Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Athetosis, Axonal loss, Gliosis, Dystonia |
OMIM:300857 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:607432 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Respira... |
OMIM:611722 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... |
OMIM:618677 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... |
OMIM:611890 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... |
ORPHA:90117 |
Developmental And Epileptic Encephalopathy 71 |
|
Simplified gyral pattern, Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failu... |
OMIM:618328 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... |
ORPHA:171680 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... |
OMIM:105550 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Cereb... |
OMIM:304100 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Optic atrophy, Cerebral atrophy, Respir... |
OMIM:619057 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Respiratory insufficiency |
OMIM:617892 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi... |
OMIM:611603 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood, Failure to thrive, Cerebral c... |
OMIM:616081 |
Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anteri... |
ORPHA:2254 |
Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus ... |
ORPHA:370959 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Facial palsy, Respiratory insufficiency due to muscle weakne... |
OMIM:159950 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot... |
ORPHA:352682 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ... |
OMIM:301830 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Perisylvian polymicrogy... |
ORPHA:280195 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A... |
OMIM:604320 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia |
OMIM:618572 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Degener... |
OMIM:604484 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Abnormal autonomic nervous system physiology, Ort... |
ORPHA:441 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Pontocerebellar Hypoplasia, Type 1A |
|
Respiratory insufficiency, Hand tremor, Degeneration of anterior horn cells, Intercostal muscle w... |
OMIM:607596 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Hand tremor |
OMIM:253550 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Resp... |
OMIM:610127 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Cranial nerve compression, Abn... |
ORPHA:52430 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Leigh Syndrome |
|
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Gliosis, ... |
OMIM:256000 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven... |
OMIM:613155 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... |
ORPHA:803 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Abnormality of the hypothalamus-pituitary axis, Cerebellar vermis hypoplasia, Agan... |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Abnormality of neuronal mig... |
OMIM:608840 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Facial palsy |
OMIM:615348 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Cyanosis, Small for gestational age, Temporal cortical atrophy, Athetosis, Li... |
ORPHA:621 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Cerebellar hypoplasia |
OMIM:615917 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Atrophy/Degeneration affecting the brainstem, Respiratory failure, Brain... |
OMIM:616277 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:612069 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Cryptorchidism, Patent ductus ar... |
ORPHA:452 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells, Hand tremor |
OMIM:253400 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria |
OMIM:617757 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Parti... |
OMIM:616171 |
Joubert Syndrome 14 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ventricular septal de... |
OMIM:614424 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fi... |
OMIM:619111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp... |
OMIM:613153 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Left ventri... |
OMIM:252011 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Gliosis |
OMIM:225753 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure, Cerebral atrophy |
OMIM:618637 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ... |
OMIM:614815 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Situs inversus totalis, Hydro... |
ORPHA:475 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Abnormality of the hypothalamus-pituitary axis, Cerebellar vermis hypoplasia, Agan... |
ORPHA:220497 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Molar tooth sign on MRI, ... |
OMIM:617622 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callo... |
OMIM:617127 |
3C Syndrome |
|
Adrenal hypoplasia, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal re... |
ORPHA:7 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Tremor,... |
ORPHA:2590 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Hy... |
OMIM:611134 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Atrial septal defect, Cerebellar vermis hypoplasia, Frontal pol... |
OMIM:608629 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... |
ORPHA:300573 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Limb joint contracture, Abnormal midbrain morphology, Camptodactyly of finger... |
ORPHA:356961 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of... |
ORPHA:2318 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Gliosis, Pachygyria |
ORPHA:168486 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon, Cerebellar hypoplasia |
ORPHA:1497 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Postural tremor |
OMIM:608627 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Optic atrophy, Gray matter heterotopia, Gliosis, Pachygyria, Polymicr... |
ORPHA:99802 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly... |
ORPHA:2185 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Respiratory insufficienc... |
OMIM:618186 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, ... |
ORPHA:945 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... |
ORPHA:59315 |
L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Neuronal loss in central nervous system, Peripheral demyelination, Myelitis |
ORPHA:71211 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Tachypnea, Cerebral atrophy, Death in childhood, Respirato... |
OMIM:615838 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Cerebellar gliosis, Optic atrophy, Resp... |
OMIM:616505 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Facial palsy, Cerebral cortical atrophy, Respiratory insufficiency |
ORPHA:370968 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocepha... |
ORPHA:899 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Polymicrogyria |
OMIM:615330 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormality of neuronal migration, Hypoplastic left he... |
ORPHA:2772 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Res... |
OMIM:245400 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res... |
ORPHA:98913 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Head... |
OMIM:205100 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fat... |
OMIM:312170 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus c... |
ORPHA:3338 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Inte... |
ORPHA:210122 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Optic atrophy, Abnormal brainstem morphology, Telangiec... |
ORPHA:79279 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Optic atrophy,... |
ORPHA:98755 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia o... |
OMIM:615181 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Tremor, Respiratory insufficiency due ... |
OMIM:615512 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Malformation of the hepatic ductal plate, Anen... |
OMIM:614175 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Amyotrophic lateral sclerosis, Cachexia, Head titubation, Opisthotonus, Arm dysto... |
ORPHA:300605 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Aspiration, Amyotrophic lateral sclerosis, Respiratory insuf... |
ORPHA:600 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Hand tremor |
OMIM:271150 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Neona... |
ORPHA:85284 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Hepatomegaly, Cerebellar vermis hypoplasia, Occipital encephalo... |
OMIM:216360 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Failure to thrive, Respiratory insufficiency, Opisthotonus, Respiratory failure... |
OMIM:605711 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... |
ORPHA:1145 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Central apnea, Cyanosis, Dystonia |
ORPHA:71277 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Peripheral axonal neuropathy, Neonatal respiratory distress, Abnormal cortical gyration, Patent d... |
OMIM:616867 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig... |
OMIM:300049 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... |
OMIM:619167 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Increased body weight, Respiratory failure |
ORPHA:890 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cyanosis, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atro... |
ORPHA:391428 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II... |
OMIM:614643 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... |
ORPHA:276244 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morpholog... |
ORPHA:83473 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aquedu... |
OMIM:619895 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure, Death in infancy |
OMIM:618240 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Hyperekplexia 4 |
|
Respiratory failure, Cerebral atrophy |
OMIM:618011 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... |
OMIM:616212 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Fryns Syndrome |
|
Dandy-Walker malformation, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmati... |
ORPHA:2059 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Facial palsy, Restrictive ventilatory defect, Respiratory failure, Pachygyria |
OMIM:606612 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Flexion contracture, Hypoplasia of the brainstem, Holoprosencephaly, Atr... |
OMIM:253800 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Caudate atrophy, Tremor, Cerebral atrophy, Respiratory failu... |
ORPHA:363400 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V... |
OMIM:614120 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypopla... |
ORPHA:65 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Vici Syndrome |
|
Hypoplasia of the pons, Optic atrophy, Cardiomyopathy, Gray matter heterotopia, High palate, Cere... |
ORPHA:1493 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cryptorchidism, Abnormality of neur... |
OMIM:300957 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o... |
OMIM:618273 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:608091 |
Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Optic disc pallor, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:213300 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Abnormal midbrain morphology, Foot joint contracture, Hypoplasia of th... |
ORPHA:444072 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia |
OMIM:276950 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cerebral atrophy, Opisthotonus, Death in childhood, Respiratory failur... |
OMIM:619847 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ... |
OMIM:239300 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171433 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... |
OMIM:243180 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Congestive heart failure, Cardiom... |
ORPHA:3386 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circulating cortisol level, ... |
OMIM:620305 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology, Ventr... |
ORPHA:255182 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, High, narrow palate, Hydro... |
ORPHA:228308 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Campto... |
OMIM:617822 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, ... |
ORPHA:163961 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Supernumerary nipple, Ab... |
