Phenotype #0000078541

Individual ID 00100318
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, premature graying hair (third or fourth decade), no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 19:27:09 +01:00 (CET)
Date last edited 2017-02-10 19:30:07 +01:00 (CET)

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