WormBase Tree Display for DO_term: DOID:0111843
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| DOID:0111843 | Name | Paganini-Miozzo syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. | ||||
| Synonym | Exact | MRXSPM | |||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 301025 | |
| Attribute_of | Gene_by_orthology | WBGene00002031 |
