Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfu…

AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more

~Estimated

~$10 – $675

National Human Genome Research Institute (NHGRI)NCT06092346

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+184 more

~Estimated

~$10 – $1,125

Simons SearchlightNCT01238250