Phenotype #0000021997

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00025927
Associated disease	HPMRS1;GPIBD2
Phenotype details	At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 years.
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	2014-12-04 19:36:42 +01:00 (CET)
Date last edited	N/A