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Metadata
ID	DOID:0060958
Name	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. https://pubmed.ncbi.nlm.nih.gov/24997988/
Xrefs	GARD:13655 MIM:615948 ORDO:434179
Subsets	DO_rare_slim
Parent Relationships	is_a orofaciodigital syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance