Global Variome shared LOVD

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Phenotype #0000346384 Individual ID 00457934 Associated disease ? Diagnosis/Initial GM3 synthase deficiency Diagnosis/Definite SPDRS Phenotype details see paper; ..., no feeding difficulties; irritability; severe intellectual disability; 14m-sit; 3y-clumsy gait; nonverbal;  ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.6); no hypotrophy; choreo-athetosis; normal pigmentation skin Inheritance Familial, autosomal recessive Age/Examination 8y (8 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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