Phenotype #0000078540

Individual ID 00100320
Associated disease COMMAD
Phenotype details see paper; ..., born with severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment hair/skin/eyes; relative macrocephaly, short stature, low weight
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