Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome

disorder

SNOMED 1254651003CUI C4225276

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.

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Impaired vision

Very frequent (80-99%)HP:0000505

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormal brain morphology

Frequent (30-79%)HP:0012443

ASD

Frequent (30-79%)HP:0000729

Cerebral hypomyelination

Frequent (30-79%)HP:0006808

CVI

Frequent (30-79%)HP:0100704

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Generalized non-motor (absence) seizure

Frequent (30-79%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to walk

Frequent (30-79%)HP:0002540

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Nonverbal

Frequent (30-79%)HP:0001344

Poor eye contact

Frequent (30-79%)HP:0000817

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Severe expressive language delay

Frequent (30-79%)HP:0006863

Severe receptive language delay

Frequent (30-79%)HP:0011352

Appendicular hypertonia

Occasional (5-29%)HP:0002509

Brain degeneration

Occasional (5-29%)HP:0012444

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Chronic constipation

Occasional (5-29%)HP:0012450

CNS hypomyelination

Occasional (5-29%)HP:0003429

Related Conditions

Congenital microcephalus(parent)

Global developmental delay(parent)

Hearing loss associated with syndrome(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital sensorineural hearing loss(parent)

Disease of skeletal muscle(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1254651003
UMLS CUI: C4225276
Fully Specified Name: Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone 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.