FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Larsen-like syndrome B3GAT3 type ID (Ontology) DOID:0080575 (Human Disease)
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.
Also Known As "Larsen-like syndrome, B3GAT3 type" ; "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"
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 Genes
 Larsen-like syndrome B3GAT3 type       3
 for disease ribbon | Larsen-like syndrome B3GAT3 type       3
 model of | Larsen-like syndrome B3GAT3 type       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Larsen-like syndrome B3GAT3 type  3 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Larsen-like syndrome, B3GAT3 type" EXACT
    "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT
Secondary IDs
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MIM:245600
ORDO:284139