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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
autosomal recessive pericentral pigmentary retinopathy
Bork Stender Schmidt Syndrome
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chang Davidson Carlson Syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
combined T cell and B cell immunodeficiency +
Concentric Annular Macular Dystrophy
Cone Rod Dystrophy Amelogenesis Imperfecta
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
developmental and epileptic encephalopathy 90
Dilated Cardiomyopathy 3A
dominant pericentral pigmentary retinopathy
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
fetal akinesia deformation sequence syndrome X-linked
Furukawa Takagi Nakao Syndrome
High-Frequency Deafness, Sensorineural, X-Linked
Hodgkin Disease, X-Linked Pseudoautosomal
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
intracranial berry aneurysm 5
isolated microphthalmia 5
Isolated Noncompaction of the Ventricular Myocardium +
late-adult onset retinitis pigmentosa
Leber congenital amaurosis 14
Leber congenital amaurosis 3
Macular Dystrophy with Central Cone Involvement
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Mirhosseini-Holmes-Walton Syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple Pterygium Syndrome, X-Linked
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Newfoundland cone-rod dystrophy
Nystagmus 5, Infantile Periodic Alternating
Oliver-McFarlane syndrome
ornithine carbamoyltransferase deficiency
Partial Agenesis of Corpus Callosum, X-Linked
Peripheral Cone Dystrophy
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Pigmentary Retinopathy and Sensorineural Deafness
Posterior Column Ataxia with Retinitis Pigmentosa
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Progressive Pallidal Degeneration with Retinitis Pigmentosa
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Prostate Cancer, Hereditary, X-Linked 3
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radioulnar Synostosis Retinal Pigment Abnormalities
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
retinal cone dystrophy 3A
retinal cone dystrophy 3B
retinitis pigmentosa 3 A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis Pigmentosa Inversa with Deafness
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
retinitis pigmentosa Y-linked
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinitis Pigmentosa, Late-Onset Dominant
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Russell-Silver Syndrome, X-Linked
Selective Tooth Agenesis, X-Linked, 1
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
short-rib thoracic dysplasia 9 with or without polydactyly
Sketetal Dysplasia Coarse Facies Mental Retardation
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
split hand-foot malformation 2
spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal Dysplasia, X-Linked
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
Tapetoretinal Degeneration with Ataxia
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Vasquez Hurst Sotos Syndrome
Von Willebrand Disease, X-Linked Form
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 cone-rod dystrophy 3
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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