FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term orofaciodigital syndrome XIV ID (Ontology) DOID:0060958 (Human Disease)
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.
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 orofaciodigital syndrome XIV       1
 for disease ribbon | orofaciodigital syndrome XIV       1
 model of | orofaciodigital syndrome XIV       1
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome XIV  1 rec.
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Is a autosomal recessive disease
orofaciodigital syndrome
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GARD:13655
MIM:615948
ORDO:434179