SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)
| Code | 1300198006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20240201 |
93040009Congenital blepharophimosis
disorder
1362108000Genetic intellectual disability
disorder
224958001Global developmental delay
disorder
65094009Multiple malformation syndrome with facial defects as major feature
disorder
1137472008Neurodevelopmental delay
disorder
None (leaf concept).