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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
Braddock Carey Syndrome +
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Cardiac Valvular Dysplasia +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Carey-Fineman-Ziter syndrome +
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chitayat Meunier Hodgkinson Syndrome
Chromosome 17q23.1-q23.2 Duplication Syndrome
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 disabillity
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
distal arthrogryposis type 3
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 musculocontractural type 2
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
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
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
otospondylomegaepiphyseal dysplasia, autosomal dominant
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
Pierre Robin Sequence with Facial and Digital Anomalies
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies
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 Defect Robin Sequence
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Richieri Costa Pereira Syndrome
Right Ventricle Hypoplasia
Robin Sequence and Oligodactyly
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rommen Mueller Sybert Syndrome
Russell-Silver Syndrome, X-Linked
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
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
Stoll Alembik Dott Syndrome
Structural Heart Defects and Renal Anomalies Syndrome
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
TARP syndrome A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (DO)
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
Ulnar Hypoplasia with Mental Retardation
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
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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