Orphanet: Alpha mannosidosis, infantile form

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Alpha-mannosidosis, infantile form

ORPHA:309282

Classification level: Subtype of disorder

Synonym(s):
- Lysosomal alpha-D-mannosidase deficiency, infantile form
Prevalence: -
Inheritance: -
Age of onset: Infancy
ICD-10: E77.1
ICD-11: 5C56.21
OMIM: 248500
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Summary

This disease is described under Alpha-mannosidosis

Detailed information

General public

Article for general public
Svenska (2021) - Socialstyrelsen

Guidelines

Anesthesia guidelines
Português (2020) - Orphananesthesia

Disease review articles

Review article
English (2008) - Orphanet J Rare Dis

Genetic Testing

Guidance for genetic testing
English (2011) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

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