created	2014-12-03 21:11:05 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD