neurodevelopmental disorder with seizures and gingival overgrowth

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 chrom

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.

Signs and symptoms

• Seizure
• Mild intellectual disability
• Jaw swelling
• Gingival overgrowth
• Flexion contracture of toe
• Developmental regression
• Gait ataxia
• Camptodactyly of finger
• Slurred speech
• Coarse facial features