Orphanet: Infantile multisystem neurologic endocrine pancreatic disease
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Infantile multisystem neurologic-endocrine-pancreatic disease

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.

ORPHA:456312

Classification level: Disorder
  • Synonym(s):
    • IMNEPD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 616263
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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