Neurofibromatosis type 2
|
NF2
|
930
|
|
Ohtahara syndrome
|
STXBP1
|
931
|
|
Ollier disease
|
IDHI
|
924
|
|
Ornithine transcarbamylase deficiency
|
OTC
|
888
|
|
Osteochondromas
|
EXT
|
932
|
|
Osteogenesis imperfecta II
|
COL1A1, COL1A2
|
888
|
|
Osteopathia striata
|
AMER1
|
933
|
|
Otopalatodigital syndrome
|
FLNA
|
888
|
|
Paroxsysmal nocturnal hemoglobinuria
|
PIGA
|
888
|
|
Phenylketonuria
|
PAH
|
888
|
|
Pheochromocytomas and hemihyperplasia
|
UPD 11p15
|
934
|
|
Pitt–Hopkins syndrome
|
TCF4
|
935
|
|
Polycythemia–paraganglioma syndrome
|
HIF2A
|
936
|
|
Progeria
|
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
|
