Carbohydrate-deficient glycoprotein syndrome type I

disorder

SNOMED 277893002CUI C0349653

Overview

Carbohydrate-deficient glycoprotein syndrome type I 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.

Almond shaped eyes

Always present (100%)HP:0007874

Muscle weakness

Always present (100%)HP:0001324

Reduced tissue phosphomannomutase activity

Always present (100%)HP:6000781

Type I transferrin isoform profile

Always present (100%)HP:0003642

High arched palate

Very frequent (80-99%)HP:0000218

Mongoloid slant

Very frequent (80-99%)HP:0000582

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Squint

Very frequent (80-99%)HP:0000486

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Abnormal subcutaneous fat tissue distribution

Frequent (30-79%)HP:0007552

Areflexia

Frequent (30-79%)HP:0001284

Bulging forehead

Frequent (30-79%)HP:0011220

Convergent squint

Frequent (30-79%)HP:0020045

Cystic kidney disease

Frequent (30-79%)HP:0000107

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed language development

Frequent (30-79%)HP:0000750

Delayed myelination

Frequent (30-79%)HP:0012448

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Dysmorphic facies

Frequent (30-79%)HP:0001999

Enlarged liver

Frequent (30-79%)HP:0002240

Esotropia

Frequent (30-79%)HP:0000565

Fallen arches

Frequent (30-79%)HP:0001763

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Hyperplasia of nose

Frequent (30-79%)HP:0000448

Hyporeflexia

Frequent (30-79%)HP:0001265

Inability to make and keep healthy fat tissue

Frequent (30-79%)HP:0009125

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Related Conditions

Congenital disorder of glycosylation type Ia(child)

Carbohydrate deficient glycoprotein syndrome type V(child)

ALG12-congenital disorder of glycosylation(child)

Carbohydrate deficient glycoprotein syndrome type 1m(child)

Asparagine-linked glycosylation 1 congenital disorder of glycosylation(child)

Asparagine-linked glycosylation 3 congenital disorder of glycosylation(child)

Asparagine-linked glycosylation 8 congenital disorder of glycosylation(child)

Asparagine-linked glycosylation 9 congenital disorder of glycosylation(child)

Carbohydrate deficient glycoprotein syndrome type 1o(child)

Congenital disorder of glycosylation type 1f(child)

Congenital disorder of glycosylation type 1e(child)

Congenital disorder of glycosylation type 1j(child)

Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation(child)

RFT1-CDG (congenital disorder of glycosylation)(child)

Congenital disorder of glycosylation type Ip(child)

Congenital disorder of glycosylation type Is(child)

STT3A-CDG (congenital disorder of glycosylation)(child)

Congenital disorder of glycosylation type Ix(child)

Signal sequence receptor subunit 4 congenital disorder of glycosylation(child)

SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation(child)

Quick Facts

SNOMED CT: 277893002
UMLS CUI: C0349653
Fully Specified Name: Carbohydrate-deficient glycoprotein syndrome type I (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.