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lateral meningocele syndrome
Summary
- Synonym
-
- Lehman syndrome
- Definition
- A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111343
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1312 | COMT | catechol-O-methyltransferase | |
| 1462 | VCAN | versican | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
Related Glycoprotein
