Phenotype #0000346385

Individual ID 00457935
Associated disease ?
Diagnosis/Initial GM3 synthase deficiency
Diagnosis/Definite SPDRS
Phenotype details see paper; ..., no feeding difficulties; irritability; severe intellectual disability; not sitting; not walking; nonverbal;  ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.3); no hypotrophy; choreo-athetosis; normal pigmentation skin
Inheritance Familial, autosomal recessive
Age/Examination 3y6m (3 years, 6 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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