ZFIN Human Disease: hereditary spastic paraplegia 86

OBO ID: DOID:0112342

Term Name:	hereditary spastic paraplegia 86		Search Ontology:
Synonyms:	spastic paraplegia 86 autosomal recessive SPG86
Definition:	A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (2)
References:	OMIM:619735
Ontology:	Human Disease ( DOID:0112342 )

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 86 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABHD16A	abhd16a	Spastic paraplegia 86, autosomal recessive	619735

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None