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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620448
http://purl.bioontology.org/ontology/OMIM/620448
|
|---|---|
| Preferred Name | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING |
| Synonyms |
MLC4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MLC4
|
|---|---|
| prefLabel | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING
|
| Gene Symbol |
AQP4
MIWC
MLC4
|
| Scope Statement | Normalization or improvement of brain imaging abnormalities with age [MISCELLANEOUS]
Two sibs (patients A and B) from 1 family have been reported (last curated July 2023) [MISCELLANEOUS]
Caused by mutation in the aquaporin 4 gene (AQP4, 600308.0001) [MOLECULAR BASIS]
Improvement of some behavioral and neurologic features with age [MISCELLANEOUS]
Normalization or improvement of head circumference with age [MISCELLANEOUS]
Patient A had severe epilepsy and a more severe phenotype [MISCELLANEOUS]
Onset of macrocephaly in infancy [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q11.2-q12.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620448
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830628
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |