loading...| Preferred Name | LISSENCEPHALY, X-LINKED, 1 | |
| Synonyms |
XLIS DOUBLE CORTEX SYNDROME DC SYNDROME SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL BAND HETEROTOPIA, X-LINKED SBH LISX1 SCLH |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300067 |
|
| altLabel |
XLIS DOUBLE CORTEX SYNDROME DC SYNDROME SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL BAND HETEROTOPIA, X-LINKED SBH LISX1 SCLH |
|
| cui |
C1848200 C4551968 C1848070 C1848201 |
|
| Gene Locus |
Xq22.3-q23 |
|
| Gene Symbol |
DCX DBCN LISX |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU025656 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU036336 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU037675 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU025657 http://purl.bioontology.org/ontology/OMIM/MTHU028728 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU022860 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU004222 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
600102 |
|
| notation |
300067 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LISSENCEPHALY, X-LINKED, 1 |
|
| Scope Statement |
Caused by mutation in the doublecortin gene (DCX, 300121.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Somatic or germline mosaicism may occur [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Highly variable phenotype in females [MISCELLANEOUS] |
|
| tui |
T047 |