Overview
Chudley McCullough syndrome 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.
Dilated cerebral ventricle
Always present (100%)HP:0002119
Gray matter heterotopias
Always present (100%)HP:0002282
More grooves in brain
Always present (100%)HP:0002126
Partial or complete agenesis of corpus callosum
Always present (100%)HP:0001338
Severe sensorineural deafness
Always present (100%)HP:0008625
Cerebellar dysplasia
Very frequent (80-99%)HP:0007033
Fluid-filled sac located in membrane surrounding brain or spinal cord
Very frequent (80-99%)HP:0100702
Delayed motor milestones
Frequent (30-79%)HP:0001270
Mental retardation, mild
Frequent (30-79%)HP:0001256
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Seizures
Occasional (5-29%)HP:0001250
Dilation of foramen magnum
HP:0002700
Dysplasia of corpus callosum
HP:0006989
Hypoplasia of corpus callosum
HP:0002079
Small cerebellum
HP:0001321
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Hearing loss associated with syndrome(parent)
Hereditary disorder of nervous system(parent)
Dysgenesis of the cerebellum(parent)
Sensorineural hearing loss(parent)
Disorder of ear(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 773610007
- UMLS CUI
- C1858695
- Fully Specified Name
- Chudley McCullough syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.