Phenotype #0000332797

Global Variome shared LOVD

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

Individual ID	00443455
Associated disease	?
Diagnosis/Initial	lissencephaly, megalencephaly
Diagnosis/Definite	MRT34
Phenotype details	see paper, ..., height 143.5 cm (-0.16SD), weight 52.6 kg (+1.45SD), OFC 56.5 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-27 10:25:59 +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.