Phenotype #0000078537

Individual ID	00100317
Associated disease	COMMAD
Phenotype details	see paper; ..., colobomatous microphthalmia, microcornea with pannus, dense bilateral cataracts, translucent irides, profound congenital sensorineural hearing loss, lack visible pigment hair/skin/eyes, microphthalmia on prenatal ultrasound, macrocephaly
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