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XXXXY syndrome

disorder
SNOMED 38847009CUI C0265499

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.

Abnormal tooth enamel
Very frequent (80-99%)HP:0000682
Azoospermia
Very frequent (80-99%)HP:0000027
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased activity of gonads
Very frequent (80-99%)HP:0000135
Decreased testicular size
Very frequent (80-99%)HP:0008734
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Infertility
Very frequent (80-99%)HP:0000789
Language impairment
Very frequent (80-99%)HP:0002463
Open bite
Very frequent (80-99%)HP:0010807
Poor school performance
Very frequent (80-99%)HP:0001249
Rotting teeth
Very frequent (80-99%)HP:0000670
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Autism
Frequent (30-79%)HP:0000717
Blepharophimosis
Frequent (30-79%)HP:0000581
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Constipation
Frequent (30-79%)HP:0002019
Cryptorchidism
Frequent (30-79%)HP:0000028
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Dysplastic kidneys
Frequent (30-79%)HP:0000110
Epilepsy
Frequent (30-79%)HP:0001250
Fallen arches
Frequent (30-79%)HP:0001763
Fused forearm bones
Frequent (30-79%)HP:0002974
Gynaecomastia
Frequent (30-79%)HP:0000771
Increased distance between eyes
Frequent (30-79%)HP:0000316
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Large elongated pulp chamber
Frequent (30-79%)HP:0000679

Quick Facts

SNOMED CT
38847009
UMLS CUI
C0265499
Fully Specified Name
XXXXY syndrome (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.