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DO Term : neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia [DOID:0070718] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:621382,
  • NEDBSPG,
  • 621382
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Diseases --> Mouse models

Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents