Asparagine-linked glycosylation 1 congenital disorder of glycosylation

disorder

SNOMED 720941007CUI C2931005

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent deep tendon reflexes

Always present (100%)HP:0001284

Decreased activity of gonads

Always present (100%)HP:0000135

Enlarged liver

Always present (100%)HP:0002240

Hypoplastic mandible condyle

Always present (100%)HP:0000347

Increased distance between eyes

Always present (100%)HP:0000316

Joint contracture

Always present (100%)HP:0034392

Large fontanelle

Always present (100%)HP:0000239

Large spleen

Always present (100%)HP:0001744

Multifocal EEG abnormality

Always present (100%)HP:0010841

Nonimmune hydrops fetalis

Always present (100%)HP:0001790

Type I transferrin isoform profile

Always present (100%)HP:0003642

Cognitive delay

Very frequent (80-99%)HP:0001263

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Poor school performance

Very frequent (80-99%)HP:0001249

Seizures

Very frequent (80-99%)HP:0001250

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Eye disease

Frequent (30-79%)HP:0000478

Funny looking face

Frequent (30-79%)HP:0001999

Gastrointestinal disease

Frequent (30-79%)HP:0011024

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Hematological abnormality

Frequent (30-79%)HP:0001871

Hypoalbuminaemia

Frequent (30-79%)HP:0003073

Mental retardation, mild

Frequent (30-79%)HP:0001256

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Scoliosis

Frequent (30-79%)HP:0002650

Skeletal anomalies

Frequent (30-79%)HP:0000924

Squint

Frequent (30-79%)HP:0000486

Cardiac anomaly

Occasional (5-29%)HP:0001627

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 720941007
UMLS CUI: C2931005
Fully Specified Name: Asparagine-linked glycosylation 1 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.