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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-02-10 18:52:10 +01:00 (CET)
Date last edited 2017-02-10 19:25:00 +01:00 (CET)

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