Global Variome shared LOVD

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

Phenotype #0000352847 Individual ID 00467635 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAMRQ1 Phenotype details see paper; ..., neurological disorders; neuromotor developmental delay, modarete learning disability, delayed psychosocial development, macrocephaly, chronic constipation, strabismus; MRI dilated at 4th ventricles, vermis and bilateral cerebellar hemisphere hypoplasia, pachygyria; no cardiac anomalies Inheritance Familial, autosomal recessive Age/Examination 10y6m (10 years, 6 months) Age/Diagnosis - Age/Onset 12m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-24 22:46:25 +02:00 (CEST) Date last edited N/A

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