ZFIN Human Disease: guanidinoacetate methyltransferase deficiency

OBO ID: DOID:0050799

Term Name:	guanidinoacetate methyltransferase deficiency		Search Ontology:
Synonyms:	Cerebral creatine deficiency syndrome 2 GAMT deficiency
Definition:	A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
References:	GARD:2578 MESH:C537622 OMIM:612736
Ontology:	Human Disease ( DOID:0050799 )

Relationships

is a type of:	cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GAMT	gamt	Cerebral creatine deficiency syndrome 2	612736

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None