Phenotype #0000346387

Individual ID	00457937
Associated disease	?
Diagnosis/Initial	GM3 synthase deficiency
Diagnosis/Definite	SPDRS
Phenotype details	see paper; ..., no feeding difficulties; severe intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 5m-infantile spasms, focal motor seizures; no microcephaly (SD-1.1); no hypotrophy; truncal hypotonia; skin hyperpigmented spots on back
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
Created by	Johan den Dunnen
Date created	2024-11-21 14:48:01 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD