Asparagine-linked glycosylation 3 congenital disorder of glycosylation

disorder

SNOMED 720976009CUI C1832736

Overview

Asparagine-linked glycosylation 3 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.

Abnormal circulating enzyme concentration or activity

Always present (100%)HP:0012379

Optic atrophy

Always present (100%)HP:0000648

Type I transferrin isoform profile

Always present (100%)HP:0003642

Abnormal cerebral morphology

Very frequent (80-99%)HP:0002060

Digestive system disease

Very frequent (80-99%)HP:0011024

Feeding difficulties

Very frequent (80-99%)HP:0011968

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Susceptibility to infection

Very frequent (80-99%)HP:0002719

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormal limb bone morphology

Frequent (30-79%)HP:0002813

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the endocrine system

Frequent (30-79%)HP:0000818

Abnormality of the respiratory system

Frequent (30-79%)HP:0002086

Deafness

Frequent (30-79%)HP:0000365

Decreased liver function

Frequent (30-79%)HP:0001410

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dysmelia

Frequent (30-79%)HP:0040064

Dysplastic ears

Frequent (30-79%)HP:0000377

Genitourinary disease

Frequent (30-79%)HP:0000119

Nasal malformation

Frequent (30-79%)HP:0000366

Osteopenia

Frequent (30-79%)HP:0000938

Seizures

Frequent (30-79%)HP:0001250

Brain degeneration

Occasional (5-29%)HP:0012444

Dystonic disease

Occasional (5-29%)HP:0001332

Hematological abnormality

Occasional (5-29%)HP:0001871

Hypertonia

Occasional (5-29%)HP:0001276

Invaginated nipples

Occasional (5-29%)HP:0003186

Neural tube defect

Occasional (5-29%)HP:0045005

Spastic tetraparesis

Occasional (5-29%)HP:0001285

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 720976009
UMLS CUI: C1832736
Fully Specified Name: Asparagine-linked glycosylation 3 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.