Term Name: | Filippi syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112194] ( DOID:0112194 ) |