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 )

Relationships
is a type of: autosomal recessive disease ciliopathy