Orofaciodigital syndrome type 14

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Synonyms: Microcephaly-cerebral malformation-orofaciodigital syndrome | OFD14 | 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Orofaciodigital syndrome type 14?

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