Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Deafness, Autosomal Recessive 119 |
|
Seizure, Sensorineural hearing impairment |
OMIM:619615 |
Worster-Drought Syndrome |
|
Seizure, Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Deafness, Autosomal Recessive 2 |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment |
OMIM:600060 |
Developmental And Epileptic Encephalopathy 81 |
|
Infantile spasms, Tonic seizure, EEG with burst suppression, Sensorineural hearing impairment, My... |
OMIM:618663 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizu... |
ORPHA:725 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... |
OMIM:615369 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Paroxysmal vertigo, Typical ab... |
OMIM:607682 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... |
OMIM:615744 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism, Hearing impairment |
OMIM:312910 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Anorexia |
ORPHA:99852 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Focal motor seizure, Generalized non-motor (absence) seizure, ... |
OMIM:617665 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Vertigo, Myoclonus, Atypical absence sei... |
OMIM:613855 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... |
OMIM:618596 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... |
OMIM:617391 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:254800 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... |
OMIM:617771 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonus, Myocl... |
OMIM:614018 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Hyperleucine-Isoleucinemia |
|
Seizure, Sensorineural hearing impairment |
OMIM:238340 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... |
ORPHA:2382 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ... |
ORPHA:2590 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... |
ORPHA:1368 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... |
OMIM:616409 |
Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... |
OMIM:617113 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor (absence) seizure, M... |
OMIM:617810 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur... |
ORPHA:52368 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... |
ORPHA:3006 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... |
OMIM:616421 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Tremor, EEG abnormality, Dystonia, Generalized myoclonic seizure,... |
OMIM:617836 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Dravet Syndrome |
|
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... |
ORPHA:86909 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... |
ORPHA:97290 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... |
ORPHA:163985 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... |
ORPHA:543 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Seizure, Dystonia |
ORPHA:98811 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Prominent ear helix, Multifocal epileptiform discharges, Generalized non-motor ... |
ORPHA:411986 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure... |
OMIM:271980 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... |
ORPHA:35878 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalize... |
OMIM:618170 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Hearing impairment |
ORPHA:2578 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis |
OMIM:268650 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Proteinuria, Sensorineural hearing impairment, ... |
ORPHA:2143 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... |
ORPHA:100083 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... |
ORPHA:208447 |
Immunodeficiency 104 |
|
Splenomegaly, Gastroesophageal reflux, Lymphadenopathy |
OMIM:608971 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B... |
OMIM:601076 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Cleft palate, Ur... |
OMIM:273395 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... |
OMIM:616281 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Bone marrow hypocellularity, ... |
OMIM:619151 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:615300 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:620166 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch... |
ORPHA:2970 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Seizure, Dystonia |
ORPHA:3240 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Athetosis, Hyperaldosteronism, ... |
ORPHA:369929 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Dystonia, Decreased response to growth hormone stimulati... |
ORPHA:289494 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... |
ORPHA:95699 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Uterus didelphys, Intestinal dup... |
ORPHA:1756 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Abnormal small intestine morphology, Malabsorption, Lymphadenopathy |
ORPHA:100025 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... |
OMIM:614841 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le... |
ORPHA:523 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,... |
OMIM:617805 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Infantile spasms, Sensorineural hearing impairment, Generalized non-motor (abs... |
OMIM:617201 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... |
OMIM:618117 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox... |
ORPHA:168491 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development |
OMIM:618078 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... |
OMIM:614129 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... |
ORPHA:755 |
Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Low-set ears, Focal impaired awareness hemiclonic seizur... |
OMIM:620149 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Cleft palate, Sex re... |
OMIM:154230 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... |
OMIM:616973 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Overfolded helix, Posteriorly rotated ears, Generalized non-motor (absence) seizure |
