Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Epilepsy, Benign Occipital |
|
Seizure, EEG abnormality |
OMIM:132090 |
Epilepsy, Reading |
|
Seizure, EEG abnormality |
OMIM:132300 |
Schizophrenia |
|
EEG abnormality |
OMIM:181500 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Short stature, Focal impaired awareness seizure, EEG with centrot... |
OMIM:245570 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Continuous Spikes And Waves During Sleep |
|
Focal hemiclonic seizure, Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... |
ORPHA:725 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Falls, Chin myoclonus, Generalized... |
ORPHA:139426 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:615369 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... |
ORPHA:2382 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Short stature, Bilateral tonic-cloni... |
OMIM:619639 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... |
OMIM:254800 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Ab... |
OMIM:619565 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... |
ORPHA:98818 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Death in childhood, Arthrogryposis multiplex congenita, Akinesi... |
OMIM:619334 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps |
OMIM:175505 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Ataxia, EEG abnormality, G... |
OMIM:617836 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Se... |
OMIM:619157 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality |
OMIM:617643 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... |
ORPHA:98820 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Atte... |
OMIM:619191 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Myoclonus, Tremor, Ataxia, Anxiety, Depre... |
ORPHA:401901 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depr... |
OMIM:606438 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... |
OMIM:117100 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... |
ORPHA:163721 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Cortical Malformations, Occipital |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
Jejunal Atresia |
|
Jejunal atresia, Abnormal abdomen morphology |
OMIM:243600 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Respiratory insufficiency due to mu... |
OMIM:618184 |
Phosphoserine Phosphatase Deficiency |
|
Seizure, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... |
ORPHA:3006 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Shuffling gait, Bradykinesia, Falls, Apathy, Short stepped shuf... |
ORPHA:412066 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory insuf... |
OMIM:208081 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired awareness seizure, Se... |
ORPHA:330050 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Umbilical hernia, Hypsarrhythmia, Flexion contracture, Camptodactyly, Resp... |
OMIM:618011 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:610003 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... |
OMIM:619317 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... |
ORPHA:36899 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly |
OMIM:617068 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure |
OMIM:608278 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
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 |
Creutzfeldt-Jakob Disease |
|
Dementia, Myoclonus, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment |
OMIM:123400 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... |
OMIM:607876 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:86909 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita, Respiratory insu... |
OMIM:611369 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... |
ORPHA:101071 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia, Pneumonia, Hypokinesia |
OMIM:254120 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
ORPHA:36387 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Abnormal peripheral action potential amplitude, Inability to walk, Respiratory failure, Dy... |
ORPHA:90117 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... |
ORPHA:139431 |
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 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... |
OMIM:609446 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Interlobular septal thickening, Diffuse reti... |
ORPHA:2302 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... |
ORPHA:1929 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Dystonia, Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
Familial Infantile Myoclonic Epilepsy |
|
Simple febrile seizure, EEG with focal spike waves, Gait disturbance, Limb myoclonus, Bilateral t... |
ORPHA:352582 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Inability to walk, Atonic seizure, ... |
OMIM:617810 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Perry Syndrome |
|
Respiratory arrest, Dystonia, Respiratory insufficiency, Bradykinesia, Central hypoventilation, S... |
OMIM:168605 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Dystonia, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass o... |
OMIM:610978 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Miller-Dieker Syndrome |
|
Ataxia, EEG abnormality, Omphalocele |
ORPHA:531 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
New-Onset Refractory Status Epilepticus |
|
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... |
ORPHA:363558 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Growth delay, Se... |
ORPHA:488635 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Unilateral Focal Polymicrogyria |
|
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... |
ORPHA:268947 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Death in infancy, Obstructive sleep apnea, Akinesia |
OMIM:618822 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... |
ORPHA:2198 |
Myopathy, Congenital, Compton-North |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Joint contracture of the hand... |
OMIM:612540 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Falls, Loss of ability to walk, Freezing of gait, Short stepped shuffling gait, A... |
ORPHA:240094 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Tremor, Ataxia, Irritability, Ment... |
OMIM:618093 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
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 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Malabso... |
OMIM:615710 |
