ZFIN Human Disease: hereditary spastic paraplegia 82

OBO ID: DOID:0112343

Term Name:	hereditary spastic paraplegia 82		Search Ontology:
Synonyms:	spastic paraplegia 82 autosomal recessive SPG82
Definition:	A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31637422/
References:	OMIM:618770
Ontology:	Human Disease ( DOID:0112343 )

Relationships

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

OTHER hereditary spastic paraplegia 82 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PCYT2	pcyt2	Spastic paraplegia 82, autosomal recessive	618770

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None