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Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis, X-Linked, Type V
Blepharoptosis, Myopia, and Ectopia Lentis
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
Cochlear Deafness with Myopia and Intellectual Impairment
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 Ptosis, Hereditary 2
congenital stationary night blindness +
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
developmental and epileptic encephalopathy 90
Dilated Cardiomyopathy 3A
Epidermodysplasia Verruciformis, X-Linked
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
fetal akinesia deformation sequence syndrome X-linked
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 Microphthalmia with Corectopia
Isolated Noncompaction of the Ventricular Myocardium +
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Microcephaly Microcornea Syndrome Seemanova Type
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Mousa Al din Al Nassar Syndrome
multiple epiphyseal dysplasia with myopia and deafness
Multiple Pterygium Syndrome, X-Linked
Myopia 17, Autosomal Dominant
Myopia 18, Autosomal Recessive
Myopia 19, Autosomal Dominant
Myopia 20, Autosomal Dominant
Myopia 21, Autosomal Dominant
Myopia 22, Autosomal Dominant
Myopia 23, Autosomal Recessive
Myopia 24, Autosomal Dominant
Myopia 25, Autosomal Dominant
Myopia 26, X-Linked, Female-Limited A disease characterized by female-limited, early-onset high myopia. The fundus of patients shows a tigroid appearance, and there is a temporal crescent of the optic nerve head. MYP26 is caused by mutation in the ARR3 gene on chromosome Xq13. (OMIM)
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Night Blindness Skeletal Anomalies Unusual Facies
Noble Bass Sherman Syndrome
Nystagmus 5, Infantile Periodic Alternating
ornithine carbamoyltransferase deficiency
Partial Agenesis of Corpus Callosum, X-Linked
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Polydactyly Myopia Syndrome
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
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
Sinus Node Disease and Myopia
Sketetal Dysplasia Coarse Facies Mental Retardation
split hand-foot malformation 2
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
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 7
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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