FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodevelopmental disorder with seizures and gingival overgrowth ID (Ontology) DOID:0070651 (Human Disease)
Definition A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles.
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 neurodevelopmental disorder with seizures and gingival overgrowth       1
 for disease ribbon | neurodevelopmental disorder with seizures and gingival overgrowth       1
 model of | neurodevelopmental disorder with seizures and gingival overgrowth       1
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 neurodevelopmental disorder with seizures and gingival overgrowth  1 rec.
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Is a autosomal recessive disease
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MIM:619323