X-linked recessive disease +
physical disorder +
brain disease +

adrenoleukodystrophy
agnathia-otocephaly complex
akinetic mutism
Aland Island eye disease
Allan-Herndon-Dudley syndrome
alveolar echinococcosis
arthrogryposis multiplex congenita +
Athabaskan brainstem dysgenesis syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
Barth syndrome
basal ganglia disease +
baylisascariasis
bladder exstrophy-epispadias-cloacal exstrophy complex +
blepharophimosis
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
brain cancer +
brain compression
brain edema
brain small vessel disease +
Brunner Syndrome
caudal regression syndrome
CD40 ligand deficiency
central nervous system origin vertigo
cerebellar disease +
cerebral degeneration +
cerebral palsy +
cerebritis
cerebrovascular disease +
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
cleft palate-lateral synechia syndrome
combined oxidative phosphorylation deficiency 6
complex cortical dysplasia with other brain malformations +
Compton-North congenital myopathy
congenital adrenal hyperplasia
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia
congenital aphakia
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital diarrhea +
congenital disorder of glycosylation +
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart block
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital megabladder
congenital mesoblastic nephroma +
congenital mirror movement disorder
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital myopathy 4A +
congenital nervous system abnormality +
congenital nongoitrous hypothyroidism 9
congenital nystagmus +
congenital ptosis
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness +
congenital stationary night blindness 1A
congenital stationary night blindness 2A
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
congenital syphilis +
congenital toxoplasmosis
congenital vertical talus
cortical dysplasia-focal epilepsy syndrome
cryptophthalmia +
cystic echinococcosis
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
developmental cardiac valvular defect
diabetic encephalopathy
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy
Eastern equine encephalitis
ectodermal dysplasia 1
ectodermal dysplasia and immunodeficiency 1
encephalitis +
encephalomalacia +
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
epilepsy +
factor VIII deficiency
familial febrile seizures +
Fanconi anemia complementation group B
FG syndrome
frontometaphyseal dysplasia 1
frontotemporal dementia +
Galloway-Mowat syndrome 2
gastroschisis
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VIII
granulomatous amebic encephalitis
hemophilia B
hepatic encephalopathy +
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
heterophyiasis
homocarnosinosis
HRPT-related hyperuricemia
hypoglycemic coma
hypogonadotropic hypogonadism 1 with or without anosmia
hypospadias
hypothalamic disease +
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency 33
immunodeficiency 34
immunodeficiency 47
immunodeficiency 50
imperforate anus
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
intracranial hypertension +
intracranial hypotension
isolated growth hormone deficiency type III
Japanese encephalitis
Joubert syndrome +
Joubert syndrome 10
Keipert syndrome
Kennedy's disease
kernicterus
Klippel-Feil syndrome +
La Crosse encephalitis
large congenital melanocytic nevus
laryngomalacia
Leber congenital amaurosis +
Lesch-Nyhan syndrome
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
low grade glioma +
lymphocytic choriomeningitis
MASA syndrome
Meckel's diverticulum
megalocornea
MEHMO syndrome
MEND syndrome
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
migraine +
movement disease +
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 2
Murray Valley encephalitis
myotonia congenita +
neonatal diabetes mellitus with congenital hypothyroidism
nephrogenic syndrome of inappropriate antidiuresis
neural tube defect +
neuroschistosomiasis
non-congenital cyst of kidney
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
nonsyndromic congenital nail disorder +
Norrie disease
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
occipital horn syndrome
oculocerebrorenal syndrome
omphalocele
Opitz GBBB syndrome
orofacial cleft +
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
Paganini-Miozzo syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
paragonimiasis
partial androgen insensitivity syndrome
Partington syndrome
PEHO syndrome
Pelizaeus-Merzbacher disease
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Poland syndrome
polydactyly
polymicrogyria +
porencephaly
Prieto syndrome
primary congenital glaucoma +
primary ovarian insufficiency 2B
prion disease +
pseudobulbar palsy
radioulnar synostosis
rapidly involuting congenital hemangioma
renal-hepatic-pancreatic dysplasia
Renpenning syndrome
retinitis pigmentosa 23
Ritscher-Schinzel syndrome 2
severe congenital neutropenia +
Shukla-Vernon syndrome
sideroblastic anemia 1
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
sparganosis
spastic paraplegia with deafness
spondyloepiphyseal dysplasia with congenital joint dislocations
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 immunodeficiency, congenital alopecia, and nail dystrophy
tertiary neurosyphilis +
thalamic disease
TORCH syndrome
toxocariasis
traumatic brain injury
Van Esch-O'Driscoll syndrome
visceral heterotaxy +
Waisman syndrome
Wernicke encephalopathy
West Nile encephalitis +
Western equine encephalitis
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
Zika virus congenital syndrome