1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110595 | Stromme syndrome | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. |