Closed csbjohnson closed 11 months ago
New digenic diseases to be added:
✔️ LONG QT SYNDROME 2; LQT2 ✔️ ✔️ LONG QT SYNDROME 3; LQT3 ✔️ ✔️ LONG QT SYNDROME 1 ✔️ ✔️ DEAFNESS, AUTOSOMAL RECESSIVE 1A; ✔️: Same as 0110475? ✔️ LONG QT SYNDROME 6; LQT6 ✔️ ✔️LONG QT SYNDROME 5; LQT5 ✔️ ✔️LONG QT SYNDROME 9; LQT9 ✔️ ✔️JOUBERT SYNDROME 15; JBTS15 ✔️ ✔️ ACROCALLOSAL SYNDROME; ACLS ✔️
✔️ PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 ✔️ ✔️ JOUBERT SYNDROME 9; JBTS9 ✔️ ✔️ SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 ✔️ ✔️ RETINITIS PIGMENTOSA 7; RP7 ✔️ ✔️ DYSKERATOSIS CONGENITA, DIGENIC; DKCD ✔️ ✔️ WAARDENBURG SYNDROME, TYPE 2A; WS2A ✔️ ✔️ ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ✔️
New digenic diseases to be added:
✔️ LONG QT SYNDROME 2; LQT2 ✔️ ✔️ LONG QT SYNDROME 3; LQT3 ✔️ ✔️ LONG QT SYNDROME 1 ✔️ ✔️ DEAFNESS, AUTOSOMAL RECESSIVE 1A; ✔️: Same as 0110475? ✔️ LONG QT SYNDROME 6; LQT6 ✔️ ✔️LONG QT SYNDROME 5; LQT5 ✔️ ✔️LONG QT SYNDROME 9; LQT9 ✔️ ✔️JOUBERT SYNDROME 15; JBTS15 ✔️ ✔️ ACROCALLOSAL SYNDROME; ACLS ✔️
✔️ PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 ✔️ ✔️ JOUBERT SYNDROME 9; JBTS9 ✔️ ✔️ SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 ✔️ ✔️ RETINITIS PIGMENTOSA 7; RP7 ✔️ ✔️ DYSKERATOSIS CONGENITA, DIGENIC; DKCD ✔️ ✔️ WAARDENBURG SYNDROME, TYPE 2A; WS2A ✔️ ✔️ ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ✔️