Female-Restricted Syndromic X-Linked Intellectual Disability 99
Disease ID: disease_node_13596
Connections displayed (default: 10).
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| Dbxref | GARD:13638, MIM:300968 |
|---|---|
| Subclassof | DOID_0060309, DOID_0080009 |
| Data Source | DOID |
| Synonyms | MRXS99F, X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, female-restricted syndromic X-linked mental retardation 99 |
| Doid Label | female-restricted syndromic X-linked intellectual disability 99 |
| Doid Description | A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_13596 |
| Doid Id | DOID_0112025 |
| Label | Female-Restricted Syndromic X-Linked Intellectual Disability 99 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)