orofaciodigital syndrome XIV

Term ID

DOID:0060958

Synonyms

Definition

An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/24997988/

References

• GARD:13655
• MIM:615948
• ORDO:434179

Ontology

Human Disease   ( DOID:0060958 )