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 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Short stature, Bilateral tonic-clonic seizure, Myoclonus, Ataxia |
OMIM:619065 |
Rare Non-Syndromic Intellectual Disability |
|
Seizure, Dystonia, Difficulty walking, Bilateral tonic-clonic seizure |
ORPHA:101685 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Bilateral tonic-clonic seizure |
OMIM:104290 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
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 |
Omphalocele, Autosomal |
|
Omphalocele, Inguinal hernia |
OMIM:164750 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clo... |
OMIM:607745 |
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 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... |
ORPHA:79301 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased connective tissue, Respiratory insufficiency, Hypokinesia |
ORPHA:238329 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
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 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, EEG with series of focal spikes, Typical absence seizure, Bilateral tonic-cloni... |
ORPHA:168491 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy |
OMIM:258320 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Convulsive status epilepticus, Inability to walk, EEG abnormality, Focal-onset seizure |
OMIM:618760 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... |
OMIM:601346 |
Atypical Juvenile Parkinsonism |
|
Dystonia, Shuffling gait, Bradykinesia, Inability to walk, Short stepped shuffling gait, Akinesia... |
ORPHA:391411 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impaired tandem gait, Seizure |
OMIM:300423 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... |
ORPHA:65683 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... |
ORPHA:79137 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Focal emotional... |
ORPHA:178469 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short statur... |
ORPHA:208447 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... |
ORPHA:157798 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased connective tissue, Respiratory insufficiency due to muscle weakness, Hypokinesia |
OMIM:300816 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Status epilepticus, Ataxia, EEG abnormali... |
OMIM:271980 |
Salt And Pepper Developmental Regression Syndrome |
|
Multifocal epileptiform discharges, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:609056 |
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 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Hypokinesia, Camptodactyly of fing... |
ORPHA:994 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... |
OMIM:618856 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
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, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Difficulty walking |
ORPHA:98764 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Duodenal atresia, Intestinal malrotation |
OMIM:619608 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Respiratory insufficiency due to muscle weakness, Neonatal death, Arthrogryposis multip... |
OMIM:611890 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis |
OMIM:619164 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Nonproductive... |
ORPHA:2902 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Short stature, Seizure, Generalized myoclonic seizure, ... |
ORPHA:464282 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Emotional lability, An... |
ORPHA:71517 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Flexion contracture |
OMIM:616081 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodactyly of finger, Re... |
OMIM:614399 |
Foxg1 Syndrome |
|
Dystonia, Severe postnatal growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, ... |
ORPHA:561854 |
Postencephalitic Parkinsonism |
|
Abnormal respiratory system physiology, Diminished movement, Bradykinesia, Cough, Akinesia, Oculo... |
ORPHA:97349 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diabetes mellitus, Autoimmune hemoly... |
OMIM:614162 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture |
OMIM:613869 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... |
OMIM:618917 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Corticobasal Syndrome |
|
Dystonia, Gait disturbance, Bradykinesia, Akinesia, Limb dystonia |
ORPHA:454887 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Rowley-Rosenberg Syndrome |
|
Recurrent pneumonia, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelec... |
OMIM:268500 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... |
OMIM:619079 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure |
OMIM:619301 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly |
ORPHA:42642 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... |
ORPHA:289266 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, H... |
ORPHA:382 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Hyperinsulinemic hypoglycemia,... |
OMIM:602579 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency, Lethargy |
OMIM:605711 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Torticollis, Bradykinesia, Hypokinesia, Ataxia, Akinesia |
OMIM:606693 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Tonic seizure, EEG with occipital epileptiform discharges, Bilateral tonic-clonic s... |
OMIM:619428 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Seizure, Res... |
ORPHA:3077 |
Parkinson Disease 17 |
|
Bradykinesia, Akinesia |
OMIM:614203 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Seizure, Status epilepticus, EEG abnormality, Gait ata... |
ORPHA:529665 |
Hyperekplexia 1 |
|
Umbilical hernia, Apnea, Exaggerated startle response, Hypokinesia, Aspiration, Inguinal hernia |
OMIM:149400 |
Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Neonatal respiratory distress, Death in infancy, Arthrogryposis multiplex congenita, In... |
OMIM:618947 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... |
OMIM:615237 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Myoclonus, Focal impaired ... |
ORPHA:485350 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... |
ORPHA:1945 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis, EEG a... |
ORPHA:313772 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Intestinal atresia, Anemia, Duodenal atresia |
ORPHA:3405 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure |
OMIM:619302 |
Severe Canavan Disease |
|
Seizure, Inability to walk, Bilateral tonic-clonic seizure, Lethargy |
