Global Variome shared LOVD

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Phenotype #0000292411 Individual ID 00399294 Associated disease GAMOS1 Phenotype details Global developmental delay, Profound global developmental delay, Short stature, Microcephaly, Spasticity, Nystagmus, Horizontal pendular nystagmus, Cerebellar atrophy, Abnormality of the basal ganglia, Abnormality of extrapyramidal motor function Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y (3 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 2022-01-19 11:03:50 +01:00 (CET) Date last edited 2022-01-19 22:20:15 +01:00 (CET)

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