Phenotype #0000346582

Global Variome shared LOVD

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

Individual ID	00458137
Associated disease	MCPH
Phenotype details	see paper; ..., primary microcephaly, OFC SD<3; mild-moderate intellectual disability; no dysmorphic features, no ocular malformations, no failure to thrive
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MCPH18
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-03 10:27:33 +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.