ORPHA:314911 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... |
ORPHA:2590 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... |
ORPHA:64743 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Dysdiadoc... |
OMIM:614487 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Ataxia, Respiratory failure |
OMIM:610127 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific int... |
OMIM:610921 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Spinocerebellar Ataxia 21 |
|
Dystonia, Progressive cerebellar ataxia, Ataxia, Akinesia, Limb ataxia, Gait ataxia |
OMIM:607454 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... |
OMIM:602347 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Gait disturbance, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Gait ataxia, Akinesia |
ORPHA:98773 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-ons... |
OMIM:619616 |
Isolated Trigonocephaly |
|
Omphalocele |
ORPHA:3366 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:208441 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Seizure, Mental deterioration, Motor deteriorati... |
ORPHA:168782 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal... |
ORPHA:488613 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Death in infancy, Respiratory insufficiency, Ataxia, Respiratory failure, Lethargy |
OMIM:614299 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Obstructive sleep apnea, Central sleep apnea, Multifocal epileptiform discharges, Ataxia, Inabili... |
ORPHA:70472 |
Segawa Syndrome, Autosomal Recessive |
|
Limb dystonia, Gait ataxia, Hypokinesia |
OMIM:605407 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Seizure, Inability to walk, Generalized dystonia, Tip-toe gait, Attention defic... |
ORPHA:216866 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, ... |
ORPHA:98795 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Arthrogryposis multiplex congenita, Akinesia |
OMIM:601160 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Akinesia, Blepharospasm |
ORPHA:240071 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Hypokinesia |
OMIM:609161 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Achilles tendon contracture, Loss of ability to walk, Exertional dyspnea, Decreased cervical spin... |
ORPHA:254361 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex c... |
OMIM:618291 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Bradykinesia, Seizure, EEG abnormality, Gait ataxia, Abnormal posturing |
ORPHA:157941 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... |
ORPHA:1947 |
Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with burst suppression, Status epilepticus, G... |
OMIM:612164 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Short stature, Hypsarrhythmia, EEG with general... |
ORPHA:91131 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure |
OMIM:616281 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Apnea, Arthrogryposis multiplex congenita, Hypokinesia, Respiratory distress, Aki... |
OMIM:608013 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Intermediate Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Hypokinesia, Flexion contracture, Respiratory failure, Diffic... |
ORPHA:171433 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption |
ORPHA:79168 |
Spinocerebellar Ataxia Type 1 |
|
Gait disturbance, Dystonia, Gait imbalance, Abnormality of somatosensory evoked potentials, Dysme... |
ORPHA:98755 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Fanconi Anemia, Complementation Group W |
|
Polysplenia, Duodenal atresia |
OMIM:617784 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... |
OMIM:271500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... |
OMIM:613101 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Bilateral tonic-clonic seizure, Episodic ataxia |
ORPHA:53583 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Death in infancy, Hypokinesia, Respiratory distress, Congenital co... |
OMIM:615042 |
3-Methylglutaconic Aciduria, Type Viii |
|
Respiratory failure, Dystonia, Apnea, Death in infancy |
OMIM:617248 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Manganese Poisoning |
|
Dystonia, Gait disturbance, Bradykinesia, Akinesia |
ORPHA:306682 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, E... |
ORPHA:309246 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
ORPHA:726 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Achilles tendon contracture |
OMIM:604801 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... |
ORPHA:131 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Broad-based gait |
OMIM:614450 |
Lafora Disease |
|
Gait disturbance, Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonu... |
ORPHA:501 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Brain Small Vessel Disease 2 |
|
Growth delay, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:614483 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Central sleep apnea, EEG with burst suppression, Respirator... |
ORPHA:168486 |
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 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Bilateral tonic-clonic seizure, Dysmetria, Inability to walk, Atonic seizure, U... |
ORPHA:93952 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Flexion contracture, Akinesia |
OMIM:225790 |
Chilblain Lupus 2 |
|
Edema, Vasculitis |
OMIM:614415 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Respiratory insufficiency, Abnormality of connective tissue, Loss of... |
ORPHA:370968 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Aplastic anemia, Panc... |
OMIM:300635 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Difficulty walking, Truncal ataxia, Bilateral tonic-clonic seizure |
ORPHA:369840 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... |
OMIM:301058 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Diminished movement, Focal dystonia, Bradykinesia |
ORPHA:240103 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Focal dystonia, Hypokinesia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyri... |
ORPHA:101150 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Interlobular septal thickening, Neona... |
OMIM:265120 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Infantile spasms, Hyps... |
ORPHA:79243 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Feingold Syndrome |
|
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas |
ORPHA:1305 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Hip contracture, Knee flexion contracture, Respiratory insufficiency |
