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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: Q87.8
- OMIM: 616263
- UMLS: C4015728
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2021) - Thyroid
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
- Español (2017) - Orphananesthesia
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM
Genetic Testing
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.