Disease #06644 (NEDSOSB (?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies), OMIM:618651)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDSOSB
Name	?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
OMIM ID	618651
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SEC31A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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