FICUS syndrome

Term ID

DOID:0070793

Synonyms

• facial dysmorphism, impaired intellectual development, and cardiac, urogenital, and skeletal anomalies
• FICUS

Definition

An autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities that has_material_basis_in homozygous mutation in the LSM1 gene on chromosome 8p11. (2)

References

• MIM:621193
• UMLS_CUI:C6011251

Ontology

Human Disease   ( DOID:0070793 )