Xq12-q13.3 duplication syndrome

disorder

SNOMED 764711007CUI C4707094

Overview

Xq12-q13.3 duplication 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 basal ganglia MRI signal intensity

Very frequent (80-99%)HP:0012751

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Agitation

Very frequent (80-99%)HP:0000713

Autism spectrum disorder

Very frequent (80-99%)HP:0000729

Behavioural/Psychiatric abnormality

Very frequent (80-99%)HP:0000708

Binge and purge

Very frequent (80-99%)HP:0100739

Central hypotonia

Very frequent (80-99%)HP:0001252

Cleft earlobe

Very frequent (80-99%)HP:0011265

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased circulating alkaline phosphatase activity

Very frequent (80-99%)HP:0003282

Decreased serum insulin-like growth factor 1

Very frequent (80-99%)HP:0030353

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Eclabium of lower lip

Very frequent (80-99%)HP:0000232

Eczema

Very frequent (80-99%)HP:0000964

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Hypsarrhythmia by EEG

Very frequent (80-99%)HP:0002521

Impaired pain sensation

Very frequent (80-99%)HP:0007328

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Inverted triangular face

Very frequent (80-99%)HP:0000325

Multiple pigmented nevi

Very frequent (80-99%)HP:0001054

Muscle atrophy, generalised

Very frequent (80-99%)HP:0003700

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Optic disc pallor

Very frequent (80-99%)HP:0000543

Palpebronasal fold

Very frequent (80-99%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Very frequent (80-99%)HP:0004691

Pectus excavatum

Very frequent (80-99%)HP:0000767

Related Conditions

Anomaly of chromosome X(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 764711007
UMLS CUI: C4707094
Fully Specified Name: Xq12-q13.3 duplication 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.