Phenotype #0000326572

Global Variome shared LOVD

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

Individual ID	00436391
Associated disease	MRXSLF
Phenotype details	Neurodevelopmental delay, Absent speech, Hydrocephalus, Enlarged cisterna magna, Cerebellar atrophy, Patent foramen ovale, Patent ductus arteriosus, Hearing impairment, Intellectual disability, Autistic behavior, Strabismus, Dandy-Walker malformation
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2023-09-06 15:09:07 +02:00 (CEST)
Date last edited	2023-09-07 15:55:34 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.