1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070542 | neurodevelopmental disorder with spastic paraplegia and microcephaly | An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060308 | autosomal recessive intellectual developmental disorder | A intellectual disability characterized by an autosomal recessive inheritance pattern. |