OMIM:300801 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... |
ORPHA:251274 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619665 |
Acute Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Seizure, Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Anal ... |
ORPHA:1381 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... |
ORPHA:99027 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney... |
OMIM:146255 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... |
ORPHA:85450 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology, Intestinal l... |
ORPHA:397596 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Seizure, Status epilepticus, Macrotia, EEG ... |
OMIM:617864 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Anteverted ears, Tremor, Eating-induced seizure, Macrotia, Myoclonic a... |
ORPHA:544254 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing impairment, Generalized n... |
ORPHA:457351 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly... |
OMIM:613101 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty |
OMIM:300510 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... |
ORPHA:2470 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... |
ORPHA:96181 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... |
OMIM:617690 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... |
OMIM:608800 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Donnai-Barrow Syndrome |
|
Cataract, Posteriorly rotated ears, Intestinal malrotation, Proteinuria, Non-acidotic proximal tu... |
OMIM:222448 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Opti... |
OMIM:617281 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Hydronephrosis, Hearing impairment |
OMIM:620327 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... |
ORPHA:501 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... |
ORPHA:101070 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary |
OMIM:617565 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Cowden Syndrome 5 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... |
OMIM:615108 |
Immunodeficiency 76 |
|
Splenomegaly, Colitis, Lymphadenopathy |
OMIM:619164 |
Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul... |
OMIM:617466 |
Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Opisthotonus, Hypsarrhythmia,... |
ORPHA:95232 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aganglionic megacolon, Intestina... |
ORPHA:2059 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Cowden Syndrome 6 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... |
OMIM:615109 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Malabsorption, Brushfield s... |
ORPHA:912 |
Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Sensorineural hearing impai... |
ORPHA:100084 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Cataract, Hypospadias, Sclerocornea, Peters anomaly, Ovotestis, Cleft palat... |
OMIM:309801 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Cataract, Female hypogonadism, Cholelithiasis, Decreased ... |
OMIM:240300 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Omodysplasia 2 |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Uterus didelphys, Cleft palate, Overfolded... |
OMIM:164745 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... |
ORPHA:97289 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Cleft palate, Sex reversal, Low-set ears, Adrenal gland agenesis |
OMIM:611812 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Mast Cell Sarcoma |
|
Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Cataract, Hypergonadotropic hypogonadism, Sensorineural hearing impair... |
ORPHA:79237 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Pfapa Syndrome |
|
Splenomegaly, Malabsorption, Lymphadenopathy |
ORPHA:42642 |
Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619203 |
Oeis Complex |
|
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitali... |
OMIM:258040 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... |
ORPHA:314478 |
Congenital Toxoplasmosis |
|
Cognitive impairment, Hearing impairment, Lymphadenopathy |
ORPHA:858 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Tremor, Depression, Hematochezia, Memory impairment, Hypogonadism, Type II diabetes mel... |
ORPHA:79095 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvu... |
OMIM:616258 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... |
OMIM:615559 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... |
OMIM:617914 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Hydroureter, Diabetes mellitus, Diabetes insipidus, Tremor, Hypothy... |
OMIM:222300 |
Harel-Yoon Syndrome |
|
Optic atrophy, Generalized non-motor (absence) seizure, Dystonia |
OMIM:617183 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... |
ORPHA:1839 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy |
ORPHA:100024 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Lymphadenopathy |
ORPHA:26790 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Precocious puberty, Optic atrophy, Dy... |
ORPHA:845 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... |
OMIM:602450 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ileus, Ovarian neopla... |
ORPHA:83469 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Celiac disease, Splenomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Tularemia |
|
Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymp... |
ORPHA:3392 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Cleft palate, Low-set ear... |
OMIM:236680 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Cataract, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia... |
OMIM:607371 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Protruding ear, Hypoplasia of the uterus, Increased serum testosterone level, Abnor... |
ORPHA:247768 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, EEG with bu... |
ORPHA:1934 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... |
ORPHA:90321 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... |
