Phenotype #0000049930

Individual ID 00063359
Associated disease BCNS
Phenotype details jaw cysts, palmar pits, calcified falx cerebri, bridging of the sella turcica, large naevi on his back and spina bifida occulta of the cervical and thoracic region.
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
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 2016-12-16 23:28:45 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.