Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

disorder

SNOMED 770751003CUI C4749456

Overview

Severe motor and intellectual disabilities, sensorineural 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.

Corticospinal signs

Very frequent (80-99%)HP:0007256

Deafness

Very frequent (80-99%)HP:0000365

Malformation of face

Very frequent (80-99%)HP:0001999

Undergrowth

Very frequent (80-99%)HP:0001508

Cerebral hypomyelination

Frequent (30-79%)HP:0006808

Decreased size of cranium

Frequent (30-79%)HP:0000252

Intermittent fever

Frequent (30-79%)HP:0001954

Quadriplegia

Frequent (30-79%)HP:0002445

Small for gestational age infant

Frequent (30-79%)HP:0001511

Squint

Frequent (30-79%)HP:0000486

Aggression

Occasional (5-29%)HP:0000718

Atrophy of the corpus callosum

Occasional (5-29%)HP:0007371

Brain degeneration

Occasional (5-29%)HP:0012444

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

CNS hypomyelination

Occasional (5-29%)HP:0003429

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Eye movement issue

Occasional (5-29%)HP:0000496

hyperkinetic disorder

Occasional (5-29%)HP:0000752

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Dystonia(parent)

Hereditary disorder of nervous system(parent)

Hearing loss associated with syndrome(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Congenital sensorineural hearing loss(parent)

Disorder of ear(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 770751003
UMLS CUI: C4749456
Fully Specified Name: Severe motor and intellectual disabilities, sensorineural 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.