Autosomal recessive primary microcephaly (MCPH) is characterized by: congenital microcephaly (3 SD below the mean at birth or at least 4 SD below the mean at later ages) mental retardation, but no other neurological findings (febrile or other mild seizures do not exclude the diagnosis) normal or mildly short stature that is less severe than the markedly small head circumference normal weight and appearance except for the microcephaly Mutations in the ASPM [OMIM #605481] gene are the most common cause of MCPH. Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of MCPH have mutations in ASPM. Deletions and/or duplications of the ASPM gene as causative of microcephaly have been reported. Contact The Foundation for Children with Microcephaly (www.childrenwithmicro.org) for more information and support
Specimen Types Accepted
If sending saliva, 2 kits are required.