early-onset progressive encephalopathy with brain atrophy and spasticity

Term ID

DOID:0070745

Synonyms

• PEBAS

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. https://pubmed.ncbi.nlm.nih.gov/28777934/

References

• ICD10CM:Q07.8
• MIM:617669
• ORDO:500144
• SNOMEDCT_US_2026_03_01:1169356004
• UMLS_CUI:C5567229

Ontology

Human Disease   ( DOID:0070745 )