|
General Information
|
| Term |
syndromic X-linked intellectual disability 34 |
ID (Ontology) |
DOID:0060817 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. |
| Also Known As |
"macrocephaly-intellectual disability-left ventricular non compaction syndrome" ; "mental retardation, X-linked, syndromic 34" ; "MRXS34" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
syndromic X-linked intellectual disability 34 | 1 | 3 | 1 | for disease ribbon | syndromic X-linked intellectual disability 34 | -- | 2 | -- | model of | syndromic X-linked intellectual disability 34 | 1 | 2 | -- |
|
Relationships