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Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
acrocardiofacial syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, X-Linked, Type V
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
blepharocheilodontic syndrome +
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chromosome Xq28 Duplication Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
Cleft Palate with Ankyloglossia
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Deafness, and Oligodontia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Coloboma of Macula and Skeletal Anomalies
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
Craniosynostosis Mental Retardation Clefting Syndrome
Crumpled Helices and Small Mouth
developmental and epileptic encephalopathy 90
Diamond-Blackfan Anemia with Microtia and Cleft Palate
Dilated Cardiomyopathy 3A
distal arthrogryposis type 3
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Ectrodactyly-Cleft Palate Syndrome
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Faciocardiorenal Syndrome
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia
Feingold Trainer Syndrome
fetal akinesia deformation sequence syndrome X-linked
Genito Palato Cardiac Syndrome
Hay Wells Syndrome Recessive Type
High-Frequency Deafness, Sensorineural, X-Linked
Ho Kaufman Mcalister Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Hydrocephalus with Cerebellar Agenesis
hypertelorism, microtia, facial clefting syndrome
Hypertrichosis Congenital Generalized X-Linked
hypertrophy of tongue papillae
Hypodontia Oligodontia with Orofacial Cleft
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
intracranial berry aneurysm 5
Isolated Noncompaction of the Ventricular Myocardium +
Kallmann Syndrome 2 with Cleft Lip or Palate
Ladda Zonana Ramer Syndrome
Macrosomia with Lethal Microphthalmia
Martinez Monasterio Pinheiro Syndrome
McPherson Clemens Syndrome
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microphthalmia/Coloboma 1
Microtia, Hearing Impairment, and Cleft Palate
Midline Defects, X-Linked
multiple benign circumferential skin creases on limbs +
Multiple Epiphyseal Dysplasia with Robin Phenotype
Multiple Pterygium Syndrome, X-Linked
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Nystagmus 5, Infantile Periodic Alternating
Oculopalatocerebral Syndrome
Omphalocele, Cleft Palate Syndrome Lethal
ornithine carbamoyltransferase deficiency
Palant Cleft Palate Syndrome
Partial Agenesis of Corpus Callosum, X-Linked
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia 7
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Piepkorn Karp Hickok syndrome
popliteal pterygium syndrome +
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
Reardon Hall Slaney syndrome
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rosselli-Gulienetti Syndrome
Russell-Silver Syndrome, X-Linked
Schrander-Stumpel Theunissen Hulsmans Syndrome
Selective Tooth Agenesis with Orofacial Cleft
Selective Tooth Agenesis, X-Linked, 1
Seres-Santamaria Arimany Muniz Syndrome
Sketetal Dysplasia Coarse Facies Mental Retardation
split hand-foot malformation 2
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondylometaphyseal Dysplasia, X-Linked
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
uveal coloboma-cleft lip and palate-intellectual disability
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
Zadik Barak Levin Syndrome
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