Syndromic X-Linked Intellectual Disability Najm Type
Disease ID: disease_node_13615
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| Dbxref | GARD:12669, ICD10CM:Q04.3, MIM:300749, ORDO:163937 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| Doid Label | syndromic X-linked intellectual disability Najm type |
| Doid Description | 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. |
| Disease Node Id | disease_node_13615 |
| Doid Id | DOID_0060807 |
| Label | Syndromic X-Linked Intellectual Disability Najm Type |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)