Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal deposits of calcium in the brain
Always present (100%)HP:0002514
Leukoencephalopathy
Always present (100%)HP:0002352
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Dystrophic nails
Frequent (30-79%)HP:0008404
Gastrointestinal telangiectasia
Frequent (30-79%)HP:0002604
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Pathologic fracture
Frequent (30-79%)HP:0002756
Dermal translucency
Occasional (5-29%)HP:0010648
Fine hair
Occasional (5-29%)HP:0002213
Hypoplastic bone marrow
Occasional (5-29%)HP:0005528
Low platelet count
Occasional (5-29%)HP:0001873
Oral white plaque
Occasional (5-29%)HP:0002745
Premature graying of the hair
Occasional (5-29%)HP:0002216
Pulmonary fibrosis
Occasional (5-29%)HP:0002206
Ataxia
HP:0001251
Blindness
HP:0000618
Bowed long bones
HP:0006487
Cobb angle greater than ten degrees
HP:0002650
Corticospinal signs
HP:0007256
Decreased body height
HP:0004322
Difficulty articulating speech
HP:0001260
Dystonic movements
HP:0001332
Extrapyramidal dysfunction
HP:0002071
Genu valga
HP:0002857
Growth delay as children
HP:0008897
Hypoplastic femoral neck
HP:0100864
Increased bone density in wide portion of long bone
HP:0004979
Increased susceptibility to fractures
HP:0002659
Intellectual deterioration
HP:0001268
Intestinal bleeding
HP:0002584
Quick Facts
- SNOMED CT
- 711482008
- UMLS CUI
- C2677299
- Fully Specified Name
- Cerebroretinal microangiopathy with calcifications and cysts (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.