has material basis in germline mutation in C2CD3 syndromic intellectual disability orofaciodigital syndrome type 14 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/orofaciodigital_syndrome_xiv Orphanet:434179 C2CD3 orofaciodigital syndrome GARD:0013655 UMLS:C4706604 OFD14 orofaciodigital syndrome XIV SCTID:763837007 orofaciodigital syndrome type 14 MONDO:0014413 microcephaly-cerebral malformation-orofaciodigital syndrome MEDGEN:1635470 OMIM:615948 DOID:0060958 orofaciodigital syndrome caused by mutation in C2CD3 oral-facial-digital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, 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). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. multiple congenital anomalies/dysmorphic syndrome-intellectual disability orofaciodigital syndrome