Global Variome shared LOVD

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Phenotype #0000357497 Individual ID 00472700 Associated disease MSS Phenotype details see paper; ..., congenital hypotonia; delayed motor development, 1y6m-head control, 2y-sit, 15y-walk supported; no intellectual disability; 20m-MRI cranial diffuse cerebellar vermian atrophic volume loss, cortical-dominant degenerative T2 FLAIR hyperintensity changes infratentorial level; strabismus, cataract; microcephaly Diagnosis/Initial congenital hypotonia Inheritance Familial, autosomal recessive Diagnosis/Definite MSS Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-25 19:59:56 +01:00 (CET) Date last edited N/A

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