OMIM:313420 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... |
OMIM:619463 |
Wolman Disease |
|
Hepatomegaly, Esophageal varix, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea |
ORPHA:75233 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... |
ORPHA:95427 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... |
ORPHA:424019 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Generalized non-motor (abs... |
OMIM:300558 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dystonia, Bradykinesia, Seizure, Atypical absence status epilepticus, Focal-ons... |
ORPHA:225147 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... |
OMIM:610913 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Bilateral tonic-clonic seizure, N... |
ORPHA:98784 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Ataxia, Dysdiadochokinesis, Abnormal vestibulo-ocular reflex, Akinesia, Gait ataxia |
ORPHA:247234 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... |
ORPHA:724 |
Trigonocephaly 1 |
|
Omphalocele |
OMIM:190440 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly |
OMIM:121300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, EEG with continuous slow activity, Bilateral tonic-clonic seizure |
ORPHA:275864 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
Spinocerebellar Ataxia Type 12 |
|
Gait disturbance, Bradykinesia, Limb dysmetria, Hypokinesia, Ataxia, Unsteady gait |
ORPHA:98762 |
Aceruloplasminemia |
|
Dystonia, Torticollis, Ataxia, Craniofacial dystonia, Akinesia, Limb ataxia, Gait ataxia, Blephar... |
ORPHA:48818 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Familial Melanoma |
|
Abnormality of the lymphatic system, Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Intrahe... |
OMIM:607765 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Acalvaria |
|
Omphalocele |
ORPHA:945 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Dysphagia, Ascites, Anemia, Malabsorption, Steatorrhea, Abnormality of the gastroin... |
ORPHA:2070 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Respiratory insufficiency, Hypokinesia |
OMIM:614707 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... |
ORPHA:363400 |
Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Akinesia |
OMIM:253290 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Omphalocele, Respiratory distress |
OMIM:617895 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... |
ORPHA:99931 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Lymphopenia, Ileal ulcer, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Gastrointestinal hemorrhage, Porta... |
ORPHA:79319 |
Developmental And Epileptic Encephalopathy 28 |
|
Hypokinesia |
OMIM:616211 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Splenomegaly |
ORPHA:77260 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... |
ORPHA:2930 |
Myoclonic-Astatic Epilepsy |
|
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, EEG with ge... |
ORPHA:1942 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... |
OMIM:245400 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Pulmonary arterial hypertension, Abnormal posturing, Inguinal hernia, Lethargy |
OMIM:614857 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula |
OMIM:223320 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Hypokinesia |
OMIM:300073 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Intrahepatic chole... |
OMIM:613812 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Death in childhood, Akinesia |
OMIM:619147 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Distal Trisomy 15Q |
|
Omphalocele, Camptodactyly of finger |
ORPHA:1707 |
Autosomal Dominant Cerebellar Ataxia |
|
Gait disturbance, Dystonia, Torticollis, Laryngeal dystonia, Progressive cerebellar ataxia, Akinesia |
ORPHA:99 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy, Lethargy |
OMIM:619386 |
Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Hypokinesia, Flexion contracture, Respiratory failure, Respiratory... |
OMIM:310400 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... |
OMIM:612714 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Jaundice |
ORPHA:79302 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Abnormal stomach morphology |
ORPHA:281090 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... |
OMIM:612526 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele |
ORPHA:93267 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Hypokinesia, Inability to walk, Generalized dystonia, O... |
ORPHA:255 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Impaired tandem gait, Ataxia, Bilateral tonic-clonic seizure with generaliz... |
OMIM:619028 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... |
OMIM:616860 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Malabsorption, Hematochezia |
OMIM:277175 |
Refractory Celiac Disease |
|
Jejunitis, Macrocytic anemia, Normocytic anemia, Villous atrophy, Iron deficiency anemia, Malabso... |
ORPHA:398063 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Prolonged neonatal jaundice, Intrahepatic cholestasis, Fat ma... |
OMIM:214950 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... |
ORPHA:1198 |
Bronchogenic Cyst |
|
Pneumonia, Cough, Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis |
ORPHA:2357 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure |
OMIM:618233 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
Developmental And Epileptic Encephalopathy 89 |
|
Dystonia, Omphalocele, Neonatal death, Hypsarrhythmia, EEG with burst suppression, Flexion contra... |
OMIM:619124 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Hypokine... |
ORPHA:258 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... |
OMIM:616050 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Abnormal posturing |
OMIM:304700 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Camptodactyly |
OMIM:618529 |
Leigh Syndrome |
|
Dystonia, Respiratory insufficiency, Abnormal pattern of respiration, Ataxia, Respiratory failure |
OMIM:256000 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal... |
OMIM:610539 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic spasms, Bilateral tonic-clonic seizure, Seizure, Loss of ability to walk, Interictal EE... |
ORPHA:79264 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Tachypnea, Decreased nerve conduction velocity, Ventilator dependence with inability to wean, Cam... |
OMIM:604320 |
German Syndrome |
|
Arthrogryposis multiplex congenita, Hypokinesia |
OMIM:231080 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|