Isodicentric chromosome 15 syndrome

disorder

SNOMED 723332005CUI C3711376

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Autism spectrum disorder

Very frequent (80-99%)HP:0000729

Drooling

Very frequent (80-99%)HP:0002307

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Joint instability

Very frequent (80-99%)HP:0001382

Echologia

Frequent (30-79%)HP:0010529

Feeding difficulties

Frequent (30-79%)HP:0011968

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Repetitive behaviour Stereotypic behaviour

Frequent (30-79%)HP:0000733

Seizures

Frequent (30-79%)HP:0001250

Self-biting

Frequent (30-79%)HP:0012169

Severe expressive language delay

Frequent (30-79%)HP:0006863

Severe receptive language delay

Frequent (30-79%)HP:0011352

Abnormal brain morphology

Occasional (5-29%)HP:0012443

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Brachydactyly

Occasional (5-29%)HP:0001156

Broad, upturned nose

Occasional (5-29%)HP:0000455

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Distortion of face

Occasional (5-29%)HP:0001999

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Enophthalmos

Occasional (5-29%)HP:0000490

Growth deficiency

Occasional (5-29%)HP:0001510

High arched palate

Occasional (5-29%)HP:0000218

Palpebronasal fold

Occasional (5-29%)HP:0000286

partial or complete syndactyly 2nd-3rd toes

Occasional (5-29%)HP:0004691

physical aggression

Occasional (5-29%)HP:0000718

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Short and broad skull

Occasional (5-29%)HP:0000248

Related Conditions

Anomaly of chromosome pair 15(parent)

Pervasive developmental disorder(parent)

Intellectual disability(parent)

Congenital malformation(parent)

Quick Facts

SNOMED CT: 723332005
UMLS CUI: C3711376
Fully Specified Name: Isodicentric chromosome 15 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.