CDG2G - carbohydrate deficient glycoprotein syndrome type 2G

disorder

SNOMED 718750004CUI C2931011

Overview

CDG2G - carbohydrate deficient glycoprotein syndrome type 2G 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

Decreased size of cranium

Always present (100%)HP:0000252

Degeneration of cerebrum

Always present (100%)HP:0002059

Disproportionately small hands

Always present (100%)HP:0200055

Failure to thrive in first year of life

Always present (100%)HP:0001531

Feeding difficulties in infancy

Always present (100%)HP:0008872

Infratentorial atrophy

Always present (100%)HP:0001272

Left ventricular wall hypertrophy

Always present (100%)HP:0001712

Low-set ears

Always present (100%)HP:0000369

Mongoloid slant

Always present (100%)HP:0000582

Muscular hypotonia

Always present (100%)HP:0001252

Abnormality of the macula

Frequent (30-79%)HP:0001103

Anterior bulging of the globe of eye

Frequent (30-79%)HP:0000520

Atrial septal aneurysm

Frequent (30-79%)HP:0011995

Brain degeneration

Frequent (30-79%)HP:0012444

Broad femoral neck

Frequent (30-79%)HP:0006429

Camptodactyly

Frequent (30-79%)HP:0012385

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Cholesteatoma

Frequent (30-79%)HP:0009797

Cleft of palate

Frequent (30-79%)HP:0000175

Convergent squint

Frequent (30-79%)HP:0020045

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Delayed ability to walk

Frequent (30-79%)HP:0031936

Dilatation of lateral cerebral ventricles

Frequent (30-79%)HP:0006956

Fetal foot inversion

Frequent (30-79%)HP:0001762

Flat philtrum

Frequent (30-79%)HP:0000319

Giant platelets

Frequent (30-79%)HP:0001902

Growth delay as children

Frequent (30-79%)HP:0008897

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 718750004
UMLS CUI: C2931011
Fully Specified Name: Component of oligomeric golgi complex 1 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.