Phenotype #0000144104

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00183365
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; intellectual disability, congenital heart defects, characteristic facial dysmorphism, ...
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Joshi Stephen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2018-10-24 21:26:43 +02:00 (CEST)
Date last edited	2018-12-08 10:51:47 +01:00 (CET)

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