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Human Disease

Alsahan-Harris syndrome

Term ID
DOID:0070787
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. (3)
References
Ontology
Human Disease   ( DOID:0070787 )
Relationships
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Genes Involved
Zebrafish Models