Phenotype #0000128888

Individual ID	00163758
Associated disease	?
Diagnosis/Initial	severe cerebral degeneration
Diagnosis/Definite	Leigh syndrome
Phenotype details	see paper; ..., 18m-deceased, no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518), no corneal opacification (-HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, no short stature, no hip dislocation, no scoliosis, no spondylo-epimeta-physeal dysplasia, Leigh syndrome features, no West syndrome, neurodevelopment delay, no peripheral neuropathy
Inheritance	Familial, autosomal recessive
Age/Examination	00y18m (18 months)
Age/Diagnosis	-
Age/Onset	00y00m28d
Phenotype/Onset	severe cerebral degeneration
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-04-09 21:00:40 +02:00 (CEST)
Date last edited	2020-04-11 11:51:03 +02:00 (CEST)

Global Variome shared LOVD