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49,XYYYY syndrome

disorder
SNOMED 734028007CUI C4518342

Overview

49,XYYYY 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.

Abnormality of end part of the elbow bone
Very frequent (80-99%)HP:0003946
Abnormality of the cerebral white matter
Very frequent (80-99%)HP:0002500
Abnormality of the testis size
Very frequent (80-99%)HP:0045058
Azoospermia
Very frequent (80-99%)HP:0000027
Behavioral symptoms
Very frequent (80-99%)HP:0000708
Coarse face
Very frequent (80-99%)HP:0000280
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Curvature of finger
Very frequent (80-99%)HP:0040019
Decreased function of male gonad
Very frequent (80-99%)HP:0000026
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
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
Fused forearm bones
Very frequent (80-99%)HP:0002974
Genitourinary disease
Very frequent (80-99%)HP:0000119
Gonadotropin excess
Very frequent (80-99%)HP:0000837
Gynaecomastia
Very frequent (80-99%)HP:0000771
Hypogenitalism
Very frequent (80-99%)HP:0003241
Hypoplastic/small little finger
Very frequent (80-99%)HP:0009237
Impulsivity
Very frequent (80-99%)HP:0100710
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Intolerance to frustration
Very frequent (80-99%)HP:0000744
Large carpals
Very frequent (80-99%)HP:0004237
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental-retardation
Very frequent (80-99%)HP:0001249
Outward turned elbows
Very frequent (80-99%)HP:0002967
Peripheral hypotonia
Very frequent (80-99%)HP:0001252

Related Conditions

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

Quick Facts

SNOMED CT
734028007
UMLS CUI
C4518342
Fully Specified Name
49,XYYYY 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.