Phenotype #0000356888

Individual ID 00472079
Associated disease KABUK
Diagnosis/Initial Kabuki syndrome
Diagnosis/Definite KABUK2
Phenotype details see paper; ..., long palpebral fissures, eversion of lateral third of lower eyelid, arched/sparse eyebrows, depressed/flat nasal tip, large/dysmorphic ears; normal eye; normal mouth; hip dysplasia; fetal fingertip pads; neonatal hypotonia; no cardiovascular anomalies; feeding difficulties and gastroesophageal reflux; no urogenital anomalies; short stature
Inheritance Isolated (sporadic)
Age/Examination 14m
Age/Diagnosis 6m
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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