| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An X-linked disease characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (Human Disease Ontology, DOID_0060246) |
| External Link | http://www.omim.org/entry/303350 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the masa syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| L1CAM | L1 cell adhesion molecule |
