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Human Disease

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
Ontology
Human Disease   ( DOID:0050774 )
Relationships
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Genes Involved
Zebrafish Models