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

disorder
SNOMED 771516000CUI C3806688

Overview

SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation 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.

Broad flat nasal bridge
Always present (100%)HP:0000431
Coarse face
Always present (100%)HP:0000280
Enlarged mandible
Always present (100%)HP:0000303
Epileptic encephalopathy
Always present (100%)HP:0200134
No speech development
Always present (100%)HP:0001344
Slack jawed appearance
Always present (100%)HP:0000194
Thick eyebrow
Always present (100%)HP:0000574
West syndrome
Always present (100%)HP:0011097
Abnormality of the nervous system
Very frequent (80-99%)HP:0000707
Dull intelligence
Very frequent (80-99%)HP:0001249
Hypotonia, early
Very frequent (80-99%)HP:0008947
Hypsarrhythmia by EEG
Very frequent (80-99%)HP:0002521
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Seizures
Very frequent (80-99%)HP:0001250
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Abnormal glycosylation
Frequent (30-79%)HP:0012345
Abnormal hands
Frequent (30-79%)HP:0001155
Abnormal isoelectric focusing of transferrin
Frequent (30-79%)HP:0003160
Abnormality of the cerebral white matter
Frequent (30-79%)HP:0002500
Abnormality of the respiratory system
Frequent (30-79%)HP:0002086
Aplasia/hypoplasia involving bones of the extremities
Frequent (30-79%)HP:0045060
Atria septal defect
Frequent (30-79%)HP:0001631
Cupid-bow shaped upper lip
Frequent (30-79%)HP:0002263
CVI
Frequent (30-79%)HP:0100704
Decreased body height
Frequent (30-79%)HP:0004322
Decreased galactosylation of N-linked protein glycosylation
Frequent (30-79%)HP:0012348
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased sialylation of O-linked protein glycosylation
Frequent (30-79%)HP:0012363
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deformity of face
Frequent (30-79%)HP:0001999

Related Conditions

X-linked hereditary disease(parent)
N-Acetylglucosaminyl transferase II deficiency(parent)
Metabolic encephalopathy(parent)
Inherited metabolic disorder of nervous system(parent)
DEE - developmental and epileptic encephalopathy(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
771516000
UMLS CUI
C3806688
Fully Specified Name
Solute carrier family 35 member A2 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.