Version: 8.0.0
Date: Tue Jan 28 2025
rapadilino syndrome
DOID:0050774
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

rapadilino syndrome

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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