Phenotype #0000207388

Individual ID 00269560
Associated disease KBGS
Phenotype details macrodontia; prominent forehead, brachycephaly, triangular face, synophrys, long palpebral fissures, hypertelorism, anteverted nostrils, posteriorly rotated ears, long philtrum, short and webbed neck; short hands with clinodactyly of the 5th fingers; no short stature; history of developmental delay, moderate intellectual disability; no costovertebral anomalies; cryptorchidism
Diagnosis/Initial KBG syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2019-11-29 14:13:05 +01:00 (CET)
Date last edited 2019-11-29 14:28:42 +01:00 (CET)

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.