Distal deletion 6p

disorder

SNOMED 718688008CUI C4305276

Overview

Distal deletion 6p 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.

Anterior chamber anomalies

Very frequent (80-99%)HP:0000593

Cognitive delay

Very frequent (80-99%)HP:0001263

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Low-set ears

Very frequent (80-99%)HP:0000369

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Atria septal defect

Frequent (30-79%)HP:0001631

Concave bridge of nose

Frequent (30-79%)HP:0005280

Deafness

Frequent (30-79%)HP:0000365

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Dental problems

Frequent (30-79%)HP:0000164

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Embryotoxon

Frequent (30-79%)HP:0000627

Flat philtrum

Frequent (30-79%)HP:0000319

Glaucoma

Frequent (30-79%)HP:0000501

High-grade hypermetropia

Frequent (30-79%)HP:0008499

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased nasal width

Frequent (30-79%)HP:0000445

Increased width of the forehead

Frequent (30-79%)HP:0000337

Iridocorneal adhesions

Frequent (30-79%)HP:0011483

Iris hypoplasia

Frequent (30-79%)HP:0007676

Nostrils anteverted

Frequent (30-79%)HP:0000463

Palpebronasal fold

Frequent (30-79%)HP:0000286

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Small nasal alae

Frequent (30-79%)HP:0000430

Squint

Frequent (30-79%)HP:0000486

Abnormal spinal segmentation

Occasional (5-29%)HP:0003422

Anomaly of the epiphyses

Occasional (5-29%)HP:0005930

Related Conditions

Deletion of part of short arm of chromosome 6(parent)

Quick Facts

SNOMED CT: 718688008
UMLS CUI: C4305276
Fully Specified Name: Distal monosomy 6p (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.