Phenotype #0000346374

Individual ID 00457924
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; no optic atrophy/pale papillae; 16m-myoclonic seizures; microcephaly (SD-2.9); hypotrophy; choreo-athetosis, stereotypies; 5y-skin hyper/hypopigmented macules
Inheritance Familial, autosomal recessive
Age/Examination 7y2m (7 years, 2 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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