OMIM:606408 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Conjunctivitis, Lymphadenopathy |
OMIM:240500 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Cataract, Vaginal neoplasm, Proteinuria, Hypoperistalsis, Esophageal neoplas... |
ORPHA:1018 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Conjunctivitis, Lymphadenopathy |
OMIM:603552 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Posteriorly rotated ears, Unilateral renal agenesis, Elevated circulating lutei... |
OMIM:618419 |
Cowden Syndrome 1 |
|
Colonic diverticula, Cataract, Hyperthyroidism, Hearing impairment, Goiter, Thyroiditis, Furrowed... |
OMIM:158350 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Aganglionic megacolon, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generali... |
OMIM:614207 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Rhabdoid Tumor |
|
Hematuria, Neoplasm of the liver, Irritability, Lymphadenopathy |
ORPHA:69077 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Diabetes mel... |
ORPHA:93111 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Large fleshy ears, Bicornuate uterus, Polycystic kidney dysplasia, Low-... |
OMIM:263210 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Optic atrophy, Choreoathetosis, Seizure, Dystonia, Myoclonic absence seizure |
OMIM:616034 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Posteriorly rotated ears, Generalized clonic seizure, Tremor, Focal-o... |
OMIM:619229 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... |
ORPHA:98795 |
Cockayne Syndrome A |
|
Renal insufficiency, Cataract, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked p... |
OMIM:216400 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Dystonia |
OMIM:618729 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal... |
OMIM:229850 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Malabsorption |
OMIM:600705 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Microtia, Central hypothyroidism |
OMIM:614851 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectasia, Hepatosple... |
ORPHA:1655 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goit... |
ORPHA:142 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 54 |
|
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lymphadenopathy |
OMIM:609981 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Opt... |
ORPHA:909 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Confusion, Hepatosplenome... |
ORPHA:309288 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia, Sensorineural hearing impairment, Macroglossia, Dysphagia, Mental... |
ORPHA:79107 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Status epilepticus, Myoclonus |
OMIM:618201 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... |
OMIM:615363 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... |
ORPHA:90796 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Urinary incontinence, Progressive psychomo... |
OMIM:268800 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Ulcerative co... |
OMIM:618935 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Proteinuria, Vaginal atresia, Low-set ears |
OMIM:191830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... |
OMIM:601186 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Pseudotrisomy 13 Syndrome |
|
Posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus... |
OMIM:264480 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Microsporidiosis |
|
Keratitis, Abnormality of the spleen, Lymphadenitis, Prostatitis, Urethritis, Abnormal endometriu... |
ORPHA:2552 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... |
ORPHA:649 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Posteriorly rotated ears, Sha... |
ORPHA:2745 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Prot... |
OMIM:618820 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Abnormality of the urethra, Microtia, Bicornuate uterus, Abnormality of the uterus, ... |
ORPHA:2438 |
Hyperekplexia 1 |
|
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures |
OMIM:149400 |
Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus |
ORPHA:309155 |
Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy |
ORPHA:654 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Athetosis, Irritability, Lymphadenopathy |
OMIM:257200 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Absence of lymph node germinal center |
OMIM:608184 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy |
OMIM:611762 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Pleural Mesothelioma |
|
Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Currarino Syndrome |
|
Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Gastro... |
OMIM:176450 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Posteriorly rotated ears, Lymphadenopathy, Hepatosplenomegaly, High palate, Low-set ears, Hypothy... |
OMIM:619750 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydroureter, Septate vagina, Hydronephrosis, Bicornuate uterus, Rectovaginal fistula, Labial hypo... |
OMIM:300707 |
Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... |
OMIM:146200 |
Multiple Endocrine Neoplasia Type 2 |
|
Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,... |
ORPHA:653 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Intestinal malrotation, Asplenia, Cryptorchidism, Cleft pal... |
ORPHA:99776 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... |
OMIM:614083 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Chemosis, Nephritis |
OMIM:614034 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Nephrotic syn... |
ORPHA:911 |
Lig4 Syndrome |
|
Hypoplasia of penis, Malabsorption, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, H... |
ORPHA:99812 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... |
ORPHA:1333 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... |
OMIM:269150 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria, Crohn's disease, Lymphadenopathy |
ORPHA:69126 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue, Lymphadenopathy, Macroglossia, Oligosacchariduria, Abnormal autono... |
