Overview
CIMDAG 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.
Decreased size of cranium
Always present (100%)HP:0000252
Delayed motor milestones
Always present (100%)HP:0001270
Impaired vision
Always present (100%)HP:0000505
Mental retardation, severe
Always present (100%)HP:0010864
Severe psychomotor retardation
Always present (100%)HP:0011344
Speech and language difficulties
Always present (100%)HP:0000750
Trouble sleeping
Always present (100%)HP:0002360
Congenital cataracts, bilateral
Very frequent (80-99%)HP:0000519
Dystonic movements
Very frequent (80-99%)HP:0001332
Enlarged liver
Very frequent (80-99%)HP:0002240
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Ataxia
Frequent (30-79%)HP:0001251
Breakdown of light-sensitive cells in back of eye
Frequent (30-79%)HP:0000556
Feeding difficulties
Frequent (30-79%)HP:0011968
No speech development
Frequent (30-79%)HP:0001344
Seizures
Frequent (30-79%)HP:0001250
Sensorineural deafness
Frequent (30-79%)HP:0000407
Small cerebellum
Frequent (30-79%)HP:0001321
Small skull present at birth
Frequent (30-79%)HP:0011451
Staphyloma
Frequent (30-79%)HP:0030854
Thinning of the corpus callosum
Frequent (30-79%)HP:0033725
Visual fixation instability
Frequent (30-79%)HP:0025405
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Choreiform movements
Occasional (5-29%)HP:0002072
Decreased activity of gonads
Occasional (5-29%)HP:0000135
Degeneration of cerebrum
Occasional (5-29%)HP:0002059
Gallstones
Occasional (5-29%)HP:0001081
Inability to make and keep healthy fat tissue
Occasional (5-29%)HP:0009125
Microvesicular steatosis
Occasional (5-29%)HP:0001414
Quick Facts
- SNOMED CT
- 1332508004
- UMLS CUI
- C5543287
- Fully Specified Name
- Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation 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.