Phenotype #0000346386

Individual ID 00457936
Associated disease ?
Diagnosis/Initial GM3 synthase deficiency
Diagnosis/Definite SPDRS
Phenotype details see paper; ..., feeding difficulties; irritability; severe intellectual disability; 2y-sit; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 2y6m-infantile spasms, focal motor seizures; no microcephaly (SD-2); no hypotrophy; truncal hypotonia; skin hyperpigmented spots hands and feet
Inheritance Familial, autosomal recessive
Age/Examination 11y11m (11 years, 11 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 InternationalCreative Commons License
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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