ORPHA:397715 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Opisthotonus, Cervical myelopathy, Gray matter heterotopia, Syringomyelia... |
OMIM:207950 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Rhabdomyolysis, Abnormality of neurona... |
ORPHA:157 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray ... |
OMIM:617397 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration, Holopr... |
ORPHA:93274 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis, Colon cancer |
OMIM:619101 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ... |
OMIM:615219 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S... |
OMIM:615948 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Hamartoma of tongue, Congenital diaphragmatic... |
OMIM:616546 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... |
OMIM:610688 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... |
OMIM:604317 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Optic atro... |
OMIM:304340 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern |
ORPHA:411493 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Macrogyria, Titubation, Respiratory failure, Gliosis, Failure to thrive |
ORPHA:280210 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Respiratory f... |
OMIM:620327 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Cleft palate, Pachygyria, Aganglionic megacolon, Ventriculomegaly |
ORPHA:66629 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe... |
OMIM:619306 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, Chiari type I malformation... |
OMIM:270400 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele, Hepatic fibrosis, Ventriculomegaly |
OMIM:612285 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea, Cerebral atrophy |
OMIM:261680 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, Pa... |
ORPHA:467166 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria... |
OMIM:614922 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Brain atrophy |
OMIM:620326 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea |
OMIM:618233 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... |
OMIM:600501 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial ... |
ORPHA:68 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Chiari malformation, Apl... |
ORPHA:2481 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Respiratory failure, Generalized dystonia |
ORPHA:70472 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Brain atrop... |
OMIM:617186 |
Desmosterolosis |
|
Intestinal malrotation, Abnormal cortical gyration, Splenomegaly, Patent ductus arteriosus, Hydro... |
ORPHA:35107 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate, Atrial septal defect, Dandy-Walker malformation |
OMIM:614207 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Hypopnea, ... |
OMIM:617248 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate, Atrial septal defect, Anal atresia, Ventricul... |
OMIM:614749 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Congenital contracture, Pachygyria, Agenesi... |
OMIM:236670 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malform... |
OMIM:615879 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Decreased body weight, Facial palsy, Respiratory insufficiency, Astrocytosis, Pu... |
ORPHA:258 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, High palate, Molar tooth sign on MRI,... |
OMIM:619185 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the brainst... |
OMIM:609460 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph... |
OMIM:258450 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, C... |
ORPHA:206436 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Asplenia, Lobulated tongue, Molar tooth sign on MRI,... |
OMIM:249000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Orbital encephalocele, Cleft palate, Gray matter heterotopia, Agenesis of corpus ... |
OMIM:164180 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive |
ORPHA:444013 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Congeni... |
ORPHA:1454 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hypoplastic le... |
OMIM:277170 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... |
ORPHA:388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Polymicrogyria, Opisthotonus |
OMIM:610678 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Hypoplasia of th... |
OMIM:618325 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia, Abnormality of neuronal migration |
ORPHA:1314 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Cryptorchidism, Optic atrophy, Partia... |
OMIM:619512 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate, Patent ductus arterio... |
OMIM:612863 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Cerebral atrophy, Syringomyelia, Dystonia, Myelitis |
ORPHA:1320 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor |
OMIM:617121 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Resp... |
OMIM:618291 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Diabetes mellitus, Foot joint contractur... |
ORPHA:456312 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Patent ductus arteriosus, Hydroc... |
OMIM:618162 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... |
OMIM:229850 |
Fanconi Anemia |
|
Abnormality of the liver, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu... |
ORPHA:84 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Ventricul... |
ORPHA:2655 |
Alg1-Cdg |
|
Cerebellar atrophy, Respiratory failure, Cerebral atrophy |
ORPHA:79327 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Death i... |
OMIM:618426 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Hamartoma of tongue,... |
OMIM:174300 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical... |
ORPHA:2671 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Cyanotic episode, Simplified gyral pattern, Lissencephaly |
ORPHA:284417 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Bilateral cryptorchidism, Abnormality of neuro... |
ORPHA:2754 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Atrial septal defect, Hypot... |
ORPHA:567 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome... |
OMIM:613603 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal heart valve morphology, Periventricular heterotopia, Pyloric steno... |
ORPHA:98892 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... |
OMIM:220110 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Gastroesophageal reflux, Holoprosence... |
ORPHA:2162 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Enterocolitis |
OMIM:142623 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cleft palate |
ORPHA:2216 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormal mitral valve morphology, Optic atrophy, Abnormality of neuronal... |
ORPHA:192 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal substantia nigra mor... |
ORPHA:79139 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Simplified gyral pattern, Acrocyanosis, Dystonia, Failure to thrive, Intention tremor |
OMIM:614407 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic ... |
ORPHA:818 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal brainstem morphol... |
ORPHA:370997 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... |
OMIM:606353 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Respiratory distress |
OMIM:271225 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Absence of pubertal deve... |
ORPHA:314679 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, Mitral valve prolapse, Cerebel... |
OMIM:616202 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnor... |
OMIM:618652 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal ste... |
OMIM:154400 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Respiratory failure |
ORPHA:75840 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Immunodeficiency 54 |
|
Respiratory failure, Failure to thrive, Respiratory insufficiency |
OMIM:609981 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre... |
ORPHA:747 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle... |
ORPHA:468631 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr... |
OMIM:603387 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Cerebral atrophy, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, ... |
OMIM:221770 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu... |
ORPHA:653 |
Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi... |
OMIM:616648 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Aqueductal stenosis, Hypothyroidism, Hydro... |
ORPHA:58 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue... |
OMIM:263520 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Tremor, Dyspnea, Patent ductus arteriosus, Optic atrophy, Res... |
OMIM:610505 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Atrial septal d... |
OMIM:618974 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migra... |
ORPHA:261236 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate |
ORPHA:894 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, Chiari malformation, Hi... |
ORPHA:93259 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary ... |
OMIM:614866 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... |
OMIM:620296 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormality of ... |
ORPHA:314621 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyria, Agen... |
ORPHA:255138 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Respiratory failure, Failure to thrive |
OMIM:618329 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Joint contracture of the hand, Aganglionic megacolon, Camptodactyly of finger |
OMIM:148820 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Apl... |
ORPHA:175 |
Congenital Heart Block |
|
Pleural effusion, Patent ductus arteriosus, Cyanosis, Crackles |
ORPHA:60041 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:99852 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology |
ORPHA:897 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Lobul... |
OMIM:616300 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon |
OMIM:619465 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Opti... |
ORPHA:496641 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left heart, Joint contracture ... |
OMIM:619562 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... |
ORPHA:779 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Neonatal insulin-dependent diabetes mellitus, Cerebellar hypoplasia, Apla... |
ORPHA:65288 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hydrocephalus, Optic atrophy, Chiari type I malformation, Cerebellar... |
OMIM:618476 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Hiatus hernia, Aqueductal stenosis, Abnormality of neuronal migration, P... |
ORPHA:2065 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargemen... |
OMIM:619424 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough, Failure to thrive |
ORPHA:99931 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure, Cerebral cortical atrophy |
ORPHA:1194 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, H... |
OMIM:619833 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Abnormal heart morphology, Chiari type I malformation, Macro... |
ORPHA:798 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... |
ORPHA:101030 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased... |
OMIM:608836 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis... |
ORPHA:275872 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis |
ORPHA:449285 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Upper limb muscle hypoplasia, Ventricular septal defect, Aganglionic megacolon, Fa... |
OMIM:607323 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral wrist flexion contracture, Cleft palate,... |
ORPHA:97297 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Leigh Syndrome |
|
Cerebellar atrophy, Optic atrophy, Choreoathetosis, Athetosis, Respiratory failure, Gliosis, Dyst... |
ORPHA:506 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Hydrocephalus, Myelomeningocel... |
OMIM:311200 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi... |
OMIM:616201 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus |
OMIM:250800 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilatory defect, Respi... |
ORPHA:26791 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon |
ORPHA:1438 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cryptorchidism, ... |
OMIM:620024 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Periventricular heterotopia, Cryptorchidism, D... |
