Congenital muscular dystrophy with intellectual disability

disorder

SNOMED 783174004CUI C5190846

Overview

Congenital muscular dystrophy with intellectual disability 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.

Dull intelligence

Very frequent (80-99%)HP:0001249

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypoglycosylation of alpha-dystroglycan

Very frequent (80-99%)HP:0030046

Hypotonia, early

Very frequent (80-99%)HP:0008947

Reduced muscle fiber alpha dystroglycan

Very frequent (80-99%)HP:0030099

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Decreased size of cranium

Frequent (30-79%)HP:0000252

Fatigable weakness of skeletal muscles

Frequent (30-79%)HP:0030197

Feeding difficulties

Frequent (30-79%)HP:0011968

Increased size of calf muscles

Frequent (30-79%)HP:0008981

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Mental and motor retardation

Frequent (30-79%)HP:0001263

Multiple joint contractures

Frequent (30-79%)HP:0002828

No development of motor milestones

Frequent (30-79%)HP:0001270

Poor gross motor coordination

Frequent (30-79%)HP:0007015

Abnormal pons morphology

Occasional (5-29%)HP:0007361

Abnormality of connective tissue

Occasional (5-29%)HP:0003549

Abnormality of lingual muscle

Occasional (5-29%)HP:0040173

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Axial muscle weakness

Occasional (5-29%)HP:0003327

Brain and/or spinal cord issue

Occasional (5-29%)HP:0000707

Cerebellar vermis hypoplasia

Occasional (5-29%)HP:0001320

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cryptorchidism

Occasional (5-29%)HP:0000028

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Diminished deep tendon reflexes

Occasional (5-29%)HP:0001315

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Eye disease

Occasional (5-29%)HP:0000478

Facial palsy

Occasional (5-29%)HP:0010628

Hypertrophic muscles

Occasional (5-29%)HP:0003712

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Congenital hereditary muscular dystrophy(parent)

Chronic metabolic disease(parent)

Chronic brain syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 783174004
UMLS CUI: C5190846
Fully Specified Name: Congenital muscular dystrophy with intellectual disability (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.