Phenotype #0000155302

Individual ID	00207524
Associated disease	HPMRS1;GPIBD2
Phenotype details	Myoclonic seizures. Inguinal herna, hydrocele, strabismus. Global DD. Dysmorphic features (prominent forehead, high arched eyebrows and sparse on the outer third, nystagmus, mild telecanthus, uplifted ear lobes, open mouth with intermittent drooling). Pectus excavatum, clinodactyly involving the fifth digits, 4th and 5th toes bilaterally. reducible umbilical hernia, mild hepatomegaly, and ataxic gait. Brain MRI showed symmetrical bilateral patchy signal abnormalities in the periventricular zones in the parietal, occipital and frontal regions, white matter loss, and thin corpus callosum. Elevated ALP (968 U/L). No skin abnormalities. Normal hearing and heart evaluations. Normal Vitamin E and alpha-fetoprotein.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	00y06m (6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 18:30:06 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD