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Disease Ontology Browser
Filippi syndrome (DOID:0112194)
Alliance: disease page
Synonyms: Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome
Alt IDs: OMIM:272440, MESH:C538152, ORDO:3255
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory