Component of oligomeric golgi complex 7 congenital disorder of glycosylation

disorder

SNOMED 717773005CUI C2931010

Overview

Component of oligomeric golgi complex 7 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.

Cerebral atrophy

Always present (100%)HP:0002059

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Generalised decreased muscle tone

Always present (100%)HP:0001290

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Large spleen

Always present (100%)HP:0001744

Low-set ears

Always present (100%)HP:0000369

Narrow forehead

Always present (100%)HP:0000341

Neonatal asphyxia

Always present (100%)HP:0012768

Overlapping fingers

Always present (100%)HP:0010557

Abnormal liver function

Very frequent (80-99%)HP:0002910

Brain degeneration

Very frequent (80-99%)HP:0012444

Feeding difficulties

Very frequent (80-99%)HP:0011968

Growth delay as children

Very frequent (80-99%)HP:0008897

Intermittent fever

Very frequent (80-99%)HP:0001954

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Poor weight gain

Very frequent (80-99%)HP:0001508

Predisposition to infections

Very frequent (80-99%)HP:0002719

Type II transferrin isoform profile

Very frequent (80-99%)HP:0012301

Abnormalities of the fingers

Frequent (30-79%)HP:0001167

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

Cardiac anomaly

Frequent (30-79%)HP:0001627

Chronic heart failure

Frequent (30-79%)HP:0001635

Deformity of face

Frequent (30-79%)HP:0001999

Diarrhea

Frequent (30-79%)HP:0002014

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Enlarged liver

Frequent (30-79%)HP:0002240

Excessive wrinkled skin

Frequent (30-79%)HP:0007392

Hydronephrosis

Frequent (30-79%)HP:0000126

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 717773005
UMLS CUI: C2931010
Fully Specified Name: Component of oligomeric golgi complex 7 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.