ORPHA:2483 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Depression, Lymphadenopathy, Dementia, Bone marrow hypoce... |
ORPHA:101096 |
Cinca Syndrome |
|
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... |
OMIM:607115 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Optic nerve hy... |
OMIM:243605 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Maturity-onset diabetes o... |
OMIM:137920 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Clonic ... |
OMIM:615574 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... |
ORPHA:84 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
H Syndrome |
|
Diabetes mellitus, Malabsorption, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Corneal arcus... |
ORPHA:168569 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Cataract, Follicular thyroid carcinoma, Enlarge... |
ORPHA:201 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Aplasia/hypoplasia of the uterus, Gonadal... |
ORPHA:243 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure |
ORPHA:576283 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis,... |
ORPHA:436159 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... |
OMIM:614527 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... |
OMIM:615398 |
Griscelli Syndrome |
|
Splenomegaly, Pyloric stenosis, Lymphadenopathy, Bone marrow hypocellularity, Iris hypopigmentation |
ORPHA:381 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Cupped ear, C... |
OMIM:263650 |
Agel Amyloidosis |
|
Deficit in phonologic short-term memory, Tongue atrophy, Cataract, Proteinuria, Facial palsy, Xer... |
ORPHA:85448 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atres... |
ORPHA:59315 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... |
OMIM:270400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Splenomegaly, Thyroiditis, Lymp... |
OMIM:614700 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasia, Optic atrophy, ... |
ORPHA:79500 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Conjunctivitis, Lymphadenopathy |
OMIM:607594 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-motor (absence)... |
ORPHA:435638 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology |
ORPHA:54251 |
Scrub Typhus |
|
Tremor, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Low-set ears... |
OMIM:300260 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, External ear malformation, High palate, Dystonia |
ORPHA:438216 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, U... |
ORPHA:958 |
Sézary Syndrome |
|
Tremor, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... |
OMIM:140000 |
Angelman Syndrome |
|
Optic disc pallor, Infantile spasms, Tremor, Optic atrophy, EEG abnormality, Seizure, Status epil... |
ORPHA:72 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Cupped ear, Microcornea, Hypoplasia of the uterus, High... |
OMIM:110100 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms |
ORPHA:467166 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial hypoplasia, Vesi... |
ORPHA:140952 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Hypoplasia of th... |
OMIM:615866 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... |
ORPHA:3301 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Ileus, Lymphadenopathy, Type I diabetes mellitus, Hypothyroi... |
OMIM:304790 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... |
OMIM:300912 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa, Lymphadenopa... |
OMIM:616100 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Ileus, Hypogonadism, Heter... |
ORPHA:163746 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Urinary glycosaminoglycan excreti... |
ORPHA:79255 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Corneal opacity, Hypospadias, Abnormal pinna morphology, Cry... |
OMIM:219000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
American Trypanosomiasis |
|
Splenomegaly, Achalasia, Aganglionic megacolon, Lymphadenopathy |
ORPHA:3386 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Torticollis, Villous atrophy, Ureteral hypoplasia, Large flesh... |
ORPHA:79328 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Renal insufficiency, Uri... |
ORPHA:322 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Bi... |
ORPHA:2729 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Gastroesophageal reflux, Vesicoureteral reflux, Hypothyroidism, Multicystic kidney... |
OMIM:107480 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus |
ORPHA:2736 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Inflammation of the large intestine, Absent peripheral lymph nodes in presence o... |
ORPHA:98813 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen... |
OMIM:603909 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism,... |
OMIM:617527 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, R... |
ORPHA:160 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Seizure, Focal impaired awareness seizure |
OMIM:618056 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Iris hypopigmentation, Lymphadenopathy |
ORPHA:79477 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Abnormality of the lymphatic system, Optic a... |
ORPHA:538 |
Mevalonic Aciduria |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Fluctuating splenomegaly, Lymphadenopathy,... |
OMIM:610377 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Lymphad... |
OMIM:619644 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Microti... |
OMIM:617798 |
Cinca Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, Pseudopapillede... |
ORPHA:1451 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Ep... |
ORPHA:2035 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Hearing im... |
ORPHA:96147 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... |
ORPHA:93932 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Splenomegaly, Multifocal epilept... |
ORPHA:33226 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphan... |
OMIM:265380 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal salivary gland morphol... |
