Muscle eye brain disease with bilateral multicystic leucodystrophy

disorder

SNOMED 785298001CUI C5191414

Overview

Muscle eye brain disease with bilateral multicystic leucodystrophy 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.

Abnormal pons morphology

Frequent (30-79%)HP:0007361

Abnormality of brainstem morphology

Frequent (30-79%)HP:0002363

Agyria diffuse

Frequent (30-79%)HP:0031882

Cerebellar cysts

Frequent (30-79%)HP:0002350

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Delay in head control

Frequent (30-79%)HP:0002421

Delayed ability to sit

Frequent (30-79%)HP:0025336

Delayed ability to walk

Frequent (30-79%)HP:0031936

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

EEG with focal spike waves

Frequent (30-79%)HP:0011197

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Hypoglycosylation of alpha-dystroglycan

Frequent (30-79%)HP:0030046

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypotonia, early

Frequent (30-79%)HP:0008947

Leukodystrophy

Frequent (30-79%)HP:0002415

Mental retardation, severe

Frequent (30-79%)HP:0010864

More grooves in brain

Frequent (30-79%)HP:0002126

Nonverbal

Frequent (30-79%)HP:0001344

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Breakdown of light-sensitive cells in back of eye

Occasional (5-29%)HP:0000556

Buphthalmos

Occasional (5-29%)HP:0000557

Cataract

Occasional (5-29%)HP:0000518

Severe myopia

Occasional (5-29%)HP:0011003

Related Conditions

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

Leucodystrophy(parent)

Congenital anomaly of brain(parent)

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital hereditary muscular dystrophy(parent)

Congenital anomaly of eye(parent)

Chronic brain syndrome(parent)

Multiple system malformation syndrome(parent)

Hereditary degenerative disease of central nervous system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 785298001
UMLS CUI: C5191414
Fully Specified Name: Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.