Term Name: early-onset progressive encephalopathy with brain atrophy and spasticity
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.
Ontology: Human Disease [DOID:0070745]   ( DOID:0070745 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder