orofaciodigital syndrome type 14
Findings
No curated finding names orofaciodigital syndrome type 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014413), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad halluxHPOHP:0010055
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- 2 of 2 reported patients
- Microretrognathia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- C2CD3HGNC:24564
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: orofaciodigital syndrome type 14
- Also called
- C2CD3 orofaciodigital syndromemicrocephaly-cerebral malformation-orofaciodigital syndromeOFD14oral-facial-digital syndrome type 14orofaciodigital syndrome caused by mutation in C2CD3