Phenotype #0000021171

Individual ID	00025057
Associated disease	HPMRS2;GPIBD6
Phenotype details	The patients were born with anal stenosis. Growth development was delayed in elder sister who also showed marked microcephaly. Psychomotor development was present but it was most severe in elder sister. Their common 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. Their fingers showed nail hypoplasia, especially of the second, fourth, and fifth digits, and absent nails of the fifth digits. Their halluces were broad, but the toes showed small nails or aplasia of nails, especially of the fourth and fifths digits.
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 20:35:44 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD