LMNA
|
937
|
|
Proteus syndrome
|
AKT1
|
938
|
|
Pseudohypoparathyroidism type 1a
|
GNAS
|
939
|
|
Pyruvate dehydrogenase complex disorder
|
PDHA1
|
940
|
|
Retinitis pigmentosa
|
RPGR
|
941
|
|
Retinoblastoma
|
RB1
|
942
|
|
Rett syndrome in males
|
MECP2
|
943
|
|
Rett syndrome, atypical
|
CDKL5
|
944
|
|
Rubinstein–Taybi syndrome
|
CREBBP
|
945
,
946
|
|
Shprintzen–Goldberg syndrome
|
SKI
|
947
|
|
Sotos syndrome
|
NSD1
|
948
|
|
Spondyloperipheral dysplasia
|
COL2A1
|
949
|
|
Stickler syndrome
|
COL2A1
|
896
|
|
Subcortical band heterotopia and pachygyria
|
LIS1
|
950
|
|
Testicular dysgenesis syndrome
|
SRY
|
951
|
|
Thanatophoric dysplasia
|
FGFR3
|
888
|
|
Timothy syndrome type 1
|
CACNA1C
|
952
|
|
Townes–Brock syndrome
|
SALL1
|
888
|
|
Uniparental disomies
|
–
|
953
|
|
Von Hippel–Lindau
|
VHL
|
888
|
|
Wiskott–Aldrich syndrome
|
WASP
|
954
|
|
X‐linked anhidrotic ectodermal dysplasia with immunodeficiency
|
NEMO
|
955
|
|
X‐linked chronic granulomatous disease
|
CYBB
|
956
|
|
X‐linked craniofrontonasal syndrome
|
EFNB1
|
957
|
|
X‐linked creatine deficiency
|
SLC6A8
|
958
|
|
X‐linked Danon disease
|
LAMP2
|
959
|
|
X‐linked dilated cardiomyopathy
|
DMD
|
960
|
|
X‐linked dyskeratosis congenita
|
DKC1
|
888
|
|
X‐linked focal dermal hypoplasia
|
PORCN
|
961
,
962
|
|
X‐linked hypophosphatemia
|
PHEX
|
888
|
|
X‐linked incontinentia pigmenti
|
NEMO
|
963
|
|
X‐linked Menkes disease
|
ATP7A
|
964
|
|
X‐linked mental retardation
|
ARX
|
888
|
|
X‐linked osteopathia striata with cranial sclerosis and developmental delay
|
WTX
|
965
|
|
X‐linked periventricular nodular heterotopia
|
FLNA
|
966
|
|
X‐linked protoporphyria
|
XLDPP
|
967
|
|
X‐linked subcortical band heterotopia
|
DCX
|
|
