Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Juvenile Huntington Disease |
|
Dystonia, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Progressive cerebellar ataxia, A... |
ORPHA:248111 |
Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
Huntington Disease-Like 2 |
|
Dystonia, Chorea, Weight loss, Gait disturbance |
ORPHA:98934 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seiz... |
OMIM:245570 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Weight loss, Seizure, Gait ataxia |
OMIM:612075 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... |
OMIM:619191 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic ataxia, Diplopia |
ORPHA:53583 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Ataxia |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Bilateral tonic-clonic seizure |
OMIM:619639 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Visual loss, Cereb... |
OMIM:609056 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Falls, Chin myoclonus, Generalized myoclonic seizure, Generalized... |
ORPHA:139426 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... |
ORPHA:2382 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure, Micropenis, Hypergonadotropic hypogonadism, Decreased te... |
OMIM:601217 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized ... |
ORPHA:330050 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myopia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Dysmetria, Myocl... |
OMIM:617810 |
Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis |
OMIM:104290 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Weight loss, Slender build, Seizure, Ataxia |
OMIM:613662 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... |
ORPHA:725 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Broad-based gait, Focal-ons... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Ataxia, Gait ataxia |
OMIM:618093 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Cerebral visual impairment, Seizure, Difficulty walking |
ORPHA:101685 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Abnormality of vision, Ataxia, Blindn... |
ORPHA:726 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Bilateral tonic-clonic s... |
ORPHA:98818 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia |
OMIM:619065 |
Huntington Disease-Like 2 |
|
Dystonia, Chorea, Weight loss, Bradykinesia |
OMIM:606438 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Bradykinesia, Ataxia, Generalized myoclonic seizure, My... |
OMIM:617836 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizur... |
ORPHA:178469 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Chorea, Focal impaired awareness seizure, Se... |
ORPHA:382 |
Huntington Disease |
|
Gait disturbance, Dystonia, Gait imbalance, Chorea, Decreased body mass index, Weight loss, Myocl... |
ORPHA:399 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Myopia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Generalized myoclonic seizure,... |
ORPHA:464282 |
Riboflavin Transporter Deficiency |
|
Cachexia, Myoclonus, Seizure, Ataxia, Hypogonadism, Color vision defect, Visual impairment |
ORPHA:97229 |
Cortical Malformations, Occipital |
|
Visual loss, Bilateral tonic-clonic seizure |
OMIM:614115 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seizure, Myoclonus, Focal i... |
ORPHA:485350 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... |
ORPHA:1916 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Weight loss, Seizure, Inability to walk, Blindness, Generalized dystonia, Tip-t... |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Inability... |
ORPHA:561854 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Moynahan Syndrome |
|
Seizure, Cachexia, Hypogonadism |
ORPHA:2574 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Gait disturbance, Impaired vibratory sensation, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Gait disturbance, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic se... |
ORPHA:168491 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impaired tandem gait, Seizure |
OMIM:300423 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:86909 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal emotio... |
ORPHA:208447 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Myopia, Bilateral tonic-clonic seizure, Dysmetria, Visual impairment, Seizure, Status epilepticus... |
ORPHA:529665 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Hypermetropia, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypermetropia, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Gait ataxia |
ORPHA:488635 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Seizure, Inability to walk, Blindness, Lethargy |
ORPHA:314911 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Cerebral visual im... |
OMIM:619616 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Bilateral tonic-clonic seizure, Progressive visual loss, Focal impaired awareness seizure, Sponta... |
ORPHA:1947 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Familial Infantile Myoclonic Epilepsy |
|
Gait disturbance, Simple febrile seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Seizure... |
