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3-methylcrotonyl-CoA carboxylase deficiency +
Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
argininosuccinic aciduria
Arthrogryposis, X-Linked, Type V
autosomal recessive osteopetrosis 3
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
carbamoyl phosphate synthetase I deficiency disease
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chromosome Xq28 Duplication Syndrome
Citrulline Transport Defect
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 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
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 +
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
N-acetylglutamate synthase deficiency
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Nystagmus 5, Infantile Periodic Alternating
ornithine carbamoyltransferase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (DO)
ornithine translocase deficiency
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
systemic primary carnitine deficiency disease
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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