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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6ZXV5 | Protein O-mannosyl-transferase TMTC3 |
- 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 |
