Carbohydrate deficient glycoprotein syndrome type 2a

disorder

SNOMED 724142005CUI C2931008

Overview

Carbohydrate deficient glycoprotein syndrome type 2a 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

Deformity of face

Very frequent (80-99%)HP:0001999

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Reduced level of N-acetylglucosaminyltransferase II

Very frequent (80-99%)HP:0003655

Stimming

Very frequent (80-99%)HP:0000733

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Epilepsy

Frequent (30-79%)HP:0001250

Gum enlargement

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

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Short neck

Frequent (30-79%)HP:0000470

Undergrowth

Frequent (30-79%)HP:0001508

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Abnormal earlobe morphology

Occasional (5-29%)HP:0000363

Abnormal heart rate

Occasional (5-29%)HP:0011675

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

Combined immunodeficiency

Occasional (5-29%)HP:0005387

Decreased circulating immunoglobulin concentration

Occasional (5-29%)HP:0004313

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Quick Facts

SNOMED CT: 724142005
UMLS CUI: C2931008
Fully Specified Name: Carbohydrate deficient glycoprotein syndrome type 2a (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.