Congenital muscular dystrophy with cerebellar involvement

disorder

SNOMED 783176002CUI C5190848

Overview

Congenital muscular dystrophy with cerebellar involvement 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.

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypoglycosylation of alpha-dystroglycan

Very frequent (80-99%)HP:0030046

Muscular dystrophy

Very frequent (80-99%)HP:0003560

Reduced muscle fiber alpha dystroglycan

Very frequent (80-99%)HP:0030099

Abnormal brain morphology

Frequent (30-79%)HP:0012443

Abnormality of brainstem morphology

Frequent (30-79%)HP:0002363

Calf muscle pseudohypertrophy

Frequent (30-79%)HP:0003707

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Cobblestone lissencephaly

Frequent (30-79%)HP:0007260

Corticospinal signs

Frequent (30-79%)HP:0007256

Decreased size of cranium

Frequent (30-79%)HP:0000252

Diffuse white matter abnormalities

Frequent (30-79%)HP:0007204

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Gray matter heterotopias

Frequent (30-79%)HP:0002282

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Small cerebellum

Frequent (30-79%)HP:0001321

Abnormality iris morphology

Occasional (5-29%)HP:0000525

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Cataract

Occasional (5-29%)HP:0000518

Cerebellar cysts

Occasional (5-29%)HP:0002350

Clonus

Occasional (5-29%)HP:0002169

Decreased thalamic volume

Occasional (5-29%)HP:0012695

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Double ring sign

Occasional (5-29%)HP:0000609

Related Conditions

Congenital cerebellar hypoplasia(parent)

Combined malformation of central nervous system and skeletal muscle(parent)

Inherited metabolic disorder of nervous system(parent)

Congenital hereditary muscular dystrophy(parent)

Chronic metabolic disease(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 783176002
UMLS CUI: C5190848
Fully Specified Name: Congenital muscular dystrophy with cerebellar involvement (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.