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Filippi syndrome
Summary
- Synonym
-
- Scott craniodigital syndrome with mental retardation
- type 1 syndactyly-microcephaly-intellectual disability syndrome
- Definition
- A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112194
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
