pontocerebellar hypoplasia type 7
ORPHA: 284339
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 7, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAmbiguous genitaliaThick upper lip vermilionHigh palateMicrocephalyEpicanthusMicrognathiaMacrotiaWide nasal bridgeIntellectual disabilityHypotoniaGlobal developmental delayHypertoniaAbnormal cerebral morphologyHypoplasia of the corpus callosumHypoplasia of the brainstemFasciculationsAbnormal cerebral white matter morphologySkeletal muscle atrophyOlivopontocerebellar hypoplasiaFatigable weakness of skeletal musclesMicropenisGonadal dysgenesisAplasia of the uterusUpslanted palpebral fissureNystagmusOptic atrophySeizureSpasticityMyoclonusHyperreflexiaInvoluntary movementsDepressed nasal bridgeClitoral hypertrophyAbnormal scrotal rugationMicrophallusAbsent penis
Classification & Codes
Orphanet Code
ORPHA:284339pontocerebellar hypoplasia type 7
| Orphanet | ORPHA:284339 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO