Distal duplication 6p

disorder

SNOMED 722430008CUI C4302551

Overview

Distal duplication 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.

Abnormal hair quantity

Very frequent (80-99%)HP:0011362

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Abnormality of the eyelashes

Very frequent (80-99%)HP:0000499

Blepharophimosis

Very frequent (80-99%)HP:0000581

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Dry skin

Very frequent (80-99%)HP:0000958

Eye drop

Very frequent (80-99%)HP:0000508

Fine hair

Very frequent (80-99%)HP:0002213

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Narrow mouth

Very frequent (80-99%)HP:0000160

Prominent nasal root

Very frequent (80-99%)HP:0000426

Sacral dimple

Very frequent (80-99%)HP:0000960

Short neck

Very frequent (80-99%)HP:0000470

Small pointed chin

Very frequent (80-99%)HP:0000307

Abnormal antitragus morphology

Frequent (30-79%)HP:0009896

Absent/underdeveloped ear lobes

Frequent (30-79%)HP:0009906

Frontal protuberance

Frequent (30-79%)HP:0002007

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Long rib cage

Frequent (30-79%)HP:0100818

Low-set ears

Frequent (30-79%)HP:0000369

Squint

Frequent (30-79%)HP:0000486

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of the urinary system

Occasional (5-29%)HP:0000079

Aplasia/Hypoplasia affecting the eye

Occasional (5-29%)HP:0008056

Cataract

Occasional (5-29%)HP:0000518

Hernia

Occasional (5-29%)HP:0100790

Hydronephrosis

Occasional (5-29%)HP:0000126

Related Conditions

6p partial trisomy syndrome(parent)

Quick Facts

SNOMED CT: 722430008
UMLS CUI: C4302551
Fully Specified Name: Distal trisomy 6p 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.