Disease #02641 (SCAN1 (ataxia, spinocerebellar, autosomal recessive with axonal neuropathy (SCAN-1)), OMIM:607250)

Official abbreviation	SCAN1
Name	ataxia, spinocerebellar, autosomal recessive with axonal neuropathy (SCAN-1)
OMIM ID	607250
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TDP1
Associated tissues	-
Disease features	onset childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657),no dystonia (-HP:0001332)
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-09-10 21:03:33 +02:00 (CEST)

Global Variome shared LOVD