ORPHA:2363 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Posteriorly rotated ears, Abnormality of the ureter, Uterus didelphys, Narrow pala... |
OMIM:200980 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Endometriosis, Unilateral renal agenesis, Velopharyngeal insufficiency, Horseshoe ki... |
ORPHA:363444 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cyclic Neutropenia |
|
Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Enterocolitis, Lymphadenopathy |
ORPHA:2686 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Abnormal pinna morphology, Generalized non-motor (absence) seizure, Low-set ears |
OMIM:612337 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... |
OMIM:602782 |
Mednik Syndrome |
|
Cataract, Jejunal atresia, Sensorineural hearing impairment, Volvulus, Microcolon |
OMIM:609313 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Abnormality of the uterus, ... |
ORPHA:567 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Sept... |
OMIM:617925 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Infantile spasms, Optic atrophy, Generalized non-motor (absence) seizure, Foca... |
ORPHA:404454 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Endometriosis, Horseshoe kidney |
OMIM:613680 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... |
ORPHA:139411 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Atyp... |
ORPHA:100093 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus |
OMIM:613839 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Neoplasm of... |
ORPHA:556 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Enterocolitis, Lymphadenopathy, Hepatosplenomegaly, Co... |
OMIM:619802 |
Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Proteinuria, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy... |
ORPHA:36412 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastritis, Splenomegaly, Mediastinal lymphadenopathy, Xerostomia, Ly... |
ORPHA:809 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Urethral atresia, High palate, Conductive hearing impairment,... |
ORPHA:2052 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Urinary incontinence, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:314404 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Thymoma, Ke... |
OMIM:269200 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Malabsorption, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabe... |
OMIM:606367 |
Omenn Syndrome |
|
Splenomegaly, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Hypothyroidism |
ORPHA:39041 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, Conjunctivitis, Hepatocellular carcinoma, Prostatitis, Heari... |
OMIM:300755 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Gastritis, Malabsorption, Abnormality of the endocrine system, Splenomegaly, Ile... |
ORPHA:37042 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Ectopic anus, Breast apl... |
ORPHA:3138 |
Chediak-Higashi Syndrome |
|
Tremor, Splenomegaly, Decreased nerve conduction velocity, Ocular albinism, Lymphadenopathy, Iris... |
OMIM:214500 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Lymphade... |
ORPHA:93552 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Renal insufficiency, Cataract, Proteinuria, Sens... |
OMIM:308940 |
Peters Plus Syndrome |
|
Ureteral duplication, Microcornea, Clitoral hypoplasia, Conductive hearing impairment, Iris colob... |
ORPHA:709 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure, Optic nerve hypoplasia |
ORPHA:363686 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Generalized non-motor (absenc... |
ORPHA:395 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micr... |
OMIM:610125 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Posteriorly rotated ears, Generalized non-motor (absence) seizure, Seizure, Low-set ears, Overfol... |
OMIM:617360 |
Neuroendocrine Neoplasm Of Appendix |
|
Functional intestinal obstruction, Chronic noninfectious lymphadenopathy, Mechanical ileus, Prima... |
ORPHA:100079 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... |
ORPHA:369837 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficienc... |
ORPHA:2905 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of... |
ORPHA:991 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... |
ORPHA:79351 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, External genital hypoplasia, Adrenal hypoplasia, Asplen... |
OMIM:249000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Colitis, Abnormal renal physiology |
ORPHA:540 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-obstructive azoospermia, Cr... |
ORPHA:2232 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Cleft palate, Horseshoe kidn... |
ORPHA:3320 |
Meckel Syndrome |
|
Accessory spleen, Low-set, posteriorly rotated ears, Ureteral duplication, Cataract, True hermaph... |
ORPHA:564 |
Leishmaniasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tonic seizure, Seizure, Focal emotional seizure with laughing, Aton... |
OMIM:618367 |
Legius Syndrome |
|
Short attention span, Cataract, Dystonia, Nephrolithiasis, Desmoid tumors, Ovarian neoplasm, Vest... |
ORPHA:137605 |
Immunodeficiency 31C |
|
Villous atrophy, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Gastrointestinal eosinophilia,... |
OMIM:614162 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Gener... |
ORPHA:466943 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Optic atrophy |
OMIM:253800 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:615802 |
Cherubism |
|
Optic neuropathy, Marcus Gunn pupil, Narrow palate, Submandibular lymph node enlargement |
OMIM:118400 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, High palate, Small earlobe, Pelvic kidney, Hypospadias,... |
OMIM:619522 |
Pontocerebellar Hypoplasia Type 7 |
|
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,... |
ORPHA:284339 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:342 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Lymphadenopathy |
ORPHA:343 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Small scrotum, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric... |