ORPHA:261250 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Apnea, Respiratory failure |
OMIM:617301 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Cr... |
ORPHA:464311 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... |
ORPHA:1120 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Aqueductal stenosis, Cryptorchidism, Patent ductus a... |
ORPHA:138 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal ref... |
ORPHA:904 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus,... |
ORPHA:264450 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, ... |
OMIM:616975 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respi... |
OMIM:252010 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Hepatomegaly, Prolonged neonatal jaundice, Molar toot... |
OMIM:612291 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... |
ORPHA:564 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipid... |
OMIM:209900 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai... |
ORPHA:98905 |
Dravet Syndrome |
|
Cyanotic episode, Global brain atrophy, Action tremor |
ORPHA:33069 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Tetralogy of Fallot,... |
ORPHA:2919 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Patent ductus arteriosus, Tachypnea, Hypoxemia, Failure to t... |
ORPHA:860 |
47,Xyy Syndrome |
|
Macroorchidism, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal... |
ORPHA:8 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Abnormality of the liver, Optic atrophy, Abnormality of neuronal m... |
ORPHA:44 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae |
OMIM:602473 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Hamartoma of tongue, Periventricular heterot... |
ORPHA:434179 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Partial agenesis of the corpus callosum, Macro... |
OMIM:619775 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration |
ORPHA:2518 |
Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Optic atrophy, Flexio... |
OMIM:147791 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Aqueductal stenosis, Cleft palate, Chiari malformation, High palate, Anal... |
ORPHA:93260 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft |
OMIM:617542 |
Metatropic Dysplasia |
|
Peripheral axonal neuropathy, Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Protruding tongue, Flexion contracture... |
ORPHA:98889 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Type II diabetes mellitus,... |
ORPHA:870 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Patent ductus arteriosus, Cyanosis, Opisthotonus |
ORPHA:3304 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility, Weight loss |
ORPHA:3226 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cereb... |
OMIM:619479 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Pneumothorax, Cerebral atrophy, Opisthotonus, Choreoathetosis, Respiratory fa... |
ORPHA:445038 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon |
ORPHA:2151 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Hiatus hernia, Pachygyria, Precocious puberty, Partia... |
OMIM:304050 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... |
ORPHA:90051 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Smooth tongue, Abnormal autonomic ne... |
ORPHA:1051 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... |
ORPHA:3440 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry... |
ORPHA:1600 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Respiratory failure, Facial palsy |
ORPHA:171430 |
Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, ... |
ORPHA:1666 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Cerebral atrophy, Respiratory failure, Stillbirth |
OMIM:259720 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Telangiectasia, Anteriorly placed anus, High palate,... |
ORPHA:247262 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Optic nerve hypoplasia, Periventricular nodular heterotopia, Cryptorchidism, Cleft... |
OMIM:603671 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon |
ORPHA:261222 |
Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Torticollis, Diabetes mellitus, Congestive heart failure, Ab... |
ORPHA:48818 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Intestinal malrotation, Cryptorchidism, Hydrocephalus... |
OMIM:305450 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Splenomegaly |
OMIM:617767 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Periventricular heterotopia... |
OMIM:618870 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Cyanosis, Apnea, Opisthotonus, Choreoathetosis |
OMIM:619580 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Ventricul... |
ORPHA:1860 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Portal fibrosis |
OMIM:619113 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Abnormal mesentery morphology, Opt... |
ORPHA:3463 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Spina bifida, Cryptorchidism, Pyloric stenosis... |
ORPHA:2308 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... |
OMIM:619534 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Splenomegaly, Intestinal malrotation |
ORPHA:3035 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Gray matter heterotopia, Hamartoma of tongue, Ventriculomegaly |
OMIM:617563 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Small for gestational age |
OMIM:618804 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the ab... |
ORPHA:2604 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Flexion contracture, Optic atrophy, Macroglossia, Gastroes... |
ORPHA:847 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... |
ORPHA:555874 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Aortic valve calcifica... |
ORPHA:2072 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension |
OMIM:263570 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Weight loss, Central nervous syste... |
ORPHA:183 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased serum insulin-like growth fa... |
OMIM:619476 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Panc... |
ORPHA:892 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency |
OMIM:613845 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Death in childhood, Respiratory fa... |
