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Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
disorderSNOMED 1254650002CUI C4225352
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Mental retardation, severe
Always present (100%)HP:0010864
Poor school performance
Very frequent (80-99%)HP:0001249
Seizures
Very frequent (80-99%)HP:0001250
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
CVI
Frequent (30-79%)HP:0100704
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed CNS myelination
Frequent (30-79%)HP:0002188
Delayed gross motor development
Frequent (30-79%)HP:0002194
Delayed myelination
Frequent (30-79%)HP:0012448
Difficulty speaking
Frequent (30-79%)HP:0002465
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Inability to walk
Frequent (30-79%)HP:0002540
Increased distance between eyes
Frequent (30-79%)HP:0000316
Laterally displaced fifth finger
Frequent (30-79%)HP:0009179
Mental and motor retardation
Frequent (30-79%)HP:0001263
Muscular hypotonia
Frequent (30-79%)HP:0001252
No speech development
Frequent (30-79%)HP:0001344
Plagiocephaly
Frequent (30-79%)HP:0001357
Poor vision
Frequent (30-79%)HP:0000505
Slack jawed appearance
Frequent (30-79%)HP:0000194
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormal hair whorl
Occasional (5-29%)HP:0010721
Absent vagina
Occasional (5-29%)HP:0003250
Broad big toe
Occasional (5-29%)HP:0010055
Chronic constipation
Occasional (5-29%)HP:0012450
Double ring sign
Occasional (5-29%)HP:0000609
Eye disease
Occasional (5-29%)HP:0000478
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital malformation of corpus callosum(parent)
Developmental delay(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 1254650002
- UMLS CUI
- C4225352
- Fully Specified Name
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (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.