Carbohydrate deficient glycoprotein syndrome type 2k

disorder

SNOMED 732252005CUI C3553571

Overview

Carbohydrate deficient glycoprotein syndrome type 2k 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.

Diaphyseal dysplasia

Always present (100%)HP:0100252

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Enlarged liver

Always present (100%)HP:0002240

Hypotrophic malar bone

Always present (100%)HP:0000272

Joint ligamentous laxity

Always present (100%)HP:0001382

Metaphyseal dysplasia

Always present (100%)HP:0100255

Osteoporosis

Always present (100%)HP:0000939

Peripheral hypotonia

Always present (100%)HP:0001252

Postnatal failure to thrive

Always present (100%)HP:0001508

Postnatal microcephaly

Always present (100%)HP:0005484

Very poor growth

Always present (100%)HP:0001510

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Low platelet count

Frequent (30-79%)HP:0001873

Amelogenesis imperfecta

Occasional (5-29%)HP:0000705

Decreased projection of midface

Occasional (5-29%)HP:0011800

Hemolytic-uremic syndrome

Occasional (5-29%)HP:0005575

Seizures

Occasional (5-29%)HP:0001250

Unexplained fevers

Occasional (5-29%)HP:0001955

Abnormal development of end part of bone

HP:0002656

Abnormality of the cerebral white matter

HP:0002500

Decreased body height

HP:0004322

Kyphoscoliosis

HP:0002751

Low-set ears

HP:0000369

Muscle weakness

HP:0001324

Posteriorly angulated ears

HP:0000358

Psychomotor development deficiency

HP:0001263

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 732252005
UMLS CUI: C3553571
Fully Specified Name: Carbohydrate deficient glycoprotein syndrome type 2k (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.