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Repository for lectin-assisted multimodality data
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MIRAGE
syndromic X-linked intellectual disability Najm type
Summary
- Synonym
-
- MICPCH
- X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
- mental retardation and microcephaly with pontine and cerebellar hypoplasia
- Definition
- A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060807
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14936 | Peripheral plasma membrane protein CASK |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P29295 | Casein kinase I homolog HRR25 |
