Phenotype #0000356895

Individual ID 00472086
Associated disease KABUK
Diagnosis/Initial Kabuki syndrome
Diagnosis/Definite KABUK1
Phenotype details see paper; ..., long palpebral fissures, short nasal septum, low set ear; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; no cardiovascular anomalies; feeding difficulties; no urogenital anomalies; no short stature
Inheritance Isolated (sporadic)
Age/Examination 3y (3 years)
Age/Diagnosis 18m
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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