Phenotype #0000346380

Individual ID 00457930
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; purposeful absent use of hands; no hearing loss; eye contact; no epilepsy; no microcephaly (SD-1.4); no hypotrophy; choreo-athetosis; 2y-one cafĂ©-au-lait spot
Inheritance Familial, autosomal recessive
Age/Examination 2y8m (2 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 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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