pontocerebellar hypoplasia type 2C
MeSH: C567324ORPHA: 2524
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pontocerebellar hypoplasia type 2C, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaSeizureChoreoathetosisCerebellar vermis hypoplasiaCerebellar hypoplasiaGeneralized myoclonic seizureSleep disturbanceHypoplasia of the ventral ponsSevere global developmental delayFeeding difficultiesImpaired oropharyngeal swallow responseProgressive microcephalySloping foreheadMotor delayGastroesophageal refluxPoor suckApneaParoxysmal dystoniaHypoplasia of the brainstemRecurrent infectionsReduced visual acuityInfantile spasmsOral-pharyngeal dysphagiaSpasticityHypoplasia of the corpus callosumVentriculomegalyAbnormal cortical gyrationBabinski signViral infection-induced rhabdomyolysisLower limb hypertoniaDysplastic corpus callosumBilateral single transverse palmar creasesSimple febrile seizureGastrostomy tube feeding in infancyWidened cerebellar subarachnoid spaceBilateral tonic-clonic seizure with generalized onsetCerebral visual impairmentUpper limb hypertoniaCerebellar cyst
Classification & Codes
MeSH Code
C567324Orphanet Code
ORPHA:2524pontocerebellar hypoplasia type 2C
| MeSH | C567324 |
| Orphanet | ORPHA:2524 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO