Phenotype #0000356887

Individual ID 00472078
Associated disease KABUK
Diagnosis/Initial Kabuki syndrome
Diagnosis/Definite KABUK2
Phenotype details see paper; ..., depressed nasal bridge; prominent eyes; small jaw; left ddh with pavlik harness; normal hands; sacral dimple; pda and small pfo with mild concentric lvh; feeding difficulties, cows milk protein intolerance; no urogenital anomalies; premature thelarche
Inheritance Isolated (sporadic)
Age/Examination 18m
Age/Diagnosis 11m
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.