neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia Disease Ontology Browser

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neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia (DOID:0070718)
Alliance: disease page
Synonyms: NEDBSPG
Alt IDs: OMIM:621382
Definition: A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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