Phenotype #0000051187

Individual ID	00065050
Associated disease	CCTRCT
Phenotype details	R: lamellar cataract; L: minimal changes; vitreous abnormality, optic nerve hypoplasia (worse in R), R divergent squint, R exotropia, very pale fundi, hypermetropia, bilateral abnormal hypoplastic discs, abnormal trafficking of vessels, lens subluxation, phacodonesis; hypotonia, small size, poor weight gain due to feeding problems, developmental delay, communication and comprehension limited (no speech at 6 yrs, uses symbols to communicate), hand flapping, unusual head shape, fine hair with unusual hairline and chaotic patterning, single palmar crease, unusual low columnar nose, down-slanted palpebral fissures, thin upper lip, contact dermatitis, diffuse cerebral and cerebella atrophy, and reduced white matter on MRI
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-05-15 22:17:13 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD