1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081324 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060308 | autosomal recessive intellectual developmental disorder | A intellectual disability characterized by an autosomal recessive inheritance pattern. |
