Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation

disorder

SNOMED 725028009CUI C1853736

Overview

Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation 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.

Demyelinating peripheral neuropathy

Always present (100%)HP:0007108

EEG with burst suppression

Always present (100%)HP:0010851

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Generalised decreased muscle tone

Always present (100%)HP:0001290

Hypoplastic female external genitalia

Always present (100%)HP:0012815

Reduced tissue mannosyl-oligosaccharide glucosidase activity

Always present (100%)HP:6000576

Thumb clasp

Always present (100%)HP:0001188

Decreased circulating immunoglobulin concentration

Frequent (30-79%)HP:0004313

Decreased circulating total IgM

Frequent (30-79%)HP:0002850

Distortion of face

Frequent (30-79%)HP:0001999

Hirsutism

Frequent (30-79%)HP:0001007

Hypogenitalism

Frequent (30-79%)HP:0003241

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased length of eyelashes

Frequent (30-79%)HP:0000527

Increased nasal width

Frequent (30-79%)HP:0000445

Low levels of immunoglobulin A

Frequent (30-79%)HP:0002720

Retrognathia

Frequent (30-79%)HP:0000278

Seizures

Frequent (30-79%)HP:0001250

Short palpebral fissure

Frequent (30-79%)HP:0012745

Abnormal visual evoked responses

Occasional (5-29%)HP:0000649

Alveolar hypoventilation

Occasional (5-29%)HP:0002791

Apnea

Occasional (5-29%)HP:0002104

Atria septal defect

Occasional (5-29%)HP:0001631

Bone fracture

Occasional (5-29%)HP:0020110

Chronic constipation

Occasional (5-29%)HP:0012450

Decreased serum IgG

Occasional (5-29%)HP:0004315

Dystonic movements

Occasional (5-29%)HP:0001332

Enlarged liver

Occasional (5-29%)HP:0002240

Excess fluid in lungs

Occasional (5-29%)HP:0100598

Generalised oedema

Occasional (5-29%)HP:0007430

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 725028009
UMLS CUI: C1853736
Fully Specified Name: Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (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.