Distal deletion 9p

disorder

SNOMED 763530000CUI C0265425

Overview

Distal deletion 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Cognitive delay

Very frequent (80-99%)HP:0001263

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Microtia

Very frequent (80-99%)HP:0008551

Mongoloid slant

Very frequent (80-99%)HP:0000582

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Narrow, high-arched roof of mouth

Very frequent (80-99%)HP:0002705

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent eyes

Very frequent (80-99%)HP:0000520

Short neck

Very frequent (80-99%)HP:0000470

Small midface

Very frequent (80-99%)HP:0011800

Trigonocephaly

Very frequent (80-99%)HP:0000243

Absent/underdeveloped ear lobes

Frequent (30-79%)HP:0009906

Brachydactyly

Frequent (30-79%)HP:0001156

Dental anomalies

Frequent (30-79%)HP:0000164

Helix abnormal

Frequent (30-79%)HP:0011039

Hernia

Frequent (30-79%)HP:0100790

Hypospadias

Frequent (30-79%)HP:0000047

Palpebronasal fold

Frequent (30-79%)HP:0000286

Underdeveloped vaginal lips

Frequent (30-79%)HP:0000059

Wide thorax

Frequent (30-79%)HP:0100625

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Cleft of palate

Occasional (5-29%)HP:0000175

Related Conditions

9p24.3 deletion syndrome(child)

Deletion of part of chromosome 9(parent)

Quick Facts

SNOMED CT: 763530000
UMLS CUI: C0265425
Fully Specified Name: Distal monosomy 9p syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.