P189-CDKL5
Rett syndrome, atypical
|
P072-MSH6
Hereditary nonpolyposis colon cancer (HNPCC)
|
P061-Lissencephaly
Lissencephaly
|
P069-Human Telomere-4
Broad subtelomeric screening
|
P015-MECP2
RETT syndrome
|
P064-MR-1
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
P237-DNAI1
Primary ciliary dyskinesia (PCD)
|
P313-CREBBP
Rubinstein–Taybi syndrome (RSTS)
|
P218-LPL
LPL deficiency
|
P205-SH2D1A-XIAP-ITK
Lymphoproliferative syndrome
|
P169-Hirschsprung-1
Hirschsprung disease, or Aganglionic Megacolon
|
P226-SDH
Paragangliomas (PGL)
|