8p11.2 deletion syndrome

disorder

SNOMED 719646006CUI C4304505

Overview

8p11.2 deletion syndrome 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.

Abnormality of the hypothalamus-pituitary axis

Very frequent (80-99%)HP:0000864

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Hemolytic anaemia

Very frequent (80-99%)HP:0001878

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Isolated hypogonadotropic hypogonadism

Very frequent (80-99%)HP:0000044

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Spherocytosis

Very frequent (80-99%)HP:0004444

Azoospermia

Frequent (30-79%)HP:0000027

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dysplastic ears

Frequent (30-79%)HP:0000377

High arched palate

Frequent (30-79%)HP:0000218

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Preauricular fistulas

Frequent (30-79%)HP:0004467

Atria septal defect

Occasional (5-29%)HP:0001631

Blepharophimosis

Occasional (5-29%)HP:0000581

Breakdown of light-sensitive cells in back of eye

Occasional (5-29%)HP:0000556

Concave bridge of nose

Occasional (5-29%)HP:0005280

Cornea of eye less than 10mm in diameter

Occasional (5-29%)HP:0000482

Feeding difficulties

Occasional (5-29%)HP:0011968

Fetal foot inversion

Occasional (5-29%)HP:0001762

Increased distance between eyes

Occasional (5-29%)HP:0000316

Iris coloboma

Occasional (5-29%)HP:0000612

Large spleen

Occasional (5-29%)HP:0001744

Lost smell

Occasional (5-29%)HP:0000458

Mitral valve prolapse

Occasional (5-29%)HP:0001634

Mongoloid slant

Occasional (5-29%)HP:0000582

Related Conditions

8p partial monosomy syndrome(parent)

Quick Facts

SNOMED CT: 719646006
UMLS CUI: C4304505
Fully Specified Name: 8p11.2 deletion 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.