COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation

disorder

SNOMED 721100009CUI C3150876

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.

Mental deficiency

Always present (100%)HP:0001249

Peripheral hypotonia

Always present (100%)HP:0001252

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Hypotonia, early

Very frequent (80-99%)HP:0008947

Speech delay

Very frequent (80-99%)HP:0000750

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Hyperplasia of nose

Frequent (30-79%)HP:0000448

Low-set ears

Frequent (30-79%)HP:0000369

Mental retardation, severe

Frequent (30-79%)HP:0010864

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Abnormal isoelectric focusing of transferrin

Occasional (5-29%)HP:0003160

Abnormal liver function tests

Occasional (5-29%)HP:0002910

Abnormality of the frontal hairline

Occasional (5-29%)HP:0000599

ASD

Occasional (5-29%)HP:0000729

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Brain degeneration

Occasional (5-29%)HP:0012444

Brainstem atrophy

Occasional (5-29%)HP:0007366

Brisk deep tendon reflexes

Occasional (5-29%)HP:0001348

Cerebral atrophy

Occasional (5-29%)HP:0002059

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

Contractures of the hands

Occasional (5-29%)HP:0009473

Cortical blindness

Occasional (5-29%)HP:0100704

Cryptorchidism

Occasional (5-29%)HP:0000028

Curvature of finger

Occasional (5-29%)HP:0040019

Decreased amniotic fluid index

Occasional (5-29%)HP:0001562

Delayed myelination

Occasional (5-29%)HP:0012448

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Enlarged liver

Occasional (5-29%)HP:0002240

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 721100009
UMLS CUI: C3150876
Fully Specified Name: Component of oligomeric golgi complex 5 congenital disorder of glycosylation (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.