Filippi syndrome

Term ID

DOID:0112194

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. (2)

References

• GARD:62
• MESH:C538152
• MIM:272440
• ORDO:3255

Ontology

Human Disease   ( DOID:0112194 )