WormBase Tree Display for DO_term: DOID:0060807
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| DOID:0060807 | Name | syndromic X-linked intellectual disability Najm type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MICPCH | |||
| X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome | |||||
| mental retardation and microcephaly with pontine and cerebellar hypoplasia | |||||
| Parent | Is_a | DOID:0060309 | |||
| DB_info | Database | OMIM | disease | 300749 | |
| Attribute_of | Gene_by_orthology | WBGene00002991 |
