bulbospinal muscular atrophy pontocerebellar hypoplasia type 2 https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 NCIT:C124057 UMLS:C2932714 DOID:0112328 progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy MEDGEN:420956 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. SCTID:715463008 MESH:C548070 Orphanet:2524 PCH2 GARD:0010705 icd11.foundation:1158649247 MONDO:0016759 pontocerebellar hypoplasia