Phenotype #0000346375

Individual ID 00457925
Associated disease ?
Diagnosis/Initial GM3 synthase deficiency
Diagnosis/Definite SPDRS
Phenotype details see paper; ..., feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; optic atrophy/pale papillae; 14m-myoclonic seizures; no microcephaly (SD-1.7); no hypotrophy; choreo-athetosis, stereotypies; normal pigmentation skin
Inheritance Familial, autosomal recessive
Age/Examination 3y9m (3 years, 9 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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