Developmental malformation, deafness, dystonia syndrome

disorder

SNOMED 721092005CUI C4303590

Overview

Developmental malformation, deafness, dystonia 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.

Achalasia

Very frequent (80-99%)HP:0002571

Cleft lip, cleft palate

Very frequent (80-99%)HP:0000202

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased body height

Very frequent (80-99%)HP:0004322

Deglutition disorder

Very frequent (80-99%)HP:0002015

Externally rotated hips

Very frequent (80-99%)HP:0008796

Generalised dystonia

Very frequent (80-99%)HP:0007325

High forehead

Very frequent (80-99%)HP:0000348

Hunched back

Very frequent (80-99%)HP:0002808

Immune deficiency

Very frequent (80-99%)HP:0002721

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Micromelia

Very frequent (80-99%)HP:0002983

Scapular hypoplasia

Very frequent (80-99%)HP:0000882

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Blindness

Frequent (30-79%)HP:0000618

Cataract

Frequent (30-79%)HP:0000518

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Sensory hearing loss(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of nervous system(parent)

Generalized dystonia(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721092005
UMLS CUI: C4303590
Fully Specified Name: Developmental malformation, deafness, dystonia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.