rapadilino syndrome

Term ID

DOID:0050774

Synonyms

Definition

A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome

References

• GARD:4637
• MESH:C535288
• OMIM:266280
• ORDO:3021
• SNOMEDCT_US_2023_03_01:702413000
• UMLS_CUI:C1849453

Ontology

Human Disease   ( DOID:0050774 )