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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
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
Related Glycoprotein
