Aliases: KIAA0042.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Meckel Syndrome | causative germline |
subtype: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
scoped to subtype: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
|
| Autosomal Recessive Primary Microcephaly |
untyped
Biallelic Pathogenic Variant
|
mechanism: Cytokinesis and Membrane-Trafficking Dysfunction; Heterogeneous Biallelic MCPH Gene Dysfunction
subtype: MCPH20
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.