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Disease Ontology Browser
early-onset progressive encephalopathy with brain atrophy and spasticity (DOID:0070745)
Alliance: disease page
Synonyms: PEBAS
Alt IDs: OMIM:617669, ICD10CM:Q07.8, ORDO:500144, UMLS_CUI:C5567229
Definition: An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25.

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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Send questions and comments to User Support. 		last database update
06/09/2026
MGI 6.24 		The Jackson Laboratory