Global Variome shared LOVD

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Phenotype #0000321899 Individual ID 00431298 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAGSSS Phenotype details see paper; ..., intrauterine growth retardation; growth retardation (-5.9SDS); moderate/severe intellectual disability, no expressive speech, spastic movement disorder (gross motor function classification system IV), muscular hypotonia, brain MRI; intermittently mildly affected hepatic synthesis; strabismus, feeding through percutaneous endoscopic gastrostomy, esophagitis, zinc deficiency Inheritance Familial, autosomal recessive Age/Examination 18y08m (18 years, 8 months) Age/Diagnosis - Age/Onset - 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 2023-02-07 20:47:19 +01:00 (CET) Date last edited 2023-02-07 20:51:04 +01:00 (CET)

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