Phenotype #0000224127

Individual ID	00181201
Associated disease	CAGSSS
Phenotype details	bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, no spine abnormality, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, reduced bone density, no Leigh syndrome, no West syndrome, no intellectual disability, no peripheral neuropathy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CAGSSS
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-11 11:07:16 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD