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microcephaly 14, primary, autosomal recessive

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.
Uniprot Description A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Disease Ontology Description A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
Mondo Term and Equivalent IDs
MONDO:0014623:  microcephaly 14, primary, autosomal recessive
UMLS:C4225338: