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Abruzzo-Erickson syndrome
Achromatopsia Incomplete, X-Linked
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis, X-Linked, Type V
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
Autosomal Dominant Intellectual Developmental Disorder 60
autosomal recessive spinocerebellar ataxia 12
Baraitser-Winter syndrome +
Beta-Amino Acids, Renal Transport of
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
chromosome 17q11.2 deletion syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
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 Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
developmental and epileptic encephalopathy 90
Developmental Delay, Epilepsy, and Neonatal Diabetes
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Dilated Cardiomyopathy 3A
distal 10q deletion syndrome
Drug Resistant Epilepsy +
early-onset vitamin B6-dependent epilepsy
electroclinical syndrome +
Epidermodysplasia Verruciformis, X-Linked
Epilepsy, Occipital Calcifications
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
fetal akinesia deformation sequence syndrome X-linked
Focal Cortical Dysplasia of Taylor +
Glycosylphosphatidylinositol Deficiency +
Gurrieri Sammito Bellussi Syndrome
High-Frequency Deafness, Sensorineural, X-Linked
Hodgkin Disease, X-Linked Pseudoautosomal
Hydrocephalus with Cerebellar Agenesis
Hypertrichosis Congenital Generalized X-Linked
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
intracranial berry aneurysm 5
Isolated Microphthalmia with Coloboma 1
Isolated Noncompaction of the Ventricular Myocardium +
Kohlschutter-Tonz syndrome
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly, Epilepsy, and Diabetes Syndrome +
microcephaly, growth deficiency, seizures, and brain malformations
Midline Defects, X-Linked
Multiple Pterygium Syndrome, X-Linked
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Myopia 26, X-Linked, Female-Limited
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with language delay and seizures
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
Nystagmus 5, Infantile Periodic Alternating
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
ornithine carbamoyltransferase deficiency
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partial Agenesis of Corpus Callosum, X-Linked
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy
primary ovarian insufficiency 1
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Pulmonary Surfactant Metabolism Dysfunction 4
pyridoxamine 5'-phosphate oxidase deficiency
pyridoxine-dependent epilepsy
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Retinal Degeneration and Epilepsy
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Russell-Silver Syndrome, X-Linked
Sandhaus Ben-Ami Syndrome
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selective Tooth Agenesis, X-Linked, 1
Sketetal Dysplasia Coarse Facies Mental Retardation
Slavotinek Pike Mills Hurst Syndrome
Specific Learning Disorder
Spinocerebellar Ataxia with Epilepsy
split hand-foot malformation 2
Spondylometaphyseal Dysplasia, X-Linked
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndromic microphthalmia 13
syndromic X-linked intellectual disability Hedera type
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
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 An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)
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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