Congenital disorder of glycosylation type 1e

disorder

SNOMED 725078006CUI C1837396

Overview

Congenital disorder of glycosylation type 1e 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.

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypotonia, early

Very frequent (80-99%)HP:0008947

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Postnatal microcephaly

Very frequent (80-99%)HP:0005484

Seizures

Very frequent (80-99%)HP:0001250

Abnormality of the dentate nucleus

Frequent (30-79%)HP:0100321

Antithrombin III deficiency

Frequent (30-79%)HP:0001976

Delayed myelination

Frequent (30-79%)HP:0012448

Elevated liver enzymes

Frequent (30-79%)HP:0002910

Increased distance between eyes

Frequent (30-79%)HP:0000316

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Poor weight gain

Frequent (30-79%)HP:0001508

Protein C deficiency

Frequent (30-79%)HP:0005543

Reduced protein S activity

Frequent (30-79%)HP:0004855

Abnormal visual fixation

Occasional (5-29%)HP:0025404

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Camptodactyly

Occasional (5-29%)HP:0012385

Carp-shaped mouth

Occasional (5-29%)HP:0010806

Congenital muscular dystrophy

Occasional (5-29%)HP:0003560

Cortical blindness

Occasional (5-29%)HP:0100704

Diarrhea

Occasional (5-29%)HP:0002014

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Early onset petit mal seizures

Occasional (5-29%)HP:0011152

Encephalopathy

Occasional (5-29%)HP:0001298

Enlarged liver

Occasional (5-29%)HP:0002240

Esotropia

Occasional (5-29%)HP:0000565

Fatty liver

Occasional (5-29%)HP:0001397

Flat nasal bridge

Occasional (5-29%)HP:0005280

Flexion contractures of knees

Occasional (5-29%)HP:0006380

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 725078006
UMLS CUI: C1837396
Fully Specified Name: Congenital disorder of glycosylation type 1e (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.