|
CFAP74
(HGNC:29368)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
DMXL2
(HGNC:2938)
|
developmental and epileptic encephalopathy, 81
(MONDO_0032858)
|
Limited
|
|
|
ASXL3
(HGNC:29357)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
DMRT1
(HGNC:2934)
|
46,XY disorder of sex development
(MONDO_0020040)
|
Limited
|
|
|
DMP1
(HGNC:2932)
|
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
|
Strong
|
|
|
UVSSA
(HGNC:29304)
|
UV-sensitive syndrome
(MONDO_0015797)
|
Strong
|
|
|
SLC7A14
(HGNC:29326)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
CEP152
(HGNC:29298)
|
Seckel syndrome
(MONDO_0019342)
|
Moderate
|
|
|
CEP152
(HGNC:29298)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
DMD
(HGNC:2928)
|
progressive muscular dystrophy
(MONDO_0016106)
|
Limited
|
|
|
DMD
(HGNC:2928)
|
Duchenne muscular dystrophy
(MONDO_0010679)
|
Definitive
|
|
|
DMD
(HGNC:2928)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
DMD
(HGNC:2928)
|
dilated cardiomyopathy 3B
(MONDO_0010542)
|
Strong
|
|
|
DMD
(HGNC:2928)
|
Becker muscular dystrophy
(MONDO_0010311)
|
Definitive
|
|
|
IFT80
(HGNC:29262)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
IFT80
(HGNC:29262)
|
Beemer-Langer syndrome
(MONDO_0010024)
|
Limited
|
|
|
CC2D2A
(HGNC:29253)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
USP53
(HGNC:29255)
|
cholestasis
(MONDO_0001751)
|
Strong
|
|
|
CC2D2A
(HGNC:29253)
|
Joubert syndrome 9
(MONDO_0012849)
|
Moderate
|
|
|
WDR35
(HGNC:29250)
|
short-rib thoracic dysplasia 7 with or without polydactyly
(MONDO_0013569)
|
Moderate
|
|