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49,XXXYY syndrome

disorder
SNOMED 770908007CUI C4749586

Overview

49,XXXYY syndrome 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.

Abnormal prints on feet
Very frequent (80-99%)HP:0010506
Abnormality of the testis size
Very frequent (80-99%)HP:0045058
Ambiguous external genitalia
Very frequent (80-99%)HP:0000062
ASD
Very frequent (80-99%)HP:0000729
Behavioural disorders
Very frequent (80-99%)HP:0000708
Bilateral clubfeet
Very frequent (80-99%)HP:0001776
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Bulging forehead
Very frequent (80-99%)HP:0011220
Cortical white matter abnormalities seen on MRI
Very frequent (80-99%)HP:0002500
Curvature of finger
Very frequent (80-99%)HP:0040019
Decreased function of male gonad
Very frequent (80-99%)HP:0000026
Decreased serum testosterone level
Very frequent (80-99%)HP:0040171
Decreased testicular size
Very frequent (80-99%)HP:0008734
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Eunuchoid habitus
Very frequent (80-99%)HP:0003782
Funny looking face
Very frequent (80-99%)HP:0001999
Gonadotropin excess
Very frequent (80-99%)HP:0000837
Gynaecomastia
Very frequent (80-99%)HP:0000771
Hypertrophy of mandible
Very frequent (80-99%)HP:0000303
Hypogenitalism
Very frequent (80-99%)HP:0003241
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intolerance to frustration
Very frequent (80-99%)HP:0000744
Low chest circumference
Very frequent (80-99%)HP:0000774
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental-retardation
Very frequent (80-99%)HP:0001249
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Primary gonadal insufficiency
Very frequent (80-99%)HP:0008193

Related Conditions

Sex chromosome aneuploidy(parent)
Anomaly of chromosome Y(parent)
Anomaly of chromosome X(parent)
Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT
770908007
UMLS CUI
C4749586
Fully Specified Name
49,XXXYY 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.