Carbohydrate deficient glycoprotein syndrome type 2d

disorder

SNOMED 725587007CUI C2931009

Overview

Carbohydrate deficient glycoprotein syndrome type 2d 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 isoelectric focusing of transferrin

Always present (100%)HP:0003160

Central hypotonia

Always present (100%)HP:0001252

Cognitive delay

Always present (100%)HP:0001263

Decreased muscle mass

Always present (100%)HP:0003199

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Increased size of skull

Always present (100%)HP:0000256

Myopathy

Always present (100%)HP:0003198

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypotonia, early

Very frequent (80-99%)HP:0008947

Type II transferrin isoform profile

Very frequent (80-99%)HP:0012301

Abnormal liver function tests

Frequent (30-79%)HP:0002910

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Antithrombin III deficiency

Frequent (30-79%)HP:0001976

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Decreased LDL cholesterol concentration

Frequent (30-79%)HP:0003563

Distortion of face

Frequent (30-79%)HP:0001999

Low-set ears

Frequent (30-79%)HP:0000369

Near sighted

Frequent (30-79%)HP:0000545

Prolonged activated partial thromboplastin time

Frequent (30-79%)HP:0003645

Protein C deficiency

Frequent (30-79%)HP:0005543

Protein S deficiency

Frequent (30-79%)HP:0004855

Truncal hypotonia

Frequent (30-79%)HP:0008936

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Bleeding tendency

Occasional (5-29%)HP:0001892

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Decreased volume of upper lip

Occasional (5-29%)HP:0000219

Diarrhea

Occasional (5-29%)HP:0002014

Enlarged liver

Occasional (5-29%)HP:0002240

Hypothyroidism

Occasional (5-29%)HP:0000821

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 725587007
UMLS CUI: C2931009
Fully Specified Name: Carbohydrate deficient glycoprotein syndrome type 2d (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.