Presentation
Entire Body System
- Lymphedema
INHERITANCE* % GENE COVERAGE (20X) HGMD** ACTB Baraitser-Winter Syndrome, Juvenile-Onset Dystonia, Developmental Malformations- Deafness-Dystonia Syndrome AD 100 40 of 40 ACTG1 Baraitser-Winter Syndrome AD 98.59 55 of 55 ADAMTS3 Hennekam Lymphangiectasia- Lymphedema [igenomix.es]
Musculoskeletal
- Muscle Cramp
Cramps, Autosomal Dominant Pontine Microangiopathy And Leukoenceph- alopathy, Hanac Syndrome, Walker-Warburg Syndrome AD 99.99 173 of 173 COPB2 Autosomal Recessive Primary Microcephaly AR 99.64 4 of 4 CPT2 Carnitine Palmitoyltransferase II Deficiency [igenomix.es]