Phenotype #0000155303

Individual ID	00207525
Associated disease	HPMRS1;GPIBD2
Phenotype details	Global DD. Tonic-clonic seizures. Strabismus (was surgically corrected). Coarse facial features (high hairlines, hypertelorism, epicanthal folds, horizontal nystagmus, depressed nasal bridge, delayed teeth eruption, everted and partially bifid lower lip, folded ears, and irregular hypopigmented skin margins surrounding the eyes and the nose.) Spastic lower limbs, bilateral brachydactyly, severe clinodactyly of both fifth fingers and toes and dry eczematous skin. High ALP level (454 U/L). No chest deformity or organomegaly.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	00y04m (4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 18:44:30 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD