Term Name: Filippi syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome