FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Filippi syndrome ID (Ontology) DOID:0112194 (Human Disease)
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.
Also Known As "Scott craniodigital syndrome with mental retardation" ; "type 1 syndactyly-microcephaly-intellectual disability syndrome"
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Filippi syndrome
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Scott craniodigital syndrome with mental retardation" EXACT
    "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT
Secondary IDs
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GARD:62
MESH:C538152
MIM:272440
ORDO:3255