Phenotype #0000356894

Individual ID 00472085
Associated disease KABUK
Diagnosis/Initial Kabuki syndrome
Diagnosis/Definite KABUK1
Phenotype details see paper; ..., arched eyebrows; long eyelashes, blue sclerae; developmentally delayed; heart murmur, ventricular septal defect; imperforate anus, gerd; undescended testes; low weight and height
Inheritance Isolated (sporadic)
Age/Examination 7m
Age/Diagnosis 7m
Age/Onset -
Phenotype/Onset -
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 2026-01-07 11:45:49 +01:00 (CET)
Date last edited N/A

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