RFT1-CDG (congenital disorder of glycosylation)

disorder

SNOMED 733084000CUI C2677590

Overview

RFT1-CDG (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.

Central hypotonia

Always present (100%)HP:0001252

Decreased visual acuity

Always present (100%)HP:0007663

Epilepsy

Always present (100%)HP:0001250

Involuntary jerking movements

Always present (100%)HP:0001336

Mental retardation, severe

Always present (100%)HP:0010864

Pes valgus

Always present (100%)HP:0008081

Psychomotor development deficiency

Always present (100%)HP:0001263

Sensorineural deafness

Always present (100%)HP:0000407

Thumb-in-palm pattern

Always present (100%)HP:0001181

Type I transferrin isoform profile

Always present (100%)HP:0003642

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Deafness

Very frequent (80-99%)HP:0000365

Abnormal thrombosis

Frequent (30-79%)HP:0001977

Bleeding tendency

Frequent (30-79%)HP:0001892

Chronic lung infections

Frequent (30-79%)HP:0002783

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Enlarged liver

Frequent (30-79%)HP:0002240

Feeding difficulties

Frequent (30-79%)HP:0011968

Haemorrhagic disorders

Frequent (30-79%)HP:0001928

Impaired vision

Frequent (30-79%)HP:0000505

Invaginated nipples

Frequent (30-79%)HP:0003186

Poor weight gain

Frequent (30-79%)HP:0001508

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Short neck

Frequent (30-79%)HP:0000470

Abnormality of the posterior fossa

Occasional (5-29%)HP:0000932

Bilateral basal ganglia lesions

Occasional (5-29%)HP:0007146

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

Hyperintensity of cerebral white matter on MRI

Occasional (5-29%)HP:0030890

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 733084000
UMLS CUI: C2677590
Fully Specified Name: Congenital disorder of glycosylation type 1n (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.