Congenital disorder of glycosylation type Ia

disorder

SNOMED 459063003CUI C0349653

Overview

Source: MedlinePlus.gov, National Library of Medicine. 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

Muscular 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

Cerebellar tremor

Frequent (30-79%)HP:0002080

Convergent squint

Frequent (30-79%)HP:0020045

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed myelination

Frequent (30-79%)HP:0012448

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Distortion of face

Frequent (30-79%)HP:0001999

Duodenal villous atrophy

Frequent (30-79%)HP:0011473

Enlarged liver

Frequent (30-79%)HP:0002240

Epilepsy

Frequent (30-79%)HP:0001250

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

Related Conditions

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 459063003
UMLS CUI: C0349653
Fully Specified Name: Congenital disorder of glycosylation type Ia (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.