Phenotype #0000078542

Individual ID 00100319
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata
Inheritance Familial, autosomal dominant
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 19:28:34 +01:00 (CET)
Date last edited 2017-02-10 19:29:42 +01:00 (CET)

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