ZFIN Human Disease: cerebral creatine deficiency syndrome

OBO ID: DOID:0050798

Term Name:	cerebral creatine deficiency syndrome		Search Ontology:
Synonyms:
Definition:	An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (2)
References:	OMIM:PS300352
Ontology:	Human Disease ( DOID:0050798 )

Relationships

is a type of:	amino acid metabolic disorder amino acid metabolic disorder Show first 5 Terms
has subtype:	AGAT deficiency cerebral creatine deficiency syndrome 1 guanidinoacetate methyltransferase deficiency AGAT deficiency cerebral creatine deficiency syndrome 1 guanidinoacetate methyltransferase deficiency Show first 5 Terms

OTHER cerebral creatine deficiency syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None