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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
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
combined T cell and B cell immunodeficiency +
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
congenital nonspherocytic hemolytic anemia 1
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
developmental and epileptic encephalopathy 90
Dilated Cardiomyopathy 3A
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
fetal akinesia deformation sequence syndrome X-linked
frontometaphyseal dysplasia +
High-Frequency Deafness, Sensorineural, X-Linked
Hodgkin Disease, X-Linked Pseudoautosomal
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Melnick-Needles syndrome An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Microcephaly Microcornea Syndrome Seemanova Type
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Multiple Pterygium Syndrome, X-Linked
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Nystagmus 5, Infantile Periodic Alternating
ornithine carbamoyltransferase deficiency
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
Partial Agenesis of Corpus Callosum, X-Linked
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
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 Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
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
split hand-foot malformation 2
Spondylometaphyseal Dysplasia, X-Linked
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
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 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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