Version: 8.0.0
Date: Tue Jan 28 2025
primary autosomal recessive microcephaly 14
DOID:0070279
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary autosomal recessive microcephaly 14

Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
Synonyms
  • MCPH14
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated inprimary autosomal recessive microcephaly 14
  • IAGP
Rattus norvegicusis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Mus musculusis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Danio reriois implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
Drosophila melanogasteris implicated via orthologyprimary autosomal recessive microcephaly 14
  • IEA
MGI:6194238
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Associated Alleles

No data available

Associated Models

No data available