Phenotype #0000049871

Individual ID 00063300
Associated disease BCNS
Phenotype details multiple jaw cysts and BCCs, broad nasal root, hypertelorism, frontal bossing, palmoplantar pits, bifid rib, calcification
of the falx cerebri and enlargement of the
cerebral ventricles.
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-03-08 13:18:23 +01:00 (CET)
Date last edited 2017-01-17 07:59:31 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.