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DOID:0112194 - Filippi syndrome
Disease Ontology 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.
Synonyms: Scott craniodigital syndrome with mental retardation, type 1 syndactyly-microcephaly-intellectual disability syndrome,
Xenbase Genes
:
ckap2l
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)