|
|
Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
alpha-thalassemia myelodysplasia syndrome
Alves Castelo dos Santos Syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Antibody Deficiency due to Defect in CD19
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Arthrogryposis, X-Linked, Type V
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
Autoinflammation, Immune Dysregulation, and Eosinophilia
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
autosomal dominant familial periodic fever
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
C9 Deficiency with Dermatomyositis
cardiofaciocutaneous syndrome +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cd4+ Lymphocyte Deficiency
Cerebellar Ataxia and Ectodermal Dysplasia
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Chromosome Xq28 Duplication Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate with Ankyloglossia
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
combined T cell and B cell immunodeficiency +
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
cranioectodermal dysplasia +
Craniofacioskeletal Syndrome
Davenport Donlan Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
Deltaretrovirus Infections +
dendritic cell deficiency +
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 90
Dilated Cardiomyopathy 3A
Ectodermal Dysplasia Adrenal Cyst
ectodermal dysplasia and immune deficiency +
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis-Van Creveld syndrome +
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
Euhidrotic Ectodermal Dysplasia
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
External Ophthalmoplegia and Myopia
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Familial Behcet-Like Autoinflammatory Syndrome +
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
fetal akinesia deformation sequence syndrome X-linked
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
hepatic venoocclusive disease with immunodeficiency
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
High-Frequency Deafness, Sensorineural, X-Linked
Hodgkin Disease, X-Linked Pseudoautosomal
human immunodeficiency virus infectious disease +
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
Hypoglobulinemia and Absent B Cells
hypohidrotic ectodermal dysplasia +
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Inosine Phosphorylase Deficiency, Immune Defect Due To
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer Syndrome
linear skin defects with multiple congenital anomalies 2
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
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
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopia 26, X-Linked, Female-Limited
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Neurocutaneous Syndromes +
nonsyndromic aplasia cutis congenita
Nystagmus 5, Infantile Periodic Alternating
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
ornithine carbamoyltransferase deficiency
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Partial Agenesis of Corpus Callosum, X-Linked
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
phagocyte bactericidal dysfunction +
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
primary ovarian insufficiency 1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Lymphoid System Deterioration
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Pulmonary Surfactant Metabolism Dysfunction 4
pure hair and nail ectodermal dysplasia +
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rosselli-Gulienetti Syndrome
Russell-Silver Syndrome, X-Linked
scalp-ear-nipple syndrome
Schimke immuno-osseous dysplasia
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Selective Tooth Agenesis, X-Linked, 1
Seres-Santamaria Arimany Muniz Syndrome
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Sketetal Dysplasia Coarse Facies Mental Retardation
split hand-foot malformation 2
Spondylometaphyseal Dysplasia, X-Linked
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Taurodontia, Absent Teeth, Sparse Hair
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Thrombocythemia, X-Linked
Thumb Agenesis, Short Stature, and Immunodeficiency
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
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
|
|
