Der(22) syndrome due to 3:1 meiotic disjunction events

disorder

SNOMED 702417004CUI C1836929

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.

Mental and motor retardation

Always present (100%)HP:0001263

2 vessel cord

Frequent (30-79%)HP:0001195

Aortic stenosis

Frequent (30-79%)HP:0001650

Congenital hip dislocations

Frequent (30-79%)HP:0001374

Cryptorchidism

Frequent (30-79%)HP:0000028

Deafness

Frequent (30-79%)HP:0000365

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Deglutition disorder

Frequent (30-79%)HP:0002015

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Delayed primary teeth eruption

Frequent (30-79%)HP:0000680

Drooling

Frequent (30-79%)HP:0002307

Dyschezia

Frequent (30-79%)HP:0002019

Ectopic anus

Frequent (30-79%)HP:0004397

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High arched palate

Frequent (30-79%)HP:0000218

Hooded eyelid

Frequent (30-79%)HP:0030820

Hunched back

Frequent (30-79%)HP:0002808

Increased length of philtrum

Frequent (30-79%)HP:0000343

Infertility

Frequent (30-79%)HP:0000789

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Large pinnae

Frequent (30-79%)HP:0000400

Low-set ears

Frequent (30-79%)HP:0000369

Low-set nipples

Frequent (30-79%)HP:0002562

Misalignment of teeth

Frequent (30-79%)HP:0000692

Muscular hypotonia

Frequent (30-79%)HP:0001252

Near sighted

Frequent (30-79%)HP:0000545

Poor school performance

Frequent (30-79%)HP:0001249

Poor weight gain

Frequent (30-79%)HP:0001508

Related Conditions

Chromosomopathy(parent)

Quick Facts

SNOMED CT: 702417004
UMLS CUI: C1836929
Fully Specified Name: Supernumerary der(22)t(11;22) 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.