Global Variome shared LOVD

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

Phenotype #0000326572 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 Creative Commons Attribution 4.0 International 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)

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