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Metadata
ID	DOID:0070718
PURL	http://purl.obolibrary.org/obo/DOID_0070718 Copy Copied!
Name	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
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/
Xrefs	MIM:621382
SKOS	exactMatch MIM:621382
Subsets	DO_rare_slim
Synonyms	NEDBSPG [EXACT]
Parent Relationships	is_a hereditary spastic paraplegia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance