| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration |
OMIM:620315 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Dementia, Depression |
OMIM:615889 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Hypopl... |
OMIM:600638 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventricu... |
ORPHA:171703 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Syringomyelia, Agen... |
OMIM:207950 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Depression |
ORPHA:306669 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Memory impairment |
OMIM:221770 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Clinodactyly of the 5th finger, Dysplastic corpus callosum, Clinodactyly of the 5th toe, Primary ... |
OMIM:618010 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Microcephaly, Short finger, Death in childhood, Acrocyanosis |
OMIM:302000 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Attention deficit hyperactivity disorder |
OMIM:619725 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Partial agenesis of the corpus callosum, Small hand, Simplified gyral patter... |
ORPHA:300570 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Cognitive impairment, Attention defici... |
ORPHA:300573 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Secondary microcephaly, Apnea |
OMIM:610992 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Camptodactyly |
OMIM:617055 |
| Cach Syndrome |
|
Progressive neurologic deterioration, T2 hypointense thalamus, Irritability, Lateral ventricle di... |
ORPHA:135 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Respiratory insu... |
OMIM:617668 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Memory impairment, Dilated third ventricle, Depression |
ORPHA:314404 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria |
OMIM:614870 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cyanosis, Dysplastic... |
ORPHA:488627 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Bilateral talipes equinova... |
ORPHA:284417 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus |
OMIM:610947 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Attention defi... |
ORPHA:544488 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Attention deficit hyperactivity disorder |
ORPHA:500055 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Lateral ventricle dilatation, Attention deficit hyperactivity... |
OMIM:617854 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Respiratory insufficiency, Degeneration of anterior... |
OMIM:607596 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:618736 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Microcephaly, A... |
ORPHA:2257 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micromelia, Erythema, Sub... |
OMIM:610015 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus, Depression |
ORPHA:73256 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus cal... |
ORPHA:79243 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypermobility of toe joints, Hyperextensibility of the finger joints, Abnormal lateral ventricle ... |
ORPHA:488635 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Irritability, Dilated third ventricle, Ventriculomegaly |
OMIM:615574 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... |
OMIM:610910 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Attention deficit hyperactivit... |
OMIM:619575 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V... |
ORPHA:397715 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Hypoplasia of... |
OMIM:616900 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Progressive microcephaly |
ORPHA:71277 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Ulnar deviation of the hand, Femur fracture, Respiratory insufficiency due to musc... |
OMIM:618291 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Memory impairment, Lateral ventricle dilatation, Progressive language deterioration, Frontotempor... |
OMIM:607485 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Microcephaly, Temporal cortical atrophy, Exertional dyspnea, Frontal cortical atrophy, ... |
ORPHA:621 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Hand clenching, Lissencephaly, Neonatal death, Agenesis of corpus... |
OMIM:616342 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Lateral ventricle dilatation, Cognitive impairment |
ORPHA:2148 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
ORPHA:464738 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Mental deterioration, Memory impairment, Lateral ventricle dilatation, Deme... |
ORPHA:2822 |
| Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... |
OMIM:307000 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the ... |
OMIM:616034 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:3078 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
| Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of th... |
ORPHA:2524 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... |
OMIM:612863 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus, Microcephaly |
OMIM:150260 |
| Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dilatation, Dilat... |
OMIM:304050 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Cyanosis, Overlappin... |
ORPHA:3309 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Microcephaly, Dysplastic corpus callosum, Death in childhood, Camptodactyly |
OMIM:604273 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... |
ORPHA:747 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Microcephaly, Partial agenesis of the corpus callosu... |
OMIM:617478 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Microcephaly, Tapered finger, Long fingers, Simplified gyral pattern, Abnormal cerebral white mat... |
OMIM:614407 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Polyd... |
ORPHA:137914 |
| Slc35A2-Cdg |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Dysplasia of the femoral head |
OMIM:616854 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
| Halperin-Birk Syndrome |
|
Aspiration, Colpocephaly, Talipes equinovarus, Death in childhood, Umbilical hernia, Agenesis of ... |
OMIM:618651 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Respiratory failure, Paroxysmal d... |
ORPHA:444013 |
| Weiss-Kruszka Syndrome |
|
Proximal placement of thumb, Colpocephaly, Hypoplasia of the corpus callosum, Clinodactyly of the... |
OMIM:618619 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood |
OMIM:619423 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Clubbing, Telangiectasia, Hypoxemia, Ischemic stroke, P... |
ORPHA:2038 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas... |
OMIM:619179 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Low frustration tolerance |
ORPHA:457279 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Progeroid facial appearance, Dysplastic corpus c... |
ORPHA:357058 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Abnormal basal ganglia morphology, Cerebral atr... |
ORPHA:391428 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, Partial ag... |
OMIM:620113 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Microcephaly, Atelectasis, Abnormal finger morphology, Cutaneous finger ... |
ORPHA:896 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Microcephaly, Hand clenching, Thin corpus callosum, Ventriculomegaly |
OMIM:619580 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
| Distal Deletion 10Q |
|
Lateral ventricle dilatation, Attention deficit hyperactivity disorder |
ORPHA:96148 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation |
ORPHA:565624 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Hypoplasia of the capital fe... |
ORPHA:557003 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Cli... |
OMIM:616975 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation |
OMIM:611209 |
| Aicardi-Goutieres Syndrome 9 |
|
Irritability, Lateral ventricle dilatation |
OMIM:619487 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... |
OMIM:618426 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Microcephaly |
OMIM:250800 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Cough, Agenesis of corpus callosum, Pulmonary edema |
ORPHA:137675 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Coxa valga, Hydrocephalus, Colpocephaly, Hammertoe, Periventricular leukomalacia, T... |
OMIM:619833 |
| Encephalopathy, Ethylmalonic |
|
Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... |
ORPHA:434179 |
| Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Basal ganglia... |
OMIM:617281 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
| Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Microcephaly, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplas... |
OMIM:609053 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Respiratory insufficiency, Colpocephaly, Talipes equinovarus, Hypoplasia of the cor... |
OMIM:617260 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Microcephaly, Dysplastic corpus callosum, Tapered finger, Short thumb, Split hand,... |
OMIM:618569 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, P... |
OMIM:619879 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Cerebral atrophy |
OMIM:261680 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
| Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Petechiae, Microcephaly, Basal ganglia calcificatio... |
OMIM:225750 |
| Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation |
OMIM:615485 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
| Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
| Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation, Attention deficit hyperactivity disorder |
OMIM:617557 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit... |
ORPHA:177907 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Microcephaly, Short finger, Acrocyanosis |
ORPHA:1867 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Microcephaly, Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corp... |
ORPHA:314679 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly |
OMIM:619479 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Cerebral calcification, Pneumonia, ... |
ORPHA:1855 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae |
ORPHA:51188 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Microcephaly, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers |
ORPHA:3304 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Irritability, Lateral ventric... |
OMIM:615873 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Microcephaly |
ORPHA:159 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Lateral ventricle dilatation |
OMIM:618367 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
| Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of prox... |
ORPHA:2886 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Hyperintensity of cerebral white matter on MRI, Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... |
ORPHA:1329 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leuko... |
OMIM:252010 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Hyperextensibility of the finger joints, Syndactyly, Cutis marmorata, Diap... |
OMIM:151050 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Calcaneovalgus deformity, Large basal ganglia, Abnormality of the pulmonary artery, Agenesis of c... |
ORPHA:261552 |
| Dravet Syndrome |
|
Cyanotic episode, Tibial torsion |
ORPHA:33069 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Laryngotracheomalac... |
ORPHA:1199 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Partial agenesis of the corpus callosum, Preaxial polydactyly, Microlissencephaly, Fe... |
OMIM:210710 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Overlapping toe, Ventriculomegaly, Camptodactyly |
ORPHA:363444 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... |
ORPHA:183 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ede... |
ORPHA:31826 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... |
OMIM:187300 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Clubbing |
ORPHA:439 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Depression, Irritability, Lateral ventricle dilatation, Menta... |
ORPHA:2388 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... |
ORPHA:141127 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasi... |
ORPHA:268943 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Abnormal spinal cord morphology |
ORPHA:494 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Metatarsus adductus, Jaundice, Macrogyria, Death in adolescence, Colpocephaly, ... |
OMIM:614866 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:300868 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal spinal cord morphology, Proximal femoral metaphyseal abnormal... |
ORPHA:83468 |
| Acute Disseminated Encephalomyelitis |
|
Respiratory failure requiring assisted ventilation, Hypointensity of cerebral white matter on MRI... |
ORPHA:83597 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Proximal placement of thumb, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:261250 |
| Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Tethered cord, Arachnodactyly, Microcephaly, Coxa valga, Metaphyseal widening, Hand clenching, Cl... |
OMIM:620083 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microce... |
OMIM:618820 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c... |
OMIM:301043 |
| Poems Syndrome |
|
Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory ... |
ORPHA:2905 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Aqueductal stenosis, Hydrocephalus, Myel... |
OMIM:306955 |
| Pitt-Hopkins Syndrome |
|
Microcephaly, Tapered finger, Broad fingertip, Short metatarsal, Small hand, Aplasia/Hypoplasia o... |
ORPHA:2896 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Angiokeratoma |
ORPHA:53721 |
| Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Micromelia, Proximal placement of thumb, Partial agenesis of the corpus... |
OMIM:270400 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Khan-Khan-Katsanis Syndrome |
|
Tethered cord, Postaxial polydactyly, Microcephaly, Colpocephaly, Clinodactyly, Ventriculomegaly |
OMIM:618460 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... |
ORPHA:500150 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:607872 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Short thumb, Colpocephaly, Clinodactyly of the 5th finger, Hypoplasia of the corp... |
ORPHA:477993 |
| Aicardi-Goutières Syndrome |
|
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... |
ORPHA:51 |
| Adrenomyeloneuropathy |
|
Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the ... |
ORPHA:139399 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Dysplastic corpus callosum, Small hand, Short foot, Abnormal cerebral w... |
OMIM:617140 |
| Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... |
ORPHA:221 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... |
ORPHA:293987 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus ... |
ORPHA:75857 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Abnormal periventricular white matter morphology |
ORPHA:139396 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Abnormal spinal cord morphology, Abnormal basa... |
ORPHA:68 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Syndactyly, Broad hallux... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Syndactyly, Broad hallux... |
ORPHA:353277 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Genitopatellar Syndrome |
|
Microcephaly, Patellar aplasia, Colpocephaly, Radioulnar synostosis, Pulmonary hypoplasia, Short ... |
OMIM:606170 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Lateral ventricle dilatation |
OMIM:619534 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Aort... |
ORPHA:97214 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Superficial Siderosis |
|
Enlarged sylvian cistern, Atrophy of the spinal cord, Abnormal spinal cord morphology, Dysgyria, ... |
ORPHA:247245 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Ischemic stroke, Vasculitis in the skin, Acrocyanos... |
ORPHA:48435 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Coxa valga, Upper airway obstruction, Osteolytic d... |
ORPHA:740 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dysplastic corpus callosum, Thick corpus callosum, Synostosis of the proximal phal... |
OMIM:300967 |
| Witteveen-Kolk Syndrome |
|
Short palm, Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placemen... |
OMIM:613406 |
| Tetrasomy 9P |
|
Pachygyria, Abnormal spinal cord morphology, Jaundice, Hydrocephalus, Small hand, Pulmonary arter... |
ORPHA:3310 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261537 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Cutis marmorata, Microcephaly, Tapered... |
OMIM:303600 |
| Primary Sjögren Syndrome |
|
Cutis marmorata, Lymphocytic interstitial pneumonia, Bronchitis, Nonproductive cough, Abnormal sp... |
ORPHA:289390 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Dysplastic corpus callosum, Synostosis involving the 1st metacarpal, Hypoplasia of... |
ORPHA:466791 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cerebral calcification, Cyanosis, Abnormal calcification of the carpal bone... |
ORPHA:51608 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Umbilical hernia, Talipe... |
ORPHA:287 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Acrocyanosis, Apnea |
ORPHA:285 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Abnormal spinal cord morphology |
ORPHA:1724 |
