congenital disorder of glycosylation type II +
X-linked recessive disease +
primary immunodeficiency disease +

adrenoleukodystrophy
Aland Island eye disease
Allan-Herndon-Dudley syndrome
autoimmune disease +
autosomal dominant familial periodic fever
B cell deficiency +
Barth syndrome
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
Brunner Syndrome
CD40 ligand deficiency
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
CK syndrome
combined immunodeficiency +
combined oxidative phosphorylation deficiency 6
complement deficiency +
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIm
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
dendritic cell deficiency +
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy
ectodermal dysplasia 1
ectodermal dysplasia and immune deficiency +
ectodermal dysplasia and immunodeficiency 1
epidermodysplasia verruciformis
factor VIII deficiency
familial Behcet-like autoinflammatory syndrome
familial cold autoinflammatory syndrome +
Fanconi anemia complementation group B
FG syndrome
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VIII
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency 18
immunodeficiency 20
immunodeficiency 21
immunodeficiency 27A
immunodeficiency 27B
immunodeficiency 28
immunodeficiency 29
immunodeficiency 31A
immunodeficiency 31B
immunodeficiency 31C
immunodeficiency 33
immunodeficiency 34
immunodeficiency 35
immunodeficiency 38
immunodeficiency 39
immunodeficiency 42
immunodeficiency 43
immunodeficiency 44
immunodeficiency 45
immunodeficiency 50
immunodeficiency 51
immunodeficiency 57
immunodeficiency 65
immunodeficiency 66
isolated growth hormone deficiency type III
Joubert syndrome 10
Keipert syndrome
Kennedy's disease
Lesch-Nyhan syndrome
lymphoproliferative syndrome +
MASA syndrome
megalocornea
MEHMO syndrome
MEND syndrome
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
multiple congenital anomalies-hypotonia-seizures syndrome 2
nephrogenic syndrome of inappropriate antidiuresis
NK cell deficiency +
non-syndromic X-linked intellectual disability 100
non-syndromic X-linked intellectual disability 101
non-syndromic X-linked intellectual disability 103
non-syndromic X-linked intellectual disability 104
non-syndromic X-linked intellectual disability 105
non-syndromic X-linked intellectual disability 21
non-syndromic X-linked intellectual disability 30
non-syndromic X-linked intellectual disability 46
non-syndromic X-linked intellectual disability 53
non-syndromic X-linked intellectual disability 58
non-syndromic X-linked intellectual disability 72
non-syndromic X-linked intellectual disability 73
non-syndromic X-linked intellectual disability 77
non-syndromic X-linked intellectual disability 81
non-syndromic X-linked intellectual disability 82
non-syndromic X-linked intellectual disability 84
non-syndromic X-linked intellectual disability 9
non-syndromic X-linked intellectual disability 90
non-syndromic X-linked intellectual disability 92
non-syndromic X-linked intellectual disability 93
non-syndromic X-linked intellectual disability 96
non-syndromic X-linked intellectual disability 99
non-syndromic X-linked intellectual disability ARX-related
Norrie disease
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
occipital horn syndrome
oculocerebrorenal syndrome
Opitz GBBB syndrome
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
Paganini-Miozzo syndrome
partial androgen insensitivity syndrome
Partington syndrome
Pelizaeus-Merzbacher disease
phagocyte bactericidal dysfunction +
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Prieto syndrome
primary ovarian insufficiency 2B
Renpenning syndrome
retinitis pigmentosa 23
Ritscher-Schinzel syndrome 2
severe congenital encephalopathy due to MECP2 mutation
Shukla-Vernon syndrome
sideroblastic anemia 1
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
spastic paraplegia with deafness
syndactyly type 8
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked mental retardation 35
T cell and NK cell immunodeficiency +
T cell deficiency +
Van Esch-O'Driscoll syndrome
Waisman syndrome
WHIM syndrome
Wilson-Turner syndrome
Wiskott-Aldrich syndrome
X-linked Aarskog syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked atrophic macular degeneration
X-linked chondrodysplasia punctata 1
X-linked chronic granulomatous disease
X-linked chronic idiopathic intestinal pseudo-obstruction
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked deafness 5
X-linked distal spinal muscular atrophy 3
X-linked dyserythropoietic anemia
X-linked dyskeratosis congenita
X-linked dystonia-parkinsonism
X-linked Emery-Dreifuss muscular dystrophy 1
X-linked Emery-Dreifuss muscular dystrophy 6
X-linked hyper IgM syndrome
X-linked ichthyosis
X-Linked immunodeficiency 74
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked intellectual developmental disorder 108
X-linked intellectual developmental disorder 109
X-linked intellectual disability-short stature-overweight syndrome
X-linked juvenile retinoschisis 1
X-linked keratosis follicularis spinulosa decalvans
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
X-linked myopathy with excessive autophagy
X-linked nephrogenic diabetes insipidus
X-linked nephrolithiasis type I
X-linked parkinsonism-spasticity syndrome
X-linked properdin deficiency
X-linked recessive hypophosphatemic rickets
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia with ataxia
X-linked spermatogenic failure 2
X-linked spermatogenic failure 3
X-linked spinal muscular atrophy 2
X-linked spinocerebellar ataxia 1
X-linked spinocerebellar ataxia 5
X-linked spondyloepimetaphyseal dysplasia
X-linked spondyloepiphyseal dysplasia tarda
X-linked thrombocytopenia with beta-thalassemia
X-linked VACTERL association