Global Variome shared LOVD

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Phenotype #0000346383 Individual ID 00457933 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; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; microcephaly (SD-2.6); hypotrophy; truncal hypotonia, distal choreo-dystonic movements, stereotypies; 6y-skin hyper/hypopigmented macules Inheritance Familial, autosomal recessive Age/Examination 7y (7 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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