X-Linked Mental Retardation-Hypotonic Facies Syndrome-1
Disease ID: disease_node_13600
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| Subclassof | DOID_0060309 |
|---|---|
| Data Source | DOID |
| Doid Label | X-linked mental retardation-hypotonic facies syndrome-1 |
| Doid Description | A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. |
| Disease Node Id | disease_node_13600 |
| Doid Id | DOID_0080982 |
| Label | X-Linked Mental Retardation-Hypotonic Facies Syndrome-1 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)