Version: 8.0.0
Date: Tue Jan 28 2025
orofaciodigital syndrome XIV
DOID:0060958
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

orofaciodigital syndrome XIV

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.
Synonyms
None
Cross References
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