ZFIN Human Disease: Larsen-like syndrome B3GAT3 type

OBO ID: DOID:0080575

Term Name:	Larsen-like syndrome B3GAT3 type		Search Ontology:
Synonyms:	Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Definition:	A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (2)
References:	OMIM:245600 ORDO:284139
Ontology:	Human Disease ( DOID:0080575 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
B3GAT3	b3gat3	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	245600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None