Phenotype #0000356893

Individual ID 00472084
Associated disease KABUK
Diagnosis/Initial Kabuki syndrome
Diagnosis/Definite KABUK1
Phenotype details see paper; ..., long palpebral fissures with lateral eversion of eyelid; normal eye; thin upper lip vermilion; sacral dimple with hair tuft; 5th finger clinodactyly, tapering fingers, abnormal palmar creases, fleshy finger pads; developmental delay; no cardiovascular anomalies; feeding difficulties; dysplastic left kidney, renal cysts in right; short stature: 5th percentile in height
Inheritance Isolated (sporadic)
Age/Examination 13m
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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