X-linked recessive disease +
amino acid metabolic disorder +

2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
adenylosuccinase lyase deficiency
adrenoleukodystrophy
Aland Island eye disease
alkaptonuria
Allan-Herndon-Dudley syndrome
argininosuccinic aciduria
Barth syndrome
beta-ketothiolase deficiency
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
branched-chain keto acid dehydrogenase kinase deficiency
CD40 ligand deficiency
cerebral creatine deficiency syndrome +
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 oxidative phosphorylation deficiency 6
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital glutamine deficiency
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
cystathioninuria
cystinuria
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
Duchenne muscular dystrophy
ectodermal dysplasia 1
ectodermal dysplasia and immunodeficiency 1
factor VIII deficiency
familial hypertryptophanemia
Fanconi anemia complementation group B
FG syndrome
frontometaphyseal dysplasia 1
fumarase deficiency
Galloway-Mowat syndrome 2
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy +
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VIII
Hartnup disease
hawkinsinuria
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
Holoprosencephaly 13, X-linked
homocystinuria
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
HRPT-related hyperuricemia
hydroxykynureninuria
hyperhomocysteinemia
hyperlysinemia
hypermethioninemia +
hyperprolinemia +
hypervalinemia and hyperleucine-isoleucinemia
hypogonadotropic hypogonadism 1 with or without anosmia
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency 33
immunodeficiency 34
immunodeficiency 47
immunodeficiency 50
isolated growth hormone deficiency type III
Joubert syndrome 10
Keipert syndrome
Kennedy's disease
Lesch-Nyhan syndrome
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
MASA syndrome
megalocornea
MEHMO syndrome
MEND syndrome
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple carboxylase deficiency +
multiple congenital anomalies-hypotonia-seizures syndrome 2
nephrogenic syndrome of inappropriate antidiuresis
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
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
organic acidemia +
ornithine translocase deficiency
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
oxoglutarate dehydrogenase deficiency
Paganini-Miozzo syndrome
partial androgen insensitivity syndrome
Partington syndrome
Pelizaeus-Merzbacher disease
pentosuria
phenylketonuria
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Prieto syndrome
primary ovarian insufficiency 2B
prolidase deficiency
Renpenning syndrome
retinitis pigmentosa 23
Ritscher-Schinzel syndrome 2
sarcosinemia
serine deficiency +
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
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +
Van Esch-O'Driscoll syndrome
Waisman 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 spermatogenic failure 7
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