In the knowledge base ยท computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere 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.