Carbohydrate deficient glycoprotein syndrome type 2j

disorder

SNOMED 718751000CUI C4303552

Overview

Carbohydrate deficient glycoprotein syndrome type 2j 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.

respiratory infections, recurrent

Always present (100%)HP:0002205

Abnormal protein N-linked glycosylation

Very frequent (80-99%)HP:0012347

Abnormal protein O-linked glycosylation

Very frequent (80-99%)HP:0012358

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Complex febrile seizures

Frequent (30-79%)HP:0011172

Decreased size of cranium

Frequent (30-79%)HP:0000252

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Elevated serum cholesterol

Frequent (30-79%)HP:0003124

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Feeding difficulties

Frequent (30-79%)HP:0011968

Frontotemporal cerebral atrophy

Frequent (30-79%)HP:0006892

Generalized low muscle tone in neonate

Frequent (30-79%)HP:0008935

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Increased liver function tests

Frequent (30-79%)HP:0002910

Increased reflexes

Frequent (30-79%)HP:0001347

Intermittent diarrhea

Frequent (30-79%)HP:0002254

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Irritability

Frequent (30-79%)HP:0000737

Mental and motor retardation

Frequent (30-79%)HP:0001263

Nonverbal

Frequent (30-79%)HP:0001344

Poor growth

Frequent (30-79%)HP:0001510

Recurrent URI

Frequent (30-79%)HP:0002788

Sloping forehead

Frequent (30-79%)HP:0000340

Thick hair

Frequent (30-79%)HP:0100874

Thrombocytopenia

Frequent (30-79%)HP:0001873

Truncal hypotonia

Frequent (30-79%)HP:0008936

Type II transferrin isoform profile

Frequent (30-79%)HP:0012301

Chronic diarrhoea

Occasional (5-29%)HP:0002028

Cirrhosis

Occasional (5-29%)HP:0001394

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 718751000
UMLS CUI: C4303552
Fully Specified Name: Component of oligomeric golgi complex 4 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.