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lissencephaly 8
Summary
- Synonym
-
- LIS8
- Definition
- A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
- Super Class
- autosomal recessive disease lissencephaly
External Links
- Disease Ontology
- DOID:0112233
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100145573 | tmtc3 | transmembrane and tetratricopeptide repeat containing 3 | Xenopus tropicalis (tropical clawed frog) | |
| 108711051 | tmtc3.L | transmembrane and tetratricopeptide repeat containing 3 L homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002119 | Ventriculomegaly |
| HP:0001249 | Intellectual disability |
| HP:0006951 | Retrocerebellar cyst |
| HP:0000568 | Microphthalmia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0012434 | Delayed early-childhood social milestone development |
| HP:0001344 | Absent speech |
| HP:0000252 | Microcephaly |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0003593 | Infantile onset |
