ZFIN Human Disease: Filippi syndrome

OBO ID: DOID:0112194

Term Name:	Filippi syndrome		Search Ontology:
Synonyms:	Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome
Definition:	A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (2)
References:	GARD:62 MESH:C538152 OMIM:272440 ORDO:3255
Ontology:	Human Disease ( DOID:0112194 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Filippi syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CKAP2L	ckap2l	Filippi syndrome	272440

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None