Asparagine-linked glycosylation 9 congenital disorder of glycosylation

disorder

SNOMED 720978005CUI C2931006

Overview

Asparagine-linked glycosylation 9 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.

Antithrombin III deficiency

Always present (100%)HP:0001976

Decreased circulating cholesterol level

Always present (100%)HP:0003146

Delayed CNS myelination

Always present (100%)HP:0002188

Factor XI deficiency

Always present (100%)HP:0001929

Generalised brain degeneration

Always present (100%)HP:0002283

Large spleen

Always present (100%)HP:0001744

Low albumin

Always present (100%)HP:0003073

Type I transferrin isoform profile

Always present (100%)HP:0003642

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Epilepsy

Very frequent (80-99%)HP:0001250

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Cardiac anomaly

Frequent (30-79%)HP:0001627

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Enlarged liver

Frequent (30-79%)HP:0002240

Invaginated nipples

Frequent (30-79%)HP:0003186

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Muscular hypotonia

Frequent (30-79%)HP:0001252

Pericardial effusions

Frequent (30-79%)HP:0001698

Skeletal dysplasia

Frequent (30-79%)HP:0002652

Abnormal bone ossification

Occasional (5-29%)HP:0011849

Abnormal kidney artery

Occasional (5-29%)HP:0008776

Abnormality of the left ventricular outflow tract

Occasional (5-29%)HP:0011103

Ascites

Occasional (5-29%)HP:0001541

Atria septal defect

Occasional (5-29%)HP:0001631

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Broad ischia

Occasional (5-29%)HP:0100865

Bronchial asthma

Occasional (5-29%)HP:0002099

Columella, low insertion

Occasional (5-29%)HP:0010763

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 720978005
UMLS CUI: C2931006
Fully Specified Name: Asparagine-linked glycosylation 9 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.