ZFIN Human Disease: Troyer syndrome

OBO ID: DOID:0050886

Term Name:	Troyer syndrome		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20 SPG20
Definition:	A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (6)
References:	GARD:5372 ICD10CM:G11.4 OMIM:275900 ORDO:101000
Ontology:	Human Disease ( DOID:0050886 )

Relationships

is a type of:	autosomal recessive disease hereditary spastic paraplegia autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPART	spartb sparta	Troyer syndrome	275900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None