| Term Name: | Alsahan-Harris syndrome |
|---|---|
| Synonyms: | ALHAS |
| Definition: | A ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. |
| Ontology: | Human Disease [DOID:0070787] ( DOID:0070787 ) |