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Xp21 microdeletion syndrome

disorder
SNOMED 1295529002CUI C4505291

Overview

Xp21 microdeletion 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.

Addison's disease
Very frequent (80-99%)HP:0008207
Congenital hypotonia
Very frequent (80-99%)HP:0001319
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
Hypoadrenalism
Very frequent (80-99%)HP:0000846
Increased triglycerides
Very frequent (80-99%)HP:0002155
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Ketoacidosis
Very frequent (80-99%)HP:0001993
Myopathy
Very frequent (80-99%)HP:0003198
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Osteoporosis
Very frequent (80-99%)HP:0000939
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Very poor growth
Very frequent (80-99%)HP:0001510
Confusion
Frequent (30-79%)HP:0001289
Decreased muscle mass
Frequent (30-79%)HP:0003199
Esotropia
Frequent (30-79%)HP:0000565
Finger clinodactyly
Frequent (30-79%)HP:0040019
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Protruding lower lip
Frequent (30-79%)HP:0000232
Squint
Frequent (30-79%)HP:0000486
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Apneic episodes in infancy
Occasional (5-29%)HP:0005949
Epilepsy
Occasional (5-29%)HP:0001250
Hyperopia
Occasional (5-29%)HP:0000540
Joint ligamentous laxity
Occasional (5-29%)HP:0001382
Muscle fatigue
Occasional (5-29%)HP:0003750
Muscle pain with exercise
Occasional (5-29%)HP:0003738

Related Conditions

Anomaly of chromosome X(parent)
Deficiency of glycerol kinase(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Inborn error of metabolism(parent)
Congenital hypoplasia of adrenal gland(parent)

Quick Facts

SNOMED CT
1295529002
UMLS CUI
C4505291
Fully Specified Name
Xp21 deletion 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.