Congenital muscular dystrophy with intellectual disability and severe epilepsy

disorder

SNOMED 782772000CUI C5190603

Overview

Congenital muscular dystrophy with intellectual disability and severe epilepsy 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.

Absent smooth pursuit

Frequent (30-79%)HP:0007179

Contractures of the large joints

Frequent (30-79%)HP:0005781

Deformity of face

Frequent (30-79%)HP:0001999

Delay in head control

Frequent (30-79%)HP:0002421

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Generalized clonic seizures

Frequent (30-79%)HP:0011169

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Myopathic facial appearance

Frequent (30-79%)HP:0002058

Nonverbal

Frequent (30-79%)HP:0001344

Optic atrophy

Frequent (30-79%)HP:0000648

Osteopenia

Frequent (30-79%)HP:0000938

Type I transferrin isoform profile

Frequent (30-79%)HP:0003642

Undergrowth

Frequent (30-79%)HP:0001508

Abnormal liver function

Occasional (5-29%)HP:0002910

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Angle class 3 malocclusion

Occasional (5-29%)HP:0000689

Antithrombin III deficiency

Occasional (5-29%)HP:0001976

Depressed philtrum

Occasional (5-29%)HP:0002002

EEG with burst suppression

Occasional (5-29%)HP:0010851

Enlarged liver

Occasional (5-29%)HP:0002240

High arched palate

Occasional (5-29%)HP:0000218

Hydramnios

Occasional (5-29%)HP:0001561

Hypogenitalism

Occasional (5-29%)HP:0003241

Laboured breathing

Occasional (5-29%)HP:0002098

Low anterior hairline

Occasional (5-29%)HP:0000294

Nasogastric tube feeding

Occasional (5-29%)HP:0040288

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Congenital hereditary muscular dystrophy(parent)

Chronic metabolic disease(parent)

Chronic brain syndrome(parent)

Inherited metabolic disorder of nervous system(parent)

Epilepsy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782772000
UMLS CUI: C5190603
Fully Specified Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy (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.