loading...| Preferred Name |
Megalencephalic leukoencephalopathy with subcortical cysts |
| Synonyms |
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts |
| ID |
http://purl.bioontology.org/ontology/MESH/C536141 |
| altLabel |
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vacuolating Leukoencephalopathy Van Der Knapp Disease Leukoencephalopathy with swelling and cysts Infantile Leukoencephalopathy and Megalencephaly Leukoencephalopathy with Swelling and A Discrepantly Mild Course Megalencephaly-cystic leukodystrophy |
| cui |
C1858854 |
| HM |
D020279 D003560 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
80 |
| MMR |
20150818 |
| notation |
C536141 |
| prefLabel |
Megalencephalic leukoencephalopathy with subcortical cysts |
| SC |
3 |
| Scope Statement |
A heriditary autosomal recessive leukodystrophy characterized by early-onset MEGALENCEPHALY and delayed-onset neurologic deterioration, including CEREBELLAR ATAXIA; MUSCLE SPASTICITY; EPILEPSY, and mild DEMENTIA. Mutations in the MLC1 gene have been identified. OMIM: 604004 |
| TERMUI |
T738376 T738381 T841987 T841985 T738380 T841986 T738378 T841988 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |