loading...| Preferred Name |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 |
| Synonyms |
LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS |
| ID |
http://purl.bioontology.org/ontology/OMIM/604004 |
| altLabel |
LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS VL VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 LVM VAN DER KNAAP DISEASE |
| cui |
C1858854 |
| Gene Locus |
22q13.33 |
| Gene Symbol |
VL MLC1 LVM |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU004934 http://purl.bioontology.org/ontology/OMIM/MTHU004936 http://purl.bioontology.org/ontology/OMIM/MTHU004938 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU004939 http://purl.bioontology.org/ontology/OMIM/MTHU004937 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
604004 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 |
| Scope Statement |
Slow course of functional deterioration compared to severity of MRI findings [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the MLC1 gene (MLC1, 605908.0001) [MOLECULAR BASIS] |
| tui |
T019 |