Isochromosome 9p

disorder

SNOMED 715530004CUI C0795832

Overview

Isochromosome 9p 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 earlobe morphology

Frequent (30-79%)HP:0000363

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Enophthalmos

Frequent (30-79%)HP:0000490

Hooked nose

Frequent (30-79%)HP:0000444

Increased distance between eyes

Frequent (30-79%)HP:0000316

Near sighted

Frequent (30-79%)HP:0000545

Pilomatrixoma

Frequent (30-79%)HP:0030434

Speech and language difficulties

Frequent (30-79%)HP:0000750

Squint

Frequent (30-79%)HP:0000486

Wandering eye

Frequent (30-79%)HP:0000646

Abnormal chorioretinal morphology

Occasional (5-29%)HP:0000532

Abnormal mitral valve morphology

Occasional (5-29%)HP:0001633

Abnormal permanent tooth count

Occasional (5-29%)HP:0011044

Abnormal spinal cord morphology

Occasional (5-29%)HP:0002143

Abnormal tooth enamel

Occasional (5-29%)HP:0000682

Absent gallbladder

Occasional (5-29%)HP:0011467

Absent/small collarbone

Occasional (5-29%)HP:0006710

Arthritis

Occasional (5-29%)HP:0001369

Asymmetric overgrowth

Occasional (5-29%)HP:0001528

Atresia of bile ducts

Occasional (5-29%)HP:0005912

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Bilateral single transverse palmar creases

Occasional (5-29%)HP:0007598

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Central cleft palate

Occasional (5-29%)HP:0009099

Cerebral pachygyria

Occasional (5-29%)HP:0001302

Cleft of palate

Occasional (5-29%)HP:0000175

Cryptorchidism

Occasional (5-29%)HP:0000028

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Related Conditions

Partial tetrasomy of chromosome 9(parent)

Quick Facts

SNOMED CT: 715530004
UMLS CUI: C0795832
Fully Specified Name: Tetrasomy of short arm of chromosome 9 (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.