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Disease Ontology Browser
Larsen-like syndrome B3GAT3 type (DOID:0080575)
Alliance: disease page
Synonyms: Larsen-like syndrome, B3GAT3 type; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Alt IDs: OMIM:245600, ORDO:284139
Definition: An autosomal recessive disease 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory