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.