OMIM:618278 |
Pagod Syndrome |
|
Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Abnormality of the spl... |
ORPHA:991 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Small for gestational age, Cerebral atrophy, Respiratory failure, Death in childhood, Failure to ... |
OMIM:618252 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Failure to thrive, Small for gestational age, Respiratory insufficiency |
OMIM:609015 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Ileus, Aganglionic megacolon |
OMIM:300352 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... |
ORPHA:209905 |
Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Cleft palate, Hypertension, Chiari malformation, Neonatal ... |
OMIM:308205 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus |
ORPHA:335 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophage... |
OMIM:227646 |
Haddad Syndrome |
|
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp... |
ORPHA:453499 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Periventricular heterotopia, Cryptor... |
OMIM:618929 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Myopathy, Pheochromocytoma, High... |
OMIM:162300 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Aganglionic megacolon |
ORPHA:52503 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of neuronal migration |
ORPHA:2204 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent du... |
OMIM:235730 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Aplasi... |
ORPHA:2462 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Abnorma... |
ORPHA:268882 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Cyanosis |
ORPHA:3309 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblastoma, Hypothyroidism, He... |
ORPHA:116 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Flexion contrac... |
ORPHA:261537 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Hydroce... |
ORPHA:505248 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pylor... |
OMIM:610443 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Simplified gyral pattern, Neonatal death, Cleft palate |
OMIM:251230 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy, Cerebral cortical atrophy |
ORPHA:488627 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Flexion contrac... |
ORPHA:261552 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Perim... |
OMIM:611376 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Agenesis of corpus ... |
ORPHA:1606 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestina... |
ORPHA:2152 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi... |
ORPHA:2912 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Periventricular heterotopia, Congenital macroorchidism, Mitral valv... |
OMIM:300624 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Micro... |
OMIM:210710 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdom... |
OMIM:612289 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilato... |
ORPHA:2905 |
Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Cerebral atrophy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Boucher-Neuhauser Syndrome |
|
Spinocerebellar atrophy, Intention tremor, Cerebellar atrophy, Abnormal upper motor neuron morpho... |
OMIM:215470 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Hypertension, Abnormal autonomic nervous system physiology, Hypote... |
ORPHA:93256 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Atypical or ... |
OMIM:277900 |
Tetrasomy 18P |
|
Achalasia, Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achille... |
OMIM:616263 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... |
ORPHA:420741 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Cartilage-Hair Hypoplasia |
|
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption |
OMIM:250250 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Renal tubular epithelial necros... |
ORPHA:31826 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, N... |
ORPHA:555877 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop... |
ORPHA:3412 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Ventriculomegaly, Limb hypertonia |
OMIM:620306 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Ventricular septal defect, Adre... |
OMIM:214100 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arthrogryposis multiplex ... |
ORPHA:163746 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Congestive heart failure, Dilated cardiomyopathy, Cleft palate, Car... |
OMIM:242840 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, High palate, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Diabetes mellitus, Optic nerve hypoplasia, Secundum atrial septal ... |
OMIM:609069 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Precocious puberty, High, narrow palate, Gray matter heterotopia, High... |
OMIM:619312 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... |
ORPHA:35689 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo... |
ORPHA:531151 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Large for gestational age, Patent ductus arteriosus, Respiratory failure, Glios... |
OMIM:300868 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3426 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, High palate |
ORPHA:93258 |
Piebald Trait |
|
Aganglionic megacolon |
OMIM:172800 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Abnormal neuron morphology, Precocious puberty, Abnormality of neuronal migration, ... |
ORPHA:163681 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... |
ORPHA:293987 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula... |
OMIM:236680 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Ileal atresia, Cryptorchidism, Dysplastic corpus callosum, Gray ma... |
OMIM:618820 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Gastroesophageal refl... |
ORPHA:2896 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Failure to thrive |
ORPHA:88618 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:746 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Piebaldism |
|
Aganglionic megacolon |
ORPHA:2884 |
Tarp Syndrome |
|
Failure to thrive, Cyanosis, Optic atrophy, Apnea |
ORPHA:2886 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Optic atrophy, Cough, Failure to thrive |
ORPHA:137675 |
Sotos Syndrome |
|
Hip contracture, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ventricular septal defect, ... |
ORPHA:821 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Perisylvian polymicrogyria, Giant somatosensory evoked potentials |
ORPHA:268943 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Aganglionic megacolon, Tetralogy of Fallot |
ORPHA:959 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Polymicrogyria, Agyria |
OMIM:616538 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Respiratory failure, Weight loss |
ORPHA:679 |
Man1B1-Cdg |
|
Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic... |
ORPHA:1199 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:261337 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Hypoxemia, Respirator... |
ORPHA:2020 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis |
ORPHA:1788 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys... |
OMIM:209880 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... |
ORPHA:352665 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, Gray matter heterotopia, Joint contractu... |
OMIM:247200 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... |
ORPHA:699 |
Doors Syndrome |
|
Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Sirenomelia, Spina bifida occulta,... |
ORPHA:79500 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of neuronal migration, Narrow palate... |
ORPHA:2063 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... |
OMIM:155310 |
Neurofibromatosis, Type I |
|
Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytom... |
OMIM:162200 |
Bloom Syndrome |
|
Small for gestational age, Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory ... |
ORPHA:125 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, High palate, Periventricular heterotopia |
OMIM:614105 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Chiari type I malfo... |
ORPHA:466791 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Jaundice, Cerebral atrophy, Respiratory insufficiency, Respirat... |
ORPHA:646 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Aganglionic megacolon |
ORPHA:3339 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Acrocyanos... |
OMIM:223900 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, High, narrow ... |
ORPHA:96149 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Tachypnea, Respiratory insufficiency, Cerebral atrophy, Respiratory fa... |
OMIM:613658 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, High, narrow palate, Abnormality of neuronal migration, Gray matter ... |
ORPHA:75857 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia |
OMIM:601374 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Dysphagia |
OMIM:617008 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A... |
ORPHA:2255 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Gliosis, Abnormal brainstem morphology |
ORPHA:88619 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest |
OMIM:619879 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Aganglionic megacolon, Malabsorption |
ORPHA:935 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Bicuspid aortic valve, Ventricular septal de... |
ORPHA:84064 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Feingold Syndrome |
|
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... |
ORPHA:1305 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... |
OMIM:187300 |
Nijmegen Breakage Syndrome |
|
Cachexia, Recurrent pneumonia, Abnormality of neuronal migration, Respiratory failure, Cutaneous ... |
ORPHA:647 |
Costello Syndrome |
|
Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Vestibular schwannoma, Respiratory fai... |
OMIM:218040 |
Double Outlet Left Ventricle |
|
Failure to thrive, Patent ductus arteriosus, Cyanosis, Tachypnea |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arteriosus, Dyspnea, Recurrent pneumonia,... |
ORPHA:980 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Camptodactyly of finger, Cryptorchidism, Cerebellar hypoplasia, Agenesis o... |
ORPHA:2273 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Diabetes mellitus, Gastritis, Epistaxis, Hematemesis, ... |
ORPHA:73263 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure |
ORPHA:533 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... |
ORPHA:2470 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Fucosidosis |
|
Failure to thrive, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Knee flexion contracture, Wrist... |
OMIM:618733 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Anteriorly placed anus, Gray matter heter... |
OMIM:601390 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Patent ductus arteriosus, Dyspnea, Wheezing, U... |
ORPHA:141127 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... |
ORPHA:79404 |
Primary Hyperoxaluria |
|
Optic disc pallor, Cutis marmorata, Optic atrophy, Acrocyanosis, Failure to thrive |
ORPHA:416 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Congenital diaphragmatic herni... |
OMIM:135900 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Patent ductus arteriosus, Pulmonary arterial hypertension, Failure to thrive, Exertiona... |
ORPHA:99050 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy |
ORPHA:1764 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Pancreatic cyst... |
ORPHA:284 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy |
OMIM:259900 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Patent ductus arteriosus after birth at ter... |
ORPHA:500150 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Respiratory ins... |
ORPHA:273 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Cerebellar vermis hypoplasia, Ventricular septal defect, Shoulder muscle hyp... |
OMIM:274000 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,... |
ORPHA:97214 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... |
ORPHA:231160 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Abnormality of neuronal migration, Holoprosencephaly, Tetra... |
ORPHA:3186 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon |
OMIM:613266 |
Myhre Syndrome |
|
Small for gestational age, Patent ductus arteriosus, Obesity, Respiratory insufficiency, Respirat... |
OMIM:139210 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Reduced number of intrahepatic bile ducts, Gray... |
OMIM:614887 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Cyanosis, Apnea |
OMIM:261740 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Weigh... |
ORPHA:48435 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Abetalipoproteinemia |
|
Respiratory failure, Failure to thrive |
ORPHA:14 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Hypertension, Inflammation of t... |
OMIM:232220 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Aganglionic megacolon, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Gastric ulcer, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Large for gestational age, Spinal dysraphism, Restrictive ventilatory defect, Respir... |
ORPHA:96334 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough... |
OMIM:233450 |
Tuberous Sclerosis Complex |
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Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Generali... |
ORPHA:805 |
Van Maldergem Syndrome 2 |
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Cryptorchidism, Subcortical band heterotopia, Anteriorly placed anus, Gray matter heterotopia, Hi... |
OMIM:615546 |
Charge Syndrome |
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Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Bone Marrow Failure Syndrome 3 |
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Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
Autosomal Dominant Polycystic Kidney Disease |
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Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hypertension, Pituitary growth... |
ORPHA:730 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Erythema, Respiratory failure, Failure to thrive |
ORPHA:2556 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormal upper motor neuron morphology, Resting tremor, Corpus callosum atrophy |
OMIM:601162 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Optic neuropathy, Sudden cardiac death, Tendon xanthomato... |
ORPHA:391665 |
Aicardi-Goutières Syndrome |
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Dystonia, Cutis marmorata, Tremor, Degeneration of the striatum, Brain atrophy, Prolonged neonata... |
ORPHA:51 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Severe fail... |
ORPHA:740 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent gallbladder, Diabetes insipidus, Exocrine pancreatic insufficiency, Lobar holoprosencephal... |
OMIM:618500 |
Dermatomyositis |
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Telangiectasia of the skin, Erythema, Respiratory insufficiency, Weight loss, Acrocyanosis, Pulmo... |
ORPHA:221 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Alg11-Cdg |
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Gray matter heterotopia, Limb hypertonia |
ORPHA:280071 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato... |
OMIM:557000 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Semilobar holoprosencephaly, Hi... |
ORPHA:556955 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia, Protruding tongue |
OMIM:618797 |
Genitopatellar Syndrome |
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Hip contracture, Anal stenosis, Ventricular septal defect, Periventricular heterotopia, Cryptorch... |
OMIM:606170 |
Arteriosclerosis, Severe Juvenile |
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Hypertension, Gastric ulcer, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Rothmund-Thomson Syndrome, Type 2 |
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Cryptorchidism, Telangiectasia, Anteriorly placed anus, High palate, Hypogonadism, Annular pancreas |
OMIM:268400 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, P... |
OMIM:193300 |
Microphthalmia, Syndromic 1 |
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Bicuspid aortic valve, Aganglionic megacolon, High, narrow palate, Cryptorchidism, Optic disc col... |
OMIM:309800 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged lacrimal glands... |
ORPHA:449432 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Hip contracture, Cleft palate, Knee flexion contracture, Annular pancreas, Ankyloglossia |
ORPHA:488642 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure |
ORPHA:731 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis |
OMIM:616749 |
Pancreatitis, Hereditary |
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Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
Fraser Syndrome 2 |
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Respiratory failure |
OMIM:617666 |
Mismatch Repair Cancer Syndrome 1 |
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Rhabdomyosarcoma, Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the s... |
OMIM:276300 |
Otopalatodigital Syndrome, Type Ii |
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Respiratory failure, Stillbirth, Respiratory insufficiency, Spina bifida |
OMIM:304120 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas... |
ORPHA:93111 |
Classical Ehlers-Danlos Syndrome |
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Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... |
ORPHA:287 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Respiratory failure |
ORPHA:2636 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Truncus Arteriosus |
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Patent ductus arteriosus, Cyanosis, Tachypnea |
ORPHA:3384 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy |
ORPHA:51608 |
Proteus Syndrome |
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Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Sudden cardiac death, Enlarged po... |
ORPHA:744 |
Hypermobile Ehlers-Danlos Syndrome |
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Decreased nerve conduction velocity, Acrocyanosis, Apnea |
ORPHA:285 |
Coffin-Lowry Syndrome |
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Acrocyanosis, Cutis marmorata, Decreased body weight |
OMIM:303600 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, High palate |
OMIM:618918 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Erythroleukemia, Familial, Susceptibility To |
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Splenomegaly, Hepatomegaly |
OMIM:133180 |