ZFIN Human Disease: FG syndrome

OBO ID: DOID:14711

Term Name:	FG syndrome		Search Ontology:
Synonyms:	Keller syndrome Opitz-Kaveggia syndrome
Definition:	A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (3)
References:	GARD:2317 MESH:C537923 OMIM:300321 OMIM:300406 OMIM:300422 OMIM:300581 OMIM:305450 ORDO:323 ORDO:93932 SNOMEDCT_US_2023_03_01:49984004 UMLS_CUI:C0220769
Ontology:	Human Disease ( DOID:14711 )

Relationships

is a type of:	syndrome X-linked recessive disease syndrome X-linked recessive disease Show first 5 Terms

OTHER FG syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CASK	caskb caska	Intellectual developmental disorder, with or without nystagmus	300422
		FG syndrome 4	300422
FLNA	flna	?FG syndrome 2	300321
MED12	med12	Opitz-Kaveggia syndrome	305450

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None