Global Variome shared LOVD

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Phenotype #0000346388 Individual ID 00457938 Associated disease ? Diagnosis/Initial GM3 synthase deficiency Diagnosis/Definite SPDRS Phenotype details see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; myoclonic seizures; microcephaly (SD-6.8); hypotrophy; stereotypies, axial hypotonia, dyskinesia; hyperpigmented skin, small maculas hands and feet Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) 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 2024-11-21 14:48:01 +01:00 (CET) Date last edited N/A

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