ORPHA:352582 |
Pelizaeus-Merzbacher Disease |
|
Gait disturbance, Failure to thrive in infancy, Cachexia, Dystonia, Choreoathetosis, Seizure, Ata... |
ORPHA:702 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Bilateral tonic-clonic seizure, Dysmetria, Inability to walk, Atonic seizure, U... |
ORPHA:93952 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Focal impaired awareness seizure, Visual impairment, Bilateral tonic-clonic seizure |
ORPHA:208441 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Dysdiadoc... |
OMIM:614487 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Failure to thrive, Bilateral tonic-clonic seizure |
OMIM:616281 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Ataxia, Status epilepticus, Generalized m... |
OMIM:271980 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
Flynn-Aird Syndrome |
|
Myopia, Cachexia, Impaired pain sensation, Seizure, Ataxia, Visual impairment |
ORPHA:2047 |
Isaac Syndrome |
|
Distal sensory impairment, Weight loss |
ORPHA:84142 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure |
OMIM:619301 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Sarcosinemia |
|
Ataxia, Congenital blindness, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Central Diabetes Insipidus |
|
Failure to thrive, Seizure, Weight loss, Lethargy |
ORPHA:178029 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Chorea, Weight loss, Bradykinesia, Seizure, Gait ataxia |
ORPHA:157941 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:98293 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... |
ORPHA:79137 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Seizure, Ataxia, Cachexia, Visual impairment |
ORPHA:1933 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Inability to walk, Cryptorchidism, Premature pubarche |
ORPHA:457205 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Reduced visual acuity, Loss of ability to walk, Ataxia, Seizure, Generalized myoclon... |
ORPHA:3208 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure, Chorea, Waddling gait, Truncal ataxia, Difficulty walking |
ORPHA:369840 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure |
OMIM:619302 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... |
ORPHA:64743 |
Fatal Familial Insomnia |
|
Myoclonus, Ataxia, Diplopia, Weight loss |
OMIM:600072 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Lethargy |
ORPHA:30925 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... |
OMIM:614559 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... |
ORPHA:3006 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
Christianson Syndrome |
|
Dystonia, Cachexia, Generalized-onset seizure, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Chorea, Seizure, Ataxia, Hyperactivity |
ORPHA:52503 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis, Gener... |
ORPHA:313772 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Bilateral tonic-clonic seizure, Loss of ambulation, Visual field defect, Progressive gait ataxia,... |
ORPHA:329308 |
Attrv30M Amyloidosis |
|
Weight loss, Vitreous floaters, Impotence |
ORPHA:85447 |
Holocarboxylase Synthetase Deficiency |
|
Seizure, Ataxia, Weight loss, Lethargy |
ORPHA:79242 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Cachexia, Arm dystonia, Axial dystonia, Chorea, Oromandibular dystonia, Amyotrophic lat... |
ORPHA:300605 |
Oromandibular Dystonia |
|
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, Blepharospa... |
ORPHA:93958 |
Oculopharyngodistal Myopathy |
|
Loss of ability to walk, Weight loss, Difficulty walking |
ORPHA:98897 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Visual loss, Bilateral tonic-clonic ... |
OMIM:254780 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Small for gestational age, Bilater... |
ORPHA:289266 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Failure to thrive, Focal impaired awareness seizure, Cerebral vis... |
ORPHA:488613 |
Gerstmann-Straussler Disease |
|
Weight loss, Myoclonus, Bradykinesia, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:137440 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Familial Colorectal Cancer Type X |
|
Gait disturbance, Paresthesia, Weight loss, Visual field defect, Uterine neoplasm, Attention defi... |
ORPHA:440437 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Lafora Disease |
|
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Se... |
ORPHA:501 |
Lynch Syndrome |
|
Gait disturbance, Ovarian neoplasm, Paresthesia, Weight loss, Visual field defect, Attention defi... |
ORPHA:144 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Bilateral tonic-clonic seizure, Seizure, Micropenis, Overweight, Decreased test... |
ORPHA:457240 |
Angelman Syndrome |
|
Myopia, Precocious puberty in females, Hypermetropia, Bilateral tonic-clonic seizure, Infantile s... |
ORPHA:72 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Seizure, Dystonia, Cachexia, Visual impairment |
OMIM:618186 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awar... |
OMIM:619428 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Small for gestational age, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, A... |
ORPHA:79243 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss |
OMIM:275000 |
Peritoneal Cystic Mesothelioma |
|
Weight loss, Menorrhagia, Metrorrhagia, Dyspareunia |
ORPHA:168816 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Rett Syndrome |
|
Dystonia, Cachexia, Seizure, Truncal ataxia, Gait ataxia, Gait apraxia |
OMIM:312750 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tonic seizure, Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired... |
OMIM:619580 |
Gm1 Gangliosidosis |
|
Dystonia, Gait disturbance, Failure to thrive, Weight loss, Abnormality of the scrotum, Seizure, ... |
ORPHA:354 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic spasms, Bilateral tonic-clonic seizure, Large central visual field defect, Visual loss,... |
ORPHA:79264 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Seizure, Focal-onset seizure... |
ORPHA:91131 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... |
ORPHA:42 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:618856 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Torticollis, Weight loss, Metrorrhagia, Seizure, Precocious puberty, Uterine ne... |
ORPHA:370348 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Renpenning Syndrome |
|
Hypospadias, High hypermetropia, Cachexia, Seizure, Decreased testicular size |
ORPHA:3242 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Myoclonic seizure, Foc... |
ORPHA:363558 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Myoclonus, Blepharospasm, Bilateral tonic-clonic seizure |
OMIM:607876 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Lethargy |
OMIM:143880 |
Perry Syndrome |
|
Dystonia, Weight loss, Bradykinesia, Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Hyperactivity, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300558 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss, Myoclonus |
OMIM:256700 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Bilateral tonic-clonic seizure, Spastic ataxia, Somatic sensory dysfunction |
ORPHA:199354 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Paresthesia, Hypogonadotropic hypogonadism, Weight loss, Hypergonadotropic hypogonadism |
ORPHA:298 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to th... |
ORPHA:79351 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
X-Linked Non-Syndromic Intellectual Disability |
|
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Obesity, Attention deficit hy... |
ORPHA:777 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with gene... |
ORPHA:98795 |
Tsh-Secreting Pituitary Adenoma |
|
Progressive visual loss, Abnormality of the menstrual cycle, Decreased female libido, Seizure, Di... |
ORPHA:91347 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
OMIM:609800 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Seizure, Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Takayasu Arteritis |
|
Seizure, Weight loss, Amaurosis fugax |
ORPHA:3287 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Amblyopia, Focal impaired awareness s... |
ORPHA:480864 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Wilson Disease |
|
Failure to thrive, Weight loss, Abnormality of the menstrual cycle, Difficulty walking, Increased... |
ORPHA:905 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cerebral visual impairment, Cachexia |
ORPHA:1389 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Seizure, Hyperactivity, Hypogonadism, Broad-based gait, Obesity, Hypoplasia of penis, D... |
ORPHA:85293 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss, Visual field defect, Spontaneous abortion, Seizure |
ORPHA:71493 |
Early Infantile Epileptic Encephalopathy |
|
Generalized clonic seizure, Dystonia, Febrile seizure (within the age range of 3 months to 6 year... |
ORPHA:1934 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Ataxia, Focal-onset... |
ORPHA:395 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... |
ORPHA:465508 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Abnormal prostate morphology, Vaginal neoplasm, Diplopia, Prostate cancer, Uterine n... |
ORPHA:2126 |
Developmental And Epileptic Encephalopathy 95 |
|
Gait disturbance, Bilateral tonic-clonic seizure, Multifocal seizures, Cerebral visual impairment... |
OMIM:618143 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Cerebral visual impairment, Bilateral tonic-clonic seizure, Broad-based gait |
OMIM:616351 |
Liposarcoma |
|
Weight loss, Paresthesia |
ORPHA:69078 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure |
ORPHA:275864 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Cerebral visual impa... |
ORPHA:369929 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Weight loss, Shuffling gait, Bradykinesia, Akinesia, Diplopia |
ORPHA:411602 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Failure to thrive, Cerebral visual impairment, Ataxia, Inability ... |
ORPHA:481152 |
Giant Cell Arteritis |
|
Paresthesia, Weight loss, Visual field defect, Visual loss, Ataxia, Amaurosis fugax, Diplopia, Vi... |
ORPHA:397 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Xfe Progeroid Syndrome |
|
Cachexia, Visual impairment |
OMIM:610965 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Weight loss, Seizure, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder |
ORPHA:251071 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... |
ORPHA:101330 |
Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizure, Generalized to... |
OMIM:612164 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Scotoma, Seizure, Ataxia, ... |
ORPHA:79241 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Slender build, Myoclonus, Seizure, Status epilepticus, Micropenis... |
ORPHA:364028 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Infantile spasms, Cerebr... |
ORPHA:457351 |
Infantile Krabbe Disease |
|
Cachexia, Failure to thrive, Myoclonus, Hyperesthesia, Visual loss, Seizure, Generalized myocloni... |
ORPHA:206436 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia, Ovarian neoplasm, Testicular neoplasm |
ORPHA:83469 |
Malignant Atrophic Papulosis |
|
Weight loss, Seizure, Pain insensitivity, Amaurosis fugax, Diplopia |
ORPHA:679 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure, Hydrocele testis |
OMIM:618832 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Azoospermia, Failure to thrive, Weight loss, Precocious puberty, C... |
ORPHA:361 |
Eosinophilic Fasciitis |
|
Weight loss, Paresthesia |
ORPHA:3165 |
Sandhoff Disease |
|
Impaired temperature sensation, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Blindn... |
OMIM:268800 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy |
ORPHA:388 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal sensory impairment, Weight loss, Cachexia, Slender build |
OMIM:603041 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Failure to thrive, Weight loss, Seizure, Ataxia |
OMIM:212750 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Nocturnal seizures, Attention deficit hypera... |
ORPHA:98784 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss |
ORPHA:2221 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation, Small for gestati... |
ORPHA:453510 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Ring Chromosome 10 Syndrome |
|
Seizure, Cachexia |
ORPHA:1438 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Bilateral tonic-clonic seizure, Seizure, Ataxia, Inability to walk, Retractile testis, Generalize... |
OMIM:617193 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral visual impairment, Athetosis, Bilateral tonic-clonic seizure |
OMIM:615474 |
Whipple Disease |
|
Cachexia, Myoclonus, Erectile dysfunction, Seizure, Ataxia |
ORPHA:3452 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Failure to thrive, Infantile spasms, Ataxia, Hyper... |
OMIM:300912 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormal vagina morphology, Abnormality of m... |
ORPHA:813 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Bilateral tonic-clonic seizure, Chorea, Ataxia, Micropenis, Focal-onset seizure, Crypt... |
OMIM:619435 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Visual loss, Weight loss |
ORPHA:3226 |
Renal Nutcracker Syndrome |
|
Infertility, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Varicocele |
ORPHA:71273 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age |
ORPHA:424 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal lower motor neuron morphology |
ORPHA:93941 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Failure to thrive, Weight loss, Seizure, Micropenis |
OMIM:619487 |
Bilateral Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar ataxia associated with quadrupedal g... |
ORPHA:268940 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Bilateral tonic-clonic seizure, Failure to thrive, Weight loss, Ataxia, Generalized myoclonic sei... |
ORPHA:99885 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss, Seizure, Premature ovarian insufficiency, Lethargy |
ORPHA:199299 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... |
ORPHA:456312 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Aplasia of the uterus, Precocious puberty in females, Oligomenorrhea, Fused labia majora, Long pe... |
ORPHA:90794 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Seizure, Cachexia, Severe failure to thrive, Hyperesthesia |
ORPHA:371364 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Beta-Ketothiolase Deficiency |
|
Seizure, Ataxia, Weight loss |
ORPHA:134 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Cryptorchidism |
ORPHA:217346 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Cachexia |
ORPHA:1979 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Glossopharyngeal Neuralgia |
|
Seizure, Weight loss, Dysesthesia |
ORPHA:221098 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... |
ORPHA:85450 |
Cronkhite-Canada Syndrome |
|
Seizure, Cachexia |
ORPHA:2930 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Myoclonus, Seizure, Ataxia, Lethargy |
ORPHA:20 |
Floating-Harbor Syndrome |
|
Hypospadias, Hypermetropia, Small for gestational age, Congenital posterior urethral valve, Seizu... |
ORPHA:2044 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Myopia, Failure to thrive in infancy, Gait disturbance, Hypermetropia, Febrile seizu... |
ORPHA:268261 |
Poems Syndrome |
|
Paresthesia, Weight loss, Hyperesthesia, Erectile dysfunction, Hypogonadism |
ORPHA:2905 |
Melas |
|
Gait disturbance, Bilateral tonic-clonic seizure, Failure to thrive, Hypogonadotropic hypogonadis... |
ORPHA:550 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Ataxia, Weight loss, Visual impairment |
ORPHA:35687 |
Behçet Disease |
|
Gait disturbance, Paresthesia, Weight loss, Seizure, Ataxia, Blindness, Orchitis, Photophobia |
ORPHA:117 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Chorea, Seizure, A... |
ORPHA:255210 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Diplopia, Cachexia |
ORPHA:220295 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Weight loss |
ORPHA:99819 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Myopia, Failure to thrive, Weight loss, Abnormality of the female genitalia, Vaginal neoplasm, Ut... |
ORPHA:1018 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), De... |
ORPHA:3044 |
African Trypanosomiasis |
|
Impaired proprioception, Gait disturbance, Infertility, Paresthesia, Choreoathetosis, Weight loss... |
ORPHA:3385 |
Hermansky-Pudlak Syndrome |
|
Myopia, Amblyopia, Weight loss, Menometrorrhagia, Photophobia, Visual impairment |
ORPHA:79430 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Photophobia |
ORPHA:92050 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss, Photophobia, Visual impairment |
ORPHA:37 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Chorea, Focal motor... |
ORPHA:2131 |
Majeed Syndrome |
|
Failure to thrive, Weight loss, Cachexia |
ORPHA:77297 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure, Small for gestational age |
OMIM:619278 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Myopia, Febrile seizure (within the age range of 3 months to 6 years), Hypermetropia, Bilateral t... |
ORPHA:513456 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Seizure, Spontaneous abortion, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Myopia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... |
ORPHA:466943 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Stevens-Johnson Syndrome |
|
Weight loss, Dyspareunia, Abnormality of the urethra, Photophobia, Visual impairment |
ORPHA:36426 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Weight loss |
ORPHA:183 |
Microsporidiosis |
|
Abnormality of the endometrium, Cachexia, Prostatitis, Weight loss, Urethritis, Visual loss, Seiz... |
ORPHA:2552 |
Simple Cryoglobulinemia |
|
Seizure, Weight loss, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Choreoacanthocytosis |
|
Lingual dystonia, Bilateral tonic-clonic seizure, Loss of ambulation, Chorea, Weight loss, Oroman... |
ORPHA:2388 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Failure to thrive in infancy |
ORPHA:171876 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Myopia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
ORPHA:459070 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Alveolar Echinococcosis |
|
Seizure, Ataxia, Weight loss |
ORPHA:284 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Floating-Harbor Syndrome |
|
Hypospadias, Hypermetropia, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cry... |
OMIM:136140 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Truncal obesity, Visual loss, Abnormalit... |
ORPHA:466950 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Fanconi Anemia |
|
Hypospadias, Azoospermia, Weight loss, Decreased fertility in males, Abnormal preputium morpholog... |
ORPHA:84 |
Adrenocortical Carcinoma |
|
Abnormality of reproductive system physiology, Weight loss, Increased body weight |
ORPHA:1501 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss, Ovarian cyst |
ORPHA:400 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, High myopia, Slender build, Large for gestational age, Micropenis... |
ORPHA:457359 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Thymoma |
|
Prostate neoplasm, Weight loss |
ORPHA:99867 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Retrograde ejaculation, Varicocele, Impotence, Hydrocele testis |
ORPHA:49041 |
Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Weight loss, Visual loss, Abnormality of the urethra, Photophobia |
ORPHA:537 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Reduced sperm motility, Bicornuate uterus, Epididymal cyst, Hy... |
OMIM:137920 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Reduced visual acuity |
ORPHA:100085 |
Acute Promyelocytic Leukemia |
|
Weight loss, Metrorrhagia |
ORPHA:520 |
Riddle Syndrome |
|
Ataxia, Weight loss, Gait disturbance |
ORPHA:420741 |
Schwartz-Jampel Syndrome |
|
Myopia, Cachexia, Gait disturbance, Attention deficit hyperactivity disorder, Testicular torsion,... |
ORPHA:800 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Bifid scrotum, Bilateral tonic-clonic seizure, Small for gestational age, Micropenis... |
OMIM:257300 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia |
OMIM:175500 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Addison Disease |
|
Failure to thrive, Weight loss, Decreased female libido, Seizure, Primary testicular failure, Pre... |
ORPHA:85138 |
Cockayne Syndrome |
|
Gait disturbance, Cachexia, Hypermetropia, Progressive visual loss, Progressive gait ataxia, Seiz... |
ORPHA:191 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypospadias, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Blindness, Lethargy |
OMIM:252010 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Seizure, Weight loss, Decreased female libido |
ORPHA:95409 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Enlarged ovaries, Weight loss, Polycystic ovaries, Decreased body wei... |
ORPHA:2298 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Weight loss, Difficulty walking |
OMIM:164310 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Azoospermia, Bilateral tonic-clonic seizure with generalized onset, Broad-based gait, G... |
ORPHA:2072 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Granulomatosis With Polyangiitis |
|
Seizure, Weight loss, Visual impairment, Prostatitis |
ORPHA:900 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Von Hippel-Lindau Disease |
|
Visual loss, Epididymal cyst, Papillary cystadenoma of the epididymis |
ORPHA:892 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Al Amyloidosis |
|
Weight loss, Autonomic erectile dysfunction |
ORPHA:85443 |
Brucellosis |
|
Small for gestational age, Failure to thrive, Chorea, Weight loss, Epididymitis, Spontaneous abor... |
ORPHA:1304 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Camurati-Engelmann Disease |
|
Cachexia, Slender build, Hypogonadism, Ataxia, Waddling gait |
ORPHA:1328 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Hemeralopia |
ORPHA:309031 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Malt Lymphoma |
|
Weight loss, Visual impairment |
ORPHA:52417 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss, Gonadal calcification, Decreased fertility |
ORPHA:60025 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Seizure, Cachexia, Uterine neoplasm |
ORPHA:109 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Norrie Disease |
|
Cachexia, Uterine rupture, Failure to thrive, Erectile dysfunction, Seizure, Blindness, Cryptorch... |
ORPHA:649 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Familial Pancreatic Carcinoma |
|
Weight loss, Ovarian carcinoma |
ORPHA:1333 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Trisomy 18 |
|
Cryptorchidism, Cachexia, Abnormal morphology of female internal genitalia |
ORPHA:3380 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Marfan Syndrome |
|
Myopia, Cachexia, Slender build, Attention deficit hyperactivity disorder, Visual impairment |
ORPHA:558 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 1 |
|
Amenorrhea, Weight loss, Atypical absence status epilepticus, Impotence, Decreased male libido, L... |
ORPHA:652 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:447997 |
Reactive Arthritis |
|
Weight loss, Photophobia |
ORPHA:29207 |
Multiple Myeloma |
|
Weight loss, Paresthesia |
ORPHA:29073 |
Nocardiosis |
|
Seizure, Weight loss, Scotoma |
ORPHA:31204 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Weight loss, Cachexia |
ORPHA:275761 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Hutchinson-Gilford Progeria Syndrome |
|
Weight loss, Shuffling gait, Severe failure to thrive, Hypoplastic male external genitalia, Femal... |
ORPHA:740 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Parathyroid Carcinoma |
|
Weight loss, Uterine leiomyoma, Testicular neoplasm |
ORPHA:143 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Nijmegen Breakage Syndrome |
|
Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Igg4-Related Kidney Disease |
|
Weight loss, Urethritis, Prostatitis |
ORPHA:449395 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Sarcoidosis |
|
Hepatomegaly, Abnormal liver parenchyma morphology, Decreased liver function, Hepatic failure, Po... |
ORPHA:797 |
Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Photophobia, Blurred vision |
OMIM:181000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Weight loss, Truncal obesity, Abnormal libido, ... |
ORPHA:99889 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100077 |
Proteus Syndrome |
|
Myopia, Cachexia, Ovarian neoplasm, Macroorchidism, Long penis, Seizure, Enlarged polycystic ovar... |
ORPHA:744 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Freckled genitalia |
ORPHA:79076 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Stickler Syndrome |
|
Myopia, Cachexia, Slender build, Blindness, Visual impairment |
ORPHA:828 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss, Blindness |
ORPHA:79078 |
Chronic Graft Versus Host Disease |
|
Weight loss, Photophobia, Phimosis, Abnormal vagina morphology |
ORPHA:99921 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Hepatocellular Carcinoma |
|
Weight loss |
ORPHA:88673 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss, Photophobia, Visual impairment |
ORPHA:91500 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Weight loss |
OMIM:619381 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology |
ORPHA:79318 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Tay-Sachs Disease |
|
Seizure, Blindness |
OMIM:272800 |