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Monosomy 9p13

disorder
SNOMED 764725008CUI C4707097

Overview

Monosomy 9p13 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.

Behavioral symptoms
Very frequent (80-99%)HP:0000708
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Bruxism
Very frequent (80-99%)HP:0003763
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Global developmental delay, mild
Very frequent (80-99%)HP:0011342
Jerking
Very frequent (80-99%)HP:0001336
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Retromicrognathia
Very frequent (80-99%)HP:0000308
Abnormal external ear cartilage morphology
Frequent (30-79%)HP:3000022
Decreased body height
Frequent (30-79%)HP:0004322
Esotropia
Frequent (30-79%)HP:0000565
Low-set ears
Frequent (30-79%)HP:0000369
tremors in hands
Frequent (30-79%)HP:0002378
Wide skull shape
Frequent (30-79%)HP:0000248
Absent palm lines
Occasional (5-29%)HP:0010489
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Cafe-au-lait spots
Occasional (5-29%)HP:0000957
Dry skin
Occasional (5-29%)HP:0000958
High arched palate
Occasional (5-29%)HP:0000218
Hyperopia
Occasional (5-29%)HP:0000540
Hypogenitalism
Occasional (5-29%)HP:0003241
Hypoplastic toenails
Occasional (5-29%)HP:0001800
Metopic synostosis
Occasional (5-29%)HP:0011330
Nail overcurvature
Occasional (5-29%)HP:0001795
Palpebronasal fold
Occasional (5-29%)HP:0000286
Precocious puberty
Occasional (5-29%)HP:0000826
Recurrent middle ear infection
Occasional (5-29%)HP:0000403
Scoliosis
Occasional (5-29%)HP:0002650
Stiff joint
Occasional (5-29%)HP:0001387
Thick eyebrow
Occasional (5-29%)HP:0000574

Quick Facts

SNOMED CT
764725008
UMLS CUI
C4707097
Fully Specified Name
9p13 microdeletion 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.