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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-02-25 19:59:56 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.