Phenotype #0000224132

Individual ID	00296731
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., no bilateral nystagmus (-HP:0000639), congenital cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy
Inheritance	Familial, autosomal recessive
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	00y07m
Phenotype/Onset	infantile spasms
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-11 12:21:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD