pontocerebellar hypoplasia type 1B
ORPHA: 2254
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 1B, sourced from HPO and Orphanet clinical annotations.
HypotoniaGlobal developmental delayHyporeflexiaMotor delayMuscle weaknessDegeneration of anterior horn cellsRespiratory failureSkeletal muscle atrophyAplasia/Hypoplasia of the cerebellumProgressive microcephalyProgressive visual lossNystagmusOptic atrophyFailure to thriveFeeding difficultiesHypoplasia of the ponsStrabismusSeizureSpasticityTongue fasciculationsHyperreflexiaCerebral cortical atrophyCerebellar cystPeripheral axonal neuropathyCongenital laryngeal stridorThin corpus callosumEsotropiaAtaxiaArthrogryposis multiplex congenita
Classification & Codes
Orphanet Code
ORPHA:2254pontocerebellar hypoplasia type 1B
| Orphanet | ORPHA:2254 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO