1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070279 | primary autosomal recessive microcephaly 14 | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070296 | primary autosomal recessive microcephaly | A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. |
