Carbohydrate deficient glycoprotein syndrome type 1m

disorder

SNOMED 718712005CUI C1835849

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.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Cardiomyocyte hypertrophy

Very frequent (80-99%)HP:0031319

Stretched and thinned heart muscle

Very frequent (80-99%)HP:0001644

Type I transferrin isoform profile

Very frequent (80-99%)HP:0003642

Dry skin

Frequent (30-79%)HP:0000958

Elevated liver enzymes

Frequent (30-79%)HP:0002910

Epilepsy

Frequent (30-79%)HP:0001250

Global developmental delay, mild

Frequent (30-79%)HP:0011342

Heart failure

Frequent (30-79%)HP:0001635

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Interstitial cardiac fibrosis

Frequent (30-79%)HP:0031329

Muscular hypotonia

Frequent (30-79%)HP:0001252

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Abnormal heart rate

Occasional (5-29%)HP:0011675

Aspiration

Occasional (5-29%)HP:0002835

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Bradycardia

Occasional (5-29%)HP:0001662

Decreased body height

Occasional (5-29%)HP:0004322

Delayed ability to stand

Occasional (5-29%)HP:0025335

Delayed ability to walk

Occasional (5-29%)HP:0031936

Delayed motor milestones

Occasional (5-29%)HP:0001270

Diarrhea

Occasional (5-29%)HP:0002014

EEG: generalized slow activity

Occasional (5-29%)HP:0010845

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Focal seizures

Occasional (5-29%)HP:0007359

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hair loss

Occasional (5-29%)HP:0001596

Hypoketotic hypoglycemia

Occasional (5-29%)HP:0001985

Hypotonia, early

Occasional (5-29%)HP:0008947

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 718712005
UMLS CUI: C1835849
Fully Specified Name: Carbohydrate deficient glycoprotein syndrome type 1m (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.