Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation

disorder

SNOMED 733083006CUI C3281084

Overview

Dolichyl-diphosphooligosaccharide-protein glycosyltransferase 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.

Chronic constipation

Always present (100%)HP:0012450

Cognitive delay

Always present (100%)HP:0001263

Delayed ability to walk

Always present (100%)HP:0031936

Liver dysfunction

Always present (100%)HP:0001410

Peripheral hypotonia

Always present (100%)HP:0001252

Squint

Always present (100%)HP:0000486

Abnormal liver function

Very frequent (80-99%)HP:0002910

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of the coagulation cascade

Very frequent (80-99%)HP:0003256

CNS hypomyelination

Very frequent (80-99%)HP:0003429

Decreased body height

Very frequent (80-99%)HP:0004322

Dyschezia

Very frequent (80-99%)HP:0002019

Early bone maturation

Very frequent (80-99%)HP:0005616

Esotropia

Very frequent (80-99%)HP:0000565

Fatty liver

Very frequent (80-99%)HP:0001397

Gastroesophageal reflux disease

Very frequent (80-99%)HP:0002020

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Oromotor apraxia

Very frequent (80-99%)HP:0007301

Osteopenia

Very frequent (80-99%)HP:0000938

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Recurrent ear infections

Very frequent (80-99%)HP:0410018

Seizures

Very frequent (80-99%)HP:0001250

Tremor

Very frequent (80-99%)HP:0001337

Type I transferrin isoform profile

Very frequent (80-99%)HP:0003642

Inability to make and keep healthy fat tissue

Occasional (5-29%)HP:0009125

Xerosis

Occasional (5-29%)HP:0000958

Nephrotic range proteinuria

Very rare (1-4%)HP:0012593

Primary hypothyroidism

Very rare (1-4%)HP:0000832

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 733083006
UMLS CUI: C3281084
Fully Specified Name: Congenital disorder of glycosylation type 1r (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.