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Microcephaly, thin corpus callosum, intellectual disability syndrome
disorderSNOMED 770721009CUI C4749429
Overview
Microcephaly, thin corpus callosum, intellectual disability 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.
Corticospinal signs
Frequent (30-79%)HP:0007256
Delayed myelination
Frequent (30-79%)HP:0012448
Extensor plantar responses
Frequent (30-79%)HP:0003487
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased reflexes
Frequent (30-79%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Mental and motor retardation
Frequent (30-79%)HP:0001263
No speech development
Frequent (30-79%)HP:0001344
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Postnatal microcephaly
Frequent (30-79%)HP:0005484
Problems speaking
Frequent (30-79%)HP:0002465
Abnormality of RPE
Occasional (5-29%)HP:0007703
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Degeneration of cerebrum
Occasional (5-29%)HP:0002059
Foot deformity
Occasional (5-29%)HP:0001760
Horizontal nystagmus
Occasional (5-29%)HP:0000666
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Outward facing eye ball
Occasional (5-29%)HP:0000577
Quick Facts
- SNOMED CT
- 770721009
- UMLS CUI
- C4749429
- Fully Specified Name
- Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.