Xylosyltransferase 1 congenital disorder of glycosylation

disorder

SNOMED 773418007CUI C4750849

Overview

Xylosyltransferase 1 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.

Breaking out

Frequent (30-79%)HP:0001061

Broad ribs

Frequent (30-79%)HP:0000885

Broad thumbs

Frequent (30-79%)HP:0011304

Curvature of digit

Frequent (30-79%)HP:0030084

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Early bone maturation

Frequent (30-79%)HP:0005616

Enlarged liver

Frequent (30-79%)HP:0002240

Fallen arches

Frequent (30-79%)HP:0001763

Growth failure

Frequent (30-79%)HP:0001510

Hypoplastic femoral neck

Frequent (30-79%)HP:0100864

Increased length of philtrum

Frequent (30-79%)HP:0000343

Joint dislocation

Frequent (30-79%)HP:0001373

Joint instability

Frequent (30-79%)HP:0001382

Moderate mental retardation

Frequent (30-79%)HP:0002342

Moon face

Frequent (30-79%)HP:0500011

Prominent lips

Frequent (30-79%)HP:0012471

Short clavicles

Frequent (30-79%)HP:0000894

shortened long tubular bones

Frequent (30-79%)HP:0003026

Soft, doughy skin

Frequent (30-79%)HP:0001027

Splayed metaphyses

Frequent (30-79%)HP:0003015

Unibrow

Frequent (30-79%)HP:0000664

Valgus hip

Frequent (30-79%)HP:0002673

Cleft of palate

Occasional (5-29%)HP:0000175

Hirsutism

Occasional (5-29%)HP:0001007

Near sighted

Occasional (5-29%)HP:0000545

Prominent globes

Occasional (5-29%)HP:0000520

Relatively large head

Occasional (5-29%)HP:0004482

Truncal obesity

Occasional (5-29%)HP:0001956

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773418007
UMLS CUI: C4750849
Fully Specified Name: Xylosyltransferase 1 congenital disorder of glycosylation (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.