1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070280 | primary autosomal recessive microcephaly 5 | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |