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Metadata
ID	DOID:0070651
Name	neurodevelopmental disorder with seizures and gingival overgrowth
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. https://www.omim.org/entry/619323, https://pubmed.ncbi.nlm.nih.gov/32623794/, https://pmc.ncbi.nlm.nih.gov/articles/PMC11061173/
Xrefs	MIM:619323
SKOS	exactMatch MIM:619323
Subsets	DO_rare_slim
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance