X-linked monogenic disease +
physical disorder +
male infertility +

46,XY sex reversal 2
Abruzzo-Erickson syndrome
agnathia-otocephaly complex
arthrogryposis multiplex congenita +
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
azoospermia
bladder exstrophy-epispadias-cloacal exstrophy complex +
blepharophimosis
cataract 40
caudal regression syndrome
cleft palate-lateral synechia syndrome
Compton-North congenital myopathy
congenital adrenal hyperplasia
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia
congenital aphakia
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital diarrhea +
congenital disorder of glycosylation +
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 nystagmus +
congenital ptosis
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
congenital syphilis +
congenital toxoplasmosis
congenital vertical talus
corpus callosum agenesis-abnormal genitalia syndrome
cryptophthalmia +
developmental and epileptic encephalopathy 90
developmental cardiac valvular defect
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
fetal akinesia deformation sequence syndrome X-linked
gastroschisis
hypospadias
imperforate anus
infertility due to extratesticular cause
Klippel-Feil syndrome +
large congenital melanocytic nevus
laryngomalacia
Leber congenital amaurosis +
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
McLeod syndrome
Meckel's diverticulum
Meester-Loeys syndrome
Melnick-Needles syndrome
multiple congenital anomalies-hypotonia-seizures syndrome +
myotonia congenita +
neonatal diabetes mellitus with congenital hypothyroidism
neural tube defect +
non-congenital cyst of kidney
non-syndromic X-linked intellectual disability +
nonsyndromic congenital nail disorder +
Ogden syndrome
oligoasthenoteratozoospermia
oligospermia
omphalocele
orofacial cleft +
ovarian dysgenesis 2
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Poland syndrome
polydactyly +
primary congenital glaucoma +
primary ovarian insufficiency 1
primary ovarian insufficiency 4
radioulnar synostosis
rapidly involuting congenital hemangioma
reducing body myopathy 1B
renal-hepatic-pancreatic dysplasia
retinitis pigmentosa 2
retinitis pigmentosa 24
Sertoli cell-only syndrome +
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
Silver-Russell syndrome
spermatogenic failure +
split hand-foot malformation 2
spondyloepiphyseal dysplasia with congenital joint dislocations
syndromic microphthalmia 1
syndromic microphthalmia 13
syndromic X-linked intellectual disability +
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TARP syndrome
TORCH syndrome
visceral heterotaxy +
X-linked cardiac valvular dysplasia
X-linked central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-linked dilated cardiomyopathy
X-linked dominant disease +
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia +
X-linked hypoparathyroidism
X-linked lissencephaly 1
X-linked lissencephaly 2
X-linked nonsyndromic deafness +
X-linked panhypopituitarism
X-linked recessive disease +
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked spermatogenic failure 4
X-linked spermatogenic failure 5
X-linked spermatogenic failure 6
X-linked spermatogenic failure 8
X-linked thrombophilia due to factor IX defect
Zika virus congenital syndrome

autosomal recessive congenital bilateral absence of vas deferens
X-linked congenital bilateral absence of vas deferens