Database of Pathogenic Variants
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Disease Detail
Disease Name
Microcephaly 5, primary, autosomal recessive
OMIM:608716
MedGen:C1837501
Associated Genes and Variants
ASPM
NM_018136.4:c.3055C>T
NM_018136.4:c.6750delT
NM_018136.5:c.10168C>T
NM_018136.5:c.7782_7783delGA
NM_018136.5:c.9742_9745delAAAC