|
|
22q11 Deletion Syndrome +
Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
acrocardiofacial syndrome
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Arthrogryposis, X-Linked, Type V
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Branchial Arch Syndrome X-Linked
Brittle Cornea Syndrome +
Bullous Dystrophy, Hereditary Macular Type
Cantalamessa Baldini Ambrosi Syndrome
Cardiac Valvular Dysplasia +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
chromosome 1q21.1 duplication syndrome
chromosome 6pter-p24 deletion syndrome
Chromosome Xq28 Duplication Syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
Cleft Palate with Ankyloglossia
cleft palate, cardiac defects, and intellectual disability
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
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 AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
congenital nonspherocytic hemolytic anemia 1
Congenital Ptosis, Hereditary 2
Conotruncal Cardiac Defects
Coronary Vessel Anomalies +
corpus callosum agenesis-abnormal genitalia syndrome
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
developmental and epileptic encephalopathy 90
dextro-looped transposition of the great arteries +
Dilated Cardiomyopathy 3A
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome classic-like 1
Ehlers-Danlos syndrome classic-like 2
Ehlers-Danlos syndrome classic-like 3
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome kyphoscoliotic type 1
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ehlers-Danlos syndrome musculocontractural type 1
Ehlers-Danlos syndrome musculocontractural type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
Ehlers-Danlos syndrome spondylodysplastic type 1
Ehlers-Danlos syndrome spondylodysplastic type 2
Ehlers-Danlos syndrome spondylodysplastic type 3
Ehlers-Danlos Syndrome Type 4 +
Ehlers-Danlos Syndrome Type 7 +
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Ehlers-Danlos Syndrome, Beasley Cohen Type
Ellis Yale Winter Syndrome
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
fetal akinesia deformation sequence syndrome X-linked
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Hernandez Aguirre-Negrete Syndrome
High-Frequency Deafness, Sensorineural, X-Linked
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Holzgreve-Wagner-Rehder syndrome
Hydrocephalus with Cerebellar Agenesis
hypertelorism, microtia, facial clefting syndrome
Hypertrichosis Congenital Generalized X-Linked
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Kasznica Carlson Coppedge Syndrome
Larsen-like syndrome B3GAT3 type
Lethal Faciocardiomelic Dysplasia
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mehta Lewis Patton Syndrome
Membranoproliferative Glomerulonephritis, X-Linked
Membranous Subaortic Stenosis
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mexican Cardiomelic Dysplasia
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Multiple Pterygium Syndrome, X-Linked
Myopia 26, X-Linked, Female-Limited
Myxomatous Mitral Valve Prolapse 1
Myxomatous Mitral Valve Prolapse 2
Myxomatous Mitral Valve Prolapse 3
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan syndrome with multiple lentigines +
Nystagmus 5, Infantile Periodic Alternating
ornithine carbamoyltransferase deficiency
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Partial Agenesis of Corpus Callosum, X-Linked
patent ductus arteriosus +
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Powell Chandra Saal Syndrome
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
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
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
Right Ventricle Hypoplasia
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rommen Mueller Sybert Syndrome
Russell-Silver Syndrome, X-Linked
Sacral Meningocele Conotruncal Heart Defects
Selective Tooth Agenesis, X-Linked, 1
Short Stature, Developmental Delay, and Congenital Heart Defects
Simpson-Golabi-Behmel syndrome type 1
Sketetal Dysplasia Coarse Facies Mental Retardation
split hand-foot malformation 2
Spondylometaphyseal Dysplasia, X-Linked
Structural Heart Defects and Renal Anomalies Syndrome
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
terminal osseous dysplasia
Testicular Anomalies with or without Congenital Heart Disease
Testicular Germ Cell Tumor 1
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Vasquez Hurst Sotos Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
Von Willebrand Disease, X-Linked Form
Wolff-Parkinson-White syndrome
X Inactivation, Familial Skewed, 1
X Inactivation, Familial Skewed, 2
X-Linked Anemia without Thrombocytopenia
X-linked cardiac valvular dysplasia A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. (DO)
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
|
|
