IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease

disorder

SNOMED 1260450002CUI C5779989

Overview

IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Degeneration of cerebellum

Always present (100%)HP:0001272

Demyelinating peripheral neuropathy

Always present (100%)HP:0007108

Fatty liver

Always present (100%)HP:0001397

Growth delay as children

Always present (100%)HP:0008897

Liver fibrosis

Always present (100%)HP:0001395

Myopathic facial appearance

Always present (100%)HP:0002058

Small midface

Always present (100%)HP:0011800

Ataxia

Very frequent (80-99%)HP:0001251

Distal muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Exocrine pancreatic insufficiency

Very frequent (80-99%)HP:0001738

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Moderate mental retardation

Very frequent (80-99%)HP:0002342

No development of motor milestones

Very frequent (80-99%)HP:0001270

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Abnormal hands

Frequent (30-79%)HP:0001155

Abnormal morphology of the midface

Frequent (30-79%)HP:0000309

Abnormality of the feet

Frequent (30-79%)HP:0001760

Achilles tendon contracture

Frequent (30-79%)HP:0001771

Attachment of thumb close to wrist

Frequent (30-79%)HP:0009623

Cerebellar hemisphere hypoplasia

Frequent (30-79%)HP:0100307

Congenital hypotonia

Frequent (30-79%)HP:0001319

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Diabetes mellitus

Frequent (30-79%)HP:0000819

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Distal limb muscle weakness due to peripheral neuropathy

Frequent (30-79%)HP:0002460

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Facial muscle weakness of muscles innervated by CN VII

Frequent (30-79%)HP:0010628

Fetal foot inversion

Frequent (30-79%)HP:0001762

Related Conditions

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Pancreatic insufficiency(parent)

Sensorineural hearing loss(parent)

Hereditary ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1260450002
UMLS CUI: C5779989
Fully Specified Name: Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.