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Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Arthrogryposis, X-Linked, Type V
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
Bothnia retinal dystrophy
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
cataract 17 multiple types
cataract 22 multiple types
Cavitary Optic Disc Anomalies
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
combined T cell and B cell immunodeficiency +
Concentric Annular Macular Dystrophy
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital fibrosis of the extraocular muscles 5
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
congenital hypotrichosis with juvenile macular dystrophy
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
degeneration of macula and posterior pole +
developmental and epileptic encephalopathy 90
Dilated Cardiomyopathy 3A
Duane retraction syndrome +
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
exudative vitreoretinopathy +
familial benign fleck retina
fetal akinesia deformation sequence syndrome X-linked
Foveal Hypoplasia with Anterior Segment Anomalies
Glaucoma 1, Open Angle, P
Grouped Pigmentation of the Macula
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
High-Frequency Deafness, Sensorineural, X-Linked
Histiocytic Dermatoarthritis
Hodgkin Disease, X-Linked Pseudoautosomal
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
intracranial berry aneurysm 5
Iris Pigment Epithelium Anomalies
Isolated Noncompaction of the Ventricular Myocardium +
Kuhnt-Junius degeneration +
Leber congenital amaurosis +
Macular Degeneration, Early-Onset
Macular Dystrophy with Central Cone Involvement
Macular Dystrophy, Fenestrated Sheen Type
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Microcephaly and Chorioretinopathy +
Microcephaly Microcornea Syndrome Seemanova Type
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Multiple Pterygium Syndrome, X-Linked
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Nystagmus 5, Infantile Periodic Alternating
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
ornithine carbamoyltransferase deficiency
Partial Agenesis of Corpus Callosum, X-Linked
patterned macular dystrophy +
Peripapillary Atrophy, Beta Type
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
pigmented paravenous chorioretinal atrophy
PORETTI-BOLTSHAUSER SYNDROME
primary congenital glaucoma +
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Prostate Cancer, Hereditary, X-Linked 3
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Drusen, Autosomal Dominant
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
renal hypomagnesemia 5 with ocular involvement
Reticuloendotheliosis, X-Linked
Retinal Dystrophy, Early Onset Severe +
retinal macular dystrophy +
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Russell-Silver Syndrome, X-Linked
Selective Tooth Agenesis, X-Linked, 1
Sketetal Dysplasia Coarse Facies Mental Retardation
Sorsby's fundus dystrophy
split hand-foot malformation 2
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stickler Syndrome, Type I, Nonsyndromic Ocular
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Vasquez Hurst Sotos Syndrome
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Von Willebrand Disease, X-Linked Form
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
X Inactivation, Familial Skewed, 1
X Inactivation, Familial Skewed, 2
X-Linked Anemia without Thrombocytopenia
X-linked cardiac valvular dysplasia
X-linked central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-Linked Cone Dystrophy with Tapetal-like Sheen
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked congenital myopathy with fiber-type disproportion
X-linked dilated cardiomyopathy
X-linked dominant disease +
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia +
X-Linked Hypogammaglobulinemia
X-linked hypoparathyroidism
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-Linked Intellectual Developmental Disorders +
X-Linked Macular Dystrophy +
X-Linked Modifier for Neurofunctional Defects
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 Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
X-linked thrombophilia due to factor IX defect
X-Linked Thrombophilia due to Factor VIII Defect
X-Linked Vesicoureteral Reflux
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