1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070431 | hyperphosphatasia with impaired intellectual development syndrome | An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. |
