Hirschsprung disease and intellectual disability due to del(2)(q22)

disorder

SNOMED 890118006CUI C5437617

Overview

Hirschsprung disease and intellectual disability due to del(2)(q22) 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.

Deficit in expressive language

Very frequent (80-99%)HP:0002474

Happy demeanour

Very frequent (80-99%)HP:0040082

Malformation of face

Very frequent (80-99%)HP:0001999

Mental-retardation

Very frequent (80-99%)HP:0001249

Nonverbal

Very frequent (80-99%)HP:0001344

Abnormality of hippocampus morphology

Frequent (30-79%)HP:0025100

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Aganglionic megacolon

Frequent (30-79%)HP:0002251

Anal incontinence

Frequent (30-79%)HP:0002607

Atypical absence

Frequent (30-79%)HP:0007270

Cardiac anomaly

Frequent (30-79%)HP:0001627

Corpus callosum abnormality

Frequent (30-79%)HP:0001273

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Deep set eye

Frequent (30-79%)HP:0000490

Delayed ability to walk

Frequent (30-79%)HP:0031936

Dilatation of lateral cerebral ventricles

Frequent (30-79%)HP:0006956

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Epilepsy

Frequent (30-79%)HP:0001250

Fine motor skill dysfunction

Frequent (30-79%)HP:0007010

Focal seizures

Frequent (30-79%)HP:0007359

Genitourinary disease

Frequent (30-79%)HP:0000119

Hooked nose

Frequent (30-79%)HP:0000444

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypospadias

Frequent (30-79%)HP:0000047

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased height of lower lip vermilion

Frequent (30-79%)HP:0000179

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Increased size of mandible

Frequent (30-79%)HP:0000303

Related Conditions

Mowat-Wilson syndrome(parent)

Gastrointestinal complication(parent)

Quick Facts

SNOMED CT: 890118006
UMLS CUI: C5437617
Fully Specified Name: Mowat-Wilson syndrome due to monosomy 2q22 (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.