Phenotype #0000228793

Individual ID	00301695
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	history of global developmental delay and epilepsy. He was born full term. His birth weight was 3.5 kg. He had multiple admissions in the first year of life for fever, diarrhea, vomiting and seizures. He has global developmental delay. Parents are distantly related. He has one brother and three sisters, all of whom are healthy. He has mild dysmorphic features with prominent forehead and somewhat deep-set eyes. He has no birth marks or hepatosplenomegaly. Pupils, extraocular muscles, facial, and tongue movements are all symmetrical and normal. He has diffuse hypotonia and weakness but moves all his extremities against gravity. He localized to pain upon stimulation throughout. Brain MRI was unremarkable.
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD