ZFIN Human Disease: MASA syndrome

OBO ID: DOID:0060246

Term Name:	MASA syndrome		Search Ontology:
Synonyms:	CRASH syndrome Gareis-Mason syndrome hereditary spastic paraplegia 1 L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1
Definition:	A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (3)
References:	GARD:6986 MESH:C536029 NCI:C129930 OMIM:303350 ORDO:2466 SNOMEDCT_US_2023_03_01:716996008 UMLS_CUI:C0795953
Ontology:	Human Disease ( DOID:0060246 )

Relationships

is a type of:	hereditary spastic paraplegia X-linked recessive disease hereditary spastic paraplegia X-linked recessive disease Show first 5 Terms

OTHER MASA syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
L1CAM	l1cama l1camb	MASA syndrome	303350

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None