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KINSSHIP syndrome
Summary
- Synonym
-
- AFF3-related mesomelic dysplasia
- KINS
- Steichen-Gersdorf type mesomelic dysplasia
- Definition
- A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0112383
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
