infantile multisystem neurologic-endocrine-pancreatic disease
ORPHA: 456312
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 infantile multisystem neurologic-endocrine-pancreatic disease, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentAtaxiaGlobal developmental delayMotor delayExocrine pancreatic insufficiencyAbnormal facial shapeModerate intellectual disabilityDistal amyotrophyThin upper lip vermilionBrachycephalyAbnormal midface morphologyExotropiaDiabetes mellitusAbnormality of the handDysmetriaNeonatal hypotoniaFailure to thriveMild postnatal growth retardationAbnormal foot morphologyAchilles tendon contractureEEG abnormalityDistal muscle weaknessSecondary microcephalyProximal placement of thumbFacial palsyCerebellar hemisphere hypoplasiaLong fingersShawl scrotumHypertelorismHypothyroidismDelayed pubertyCongenital hip dislocationDecreased fetal movementTalipes equinovalgusAbnormal hallux morphologyGeneralized myoclonic seizureHepatomegalyDecreased motor nerve conduction velocityDecreased sensory nerve conduction velocityHyperechogenic pancreasFoot joint contractureUlnar deviation of the 3rd fingerUlnar deviation of the 2nd fingerJoint contracture of the handHypoxemiaAbnormal liver parenchyma morphologySkeletal muscle fibrosisAplasia/Hypoplasia of the pancreas
Classification & Codes
Orphanet Code
ORPHA:456312infantile multisystem neurologic-endocrine-pancreatic disease
| Orphanet | ORPHA:456312 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO