Agenesis of corpus callosum with polyneuropathy

disorder

SNOMED 702439002CUI C0795950

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.

Decreased nerve conduction velocity

Always present (100%)HP:0000762

Elevated csf protein

Always present (100%)HP:0002922

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Interictal epileptiform activity

Very frequent (80-99%)HP:0011182

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Paralysis or weakness of one side of body

Very frequent (80-99%)HP:0004374

Seizures

Very frequent (80-99%)HP:0001250

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Aqueductal stenosis

Frequent (30-79%)HP:0002410

Bilateral facial weakness

Frequent (30-79%)HP:0001349

Diffuse white matter abnormalities

Frequent (30-79%)HP:0007204

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Esotropia

Frequent (30-79%)HP:0000565

Eye drop

Frequent (30-79%)HP:0000508

Feeding difficulties

Frequent (30-79%)HP:0011968

High arched palate

Frequent (30-79%)HP:0000218

Inability to walk

Frequent (30-79%)HP:0002540

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Mental retardation, mild

Frequent (30-79%)HP:0001256

Nonverbal

Frequent (30-79%)HP:0001344

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Small nose

Frequent (30-79%)HP:0003196

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Abnormality of RPE

Occasional (5-29%)HP:0007703

Craniosyostosis

Occasional (5-29%)HP:0001363

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Related Conditions

Hereditary motor and sensory neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Agenesis of corpus callosum(parent)

Quick Facts

SNOMED CT: 702439002
UMLS CUI: C0795950
Fully Specified Name: Agenesis of corpus callosum with peripheral neuropathy (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.