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Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
Acromegaloid Facial Appearance Syndrome
acromesomelic dysplasia-3
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Arthrogryposis, X-Linked, Type V
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia Type 1, Hobaek Type
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Cardioacrofacial Dysplasia +
Cartwright Nelson Fryns Syndrome
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
Chromosome Xq28 Duplication Syndrome
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 limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Ptosis, Hereditary 2
Congenital Upper Extremity Deformities +
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
developmental and epileptic encephalopathy 90
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Dilated Cardiomyopathy 3A
Distal Transverse Limb Defects with Mental Retardation and Spasticity
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
fetal akinesia deformation sequence syndrome X-linked A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. (DO)
fetal encasement syndrome
Freire-Maia Odontotrichomelic Syndrome
Grubben de Cock Borghgraef Syndrome
Hand and Foot Deformity with Flat Facies
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
High-Frequency Deafness, Sensorineural, X-Linked
Hodgkin Disease, X-Linked Pseudoautosomal
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
Ichthyosis Tapered Fingers Midline Groove Up
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Kaplan Plauchu Fitch Syndrome
Kaufman oculocerebrofacial syndrome
Laryngeal Atresia, Encephalocele, and Limb Deformities
Le Marec Bracq Picaud Syndrome
Lethal Faciocardiomelic Dysplasia
Lower Extremity Deformities, Congenital +
Lynch Lee Murday syndrome
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation Spasticity Ectrodactyly
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelia-Synostoses Syndrome
Metaphyseal Anadysplasia +
Microcephaly Microcornea Syndrome Seemanova Type
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microphthalmia/Coloboma 1
Midline Defects, X-Linked
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neural Tube Defects X-Linked
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Nystagmus 5, Infantile Periodic Alternating
ornithine carbamoyltransferase deficiency
Palant Cleft Palate Syndrome
Partial Agenesis of Corpus Callosum, X-Linked
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Pterygium Of Conjunctiva And Cornea
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radius Absent Anogenital Anomalies
Reardon Hall Slaney syndrome
reducing body myopathy 1B
Renal Dysplasia - Limb Defects Syndrome
Reticuloendotheliosis, X-Linked
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rubinstein Taybi like Syndrome
Russell-Silver Syndrome, X-Linked
Ruzicka Goerz Anton syndrome
Selective Tooth Agenesis, X-Linked, 1
Short Stature-Obesity Syndrome
Sketetal Dysplasia Coarse Facies Mental Retardation
Splenogonadal Fusion with Limb Defects and Micrognathia
split hand-foot malformation +
split hand-foot malformation 2
Split-Foot Malformation with Mesoaxial Polydactyly
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondylometaphyseal Dysplasia, X-Linked
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 13
syndromic microphthalmia 6
Systemic Autoinflammatory Disease, X-Linked
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Tetramelic Postaxial Oligodactyly
thanatophoric dysplasia +
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoraco Limb Dysplasia Rivera Type
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vasquez Hurst Sotos Syndrome
Viljoen Kallis Voges Syndrome
Von Willebrand Disease, X-Linked Form
Weill-Marchesani Syndrome 3
Weyers acrofacial dysostosis
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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