Phenotype #0000021575

Individual ID	00025462
Associated disease	HPMRS4;GPIBD10
Phenotype details	All three children presented profound developmental delay, severe learning disability, no speech, psychomotor delay, postnatal microcephaly, and high levels of serum ALP. 2 over three had generalized tonic-clonic seizures. All had involuntary midline hand movements, and bruxism. Facial features included apparent hypertelorism, Upslanting palpebral fissures, Broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion, Large, fleshy ear lobes, cleft lip in 2 over 3,
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	2014-12-08 17:42:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD