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microcephaly 8, 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 CEP135 gene.
Uniprot Description A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Disease Ontology Description A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
Mondo Term and Equivalent IDs
MONDO:0013849:  microcephaly 8, primary, autosomal recessive
UMLS:C3553414: