Leukoencephalopathy, cystic, without megalencephaly

Preferred Label : Leukoencephalopathy, cystic, without megalencephaly;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribonuclease T2 gene (RNASET2, 612944.0001).;

Laboratory abnormalities : No evidence of perinatal infection;

Prefixed ID : #612951;

Details

Origin ID

612951;

UMLS CUI

C2751843;

Currated CISMeF NLP mapping
- Cystic leukoencephalopathy without megalencephaly [ICD-11 More detail]
- Cystic leukoencephalopathy without megalencephaly [ORDO Disease]
- Cystic leukoencephalopathy without megalencephaly (disorder) [SNOMED CT concept]
- RNASET2-deficient cystic leukoencephalopathy [DO Concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH Supplementary Concept]
Genes related to phenotype
- Ribonuclease t2 [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Abnormal myelination [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral calcification [HPO term]
- Delayed speech and language development [HPO term]
- Doll-like facies [HPO term]
- Dystonia [HPO term]
- Focal white matter lesions [HPO term]
- Infantile onset [HPO term]
- Leukoencephalopathy [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe global developmental delay [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Cystic leukoencephalopathy without megalencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystic leukoencephalopathy without megalencephaly [ORDO Disease]
- Cystic leukoencephalopathy without megalencephaly (disorder) [SNOMED CT concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH Supplementary Concept]
- leukoencephalopathy, cystic, without megalencephaly [MeSH concept]

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