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 nonspherocytic hemolytic anemia 1
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
dilated cardiomyopathy 3B
dilated cardiomyopathy 3C
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
fetal akinesia deformation sequence syndrome X-linked
gastroschisis
Gollop-Wolfgang complex
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 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