neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia

Term ID

DOID:0070718

Synonyms

• NEDBSPG

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. https://pubmed.ncbi.nlm.nih.gov/40856104/

References

• MIM:621382

Ontology

Human Disease   ( DOID:0070718 )