N-Acetylglucosaminyl transferase II deficiency

disorder

SNOMED 277894008CUI C2931008

Overview

N-Acetylglucosaminyl transferase II deficiency 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.

Macrotia

Always present (100%)HP:0000400

Mental retardation, severe

Always present (100%)HP:0010864

Severe psychomotor retardation

Always present (100%)HP:0011344

Type II transferrin isoform profile

Always present (100%)HP:0012301

Cognitive delay

Very frequent (80-99%)HP:0001263

Malformation of face

Very frequent (80-99%)HP:0001999

Reduced level of N-acetylglucosaminyltransferase II

Very frequent (80-99%)HP:0003655

Repetitive behaviour Stereotypic behaviour

Very frequent (80-99%)HP:0000733

Central hypotonia

Frequent (30-79%)HP:0001252

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Gingival hyperplasia

Frequent (30-79%)HP:0000212

Hyperplasia of tooth

Frequent (30-79%)HP:0001572

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased size of mandible

Frequent (30-79%)HP:0000303

Low-set ears

Frequent (30-79%)HP:0000369

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Poor weight gain

Frequent (30-79%)HP:0001508

Seizures

Frequent (30-79%)HP:0001250

Short neck

Frequent (30-79%)HP:0000470

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Abnormal earlobe morphology

Occasional (5-29%)HP:0000363

Abnormality of the common coagulation pathway

Occasional (5-29%)HP:0010990

Anomaly of scalp

Occasional (5-29%)HP:0001965

Bleeding tendency

Occasional (5-29%)HP:0001892

Brachydactyly

Occasional (5-29%)HP:0001156

Brain wasting

Occasional (5-29%)HP:0012444

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Combined immunodeficiency

Occasional (5-29%)HP:0005387

Decreased circulating immunoglobulin concentration

Occasional (5-29%)HP:0004313

Related Conditions

CDG2G - carbohydrate deficient glycoprotein syndrome type 2G(child)

Carbohydrate deficient glycoprotein syndrome type 2j(child)

Component of oligomeric golgi complex 7 congenital disorder of glycosylation(child)

COG8 congenital disorder of glycosylation(child)

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

Carbohydrate deficient glycoprotein syndrome type 2a(child)

Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation(child)

Carbohydrate deficient glycoprotein syndrome type 2d(child)

Carbohydrate deficient glycoprotein syndrome type 2k(child)

Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1(child)

SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation(child)

Solute carrier family 39 member 8 congenital disorder of glycosylation(child)

Coiled-coil domain containing 115 congenital disorder of glycosylation(child)

Transmembrane protein 199 congenital disorder of glycosylation(child)

Component of oligomeric golgi complex 6-congenital disorder of glycosylation(child)

Carbohydrate-deficient glycoprotein syndrome(parent)

Quick Facts

SNOMED CT: 277894008
UMLS CUI: C2931008
Fully Specified Name: Carbohydrate-deficient glycoprotein syndrome type II (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.