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. [ Orphanet:2524 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C2932714 (Orphanet:2524)
  • GARD:0010705 (MONDO:equivalentTo)
  • NCIT:C124057 (MONDO:equivalentTo)
  • MESH:C548070 (Orphanet:2524)
  • SCTID:715463008 (MONDO:equivalentTo)
  • Orphanet:2524 (MONDO:equivalentTo)
  • ICD10:Q04.3 (Orphanet:2524)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
PCH2 [ Orphanet:2524 ]

definition

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.

exactMatch

http://identifiers.org/mesh/C548070

http://purl.obolibrary.org/obo/NCIT_C124057

http://identifiers.org/snomedct/715463008

http://linkedlifedata.com/resource/umls/id/C2932714

http://www.orpha.net/ORDO/Orphanet_2524

has related synonym

progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy

id

MONDO:0016759

seeAlso

https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2