Congenital disorder of glycosylation type 1j

disorder

SNOMED 725079003CUI C2931004

Overview

Congenital disorder of glycosylation type 1j 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.

Cognitive delay

Always present (100%)HP:0001263

Curvature of little finger

Always present (100%)HP:0004209

Infantile spasms

Always present (100%)HP:0012469

Peripheral hypotonia

Always present (100%)HP:0001252

Single flexion crease

Always present (100%)HP:0000954

Type I transferrin isoform profile

Always present (100%)HP:0003642

Cataract, congenital

Frequent (30-79%)HP:0000519

Epilepsy

Frequent (30-79%)HP:0001250

Hypotonia, early

Frequent (30-79%)HP:0008947

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Increased liver function tests

Frequent (30-79%)HP:0002910

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Anasarca

Occasional (5-29%)HP:0012050

Antithrombin III deficiency

Occasional (5-29%)HP:0001976

Apnea

Occasional (5-29%)HP:0002104

Arachnodactyly

Occasional (5-29%)HP:0001166

Autism

Occasional (5-29%)HP:0000717

Brain imaging abnormality

Occasional (5-29%)HP:0410263

Camptodactyly

Occasional (5-29%)HP:0012385

Cerebellar abnormality

Occasional (5-29%)HP:0001317

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Clinodactyly

Occasional (5-29%)HP:0030084

CNS hypomyelination

Occasional (5-29%)HP:0003429

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased size of cranium

Occasional (5-29%)HP:0000252

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 725079003
UMLS CUI: C2931004
Fully Specified Name: Congenital disorder of glycosylation type 1j (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.