OMIM:181450 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Progressive hearing impairment, Oliguria, Central hypothyroidism |
ORPHA:514 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hematochezia, Inflammation of the large intestine, ... |
OMIM:615895 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Confusion, Malabsorption, Orchitis, S... |
ORPHA:117 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus... |
ORPHA:93271 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate... |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cataract, Corneal opacity, Pancreatic cysts, Cleft palate, Hepatosplenomega... |
OMIM:274000 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Posteriorly rotated ears, Unilateral renal agenesis, Velopharyngeal insuff... |
OMIM:154400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Narrow... |
ORPHA:109 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Cataract, Hyperthyroidism, Facial... |
ORPHA:797 |
Hennekam Syndrome |
|
Malabsorption, External ear malformation, Splenomegaly, Pyloric stenosis, Ectopic kidney, Pulmona... |
ORPHA:2136 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Neoplasm of the tongue, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
Graft Versus Host Disease |
|
Gastrointestinal inflammation, Lymphadenopathy, Irritability, Hepatosplenomegaly, Recurrent gastr... |
ORPHA:39812 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... |
ORPHA:549 |
Limb-Mammary Syndrome |
|
Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Protruding ear... |
ORPHA:69085 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... |
ORPHA:411709 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Microcolon, ... |
OMIM:619351 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa... |
ORPHA:100078 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Glomerulonephritis, Abnormality of the peripheral nervous system, Xerostomia... |
ORPHA:289390 |
Chédiak-Higashi Syndrome |
|
Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy, Hepatosplenomegaly, D... |
ORPHA:167 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Malabsorption, Hypothyroidism, Thyroiditis, Lymphadenopathy, Recurrent inf... |
ORPHA:83471 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia, Precocious puberty, Cryptorchidism, Ab... |
ORPHA:438213 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Keratitis, Orchitis,... |
ORPHA:449563 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Renal insufficiency, Abnormality of the endocrine system, Abnormality ... |
ORPHA:228123 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the thyroid gland, Prostatitis, Xerostomia, Enlarged lacrimal... |
ORPHA:449432 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Hypospadias, Abnormal pinna morphology, Precocious puberty, Cry... |
OMIM:194190 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Low-set ears, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidis... |
OMIM:618280 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Microcornea, High palate, Gastroesophageal reflux, Abnormality of the uterus... |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Posteriorly rota... |
OMIM:268300 |
Farber Disease |
|
Corneal opacity, Lymphadenopathy, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacificat... |
ORPHA:333 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome |
ORPHA:139402 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Irritability, Lymphadenopathy |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Irritability, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Cataract, Hypospadias, Posteriorly rotated ears, ... |
OMIM:261540 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... |
OMIM:260920 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention, Recurrent gastroent... |
ORPHA:79124 |
Selective Igm Deficiency |
|
Keratitis, Lymphadenitis, Lymphadenopathy, Thyroid carcinoma, Crohn's disease, Stomach cancer, Re... |
ORPHA:331235 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Melena, Increased serum serotonin, Atypical pulmonary carc... |
ORPHA:100080 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Cleft soft palate, Unilateral renal agenesis, Decreased response to g... |
OMIM:619503 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Abnormal pinna morphology, Post... |
OMIM:135900 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Cryptorchidism, Cleft palate, Low-set ears, Pterygium, Macrotia |
OMIM:256520 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Sialaden... |
ORPHA:449395 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Megacystis, Microcolon |
OMIM:619362 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Hearing impairment, Unilateral renal agenesis, Cr... |
ORPHA:96121 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hypers... |
ORPHA:3261 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Hematochezia, Melena, Atypical pulmonary carcinoid tumor, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Hematochezia, Melena, Atypical pulmonary carcinoid tumor, ... |
ORPHA:100082 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy, Hematochezia, Inflammation of the large intestine, Col... |
OMIM:617718 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Cutaneous Neuroendocrine Carcinoma |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
Klatskin Tumor |
|
Cholangiocarcinoma, Lymphadenopathy |
ORPHA:99978 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
Weaver Syndrome |
|
Seizure, Macrotia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy |
OMIM:233710 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microtia, Abnormality of the uterus |
ORPHA:1788 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy |
OMIM:233690 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Urinary incontinence, Tremor, Splenomegaly, Keratitis, Abnormal... |
ORPHA:3385 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence... |
ORPHA:466950 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Splenomegaly, Esophageal varix, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Bone marrow h... |
OMIM:615688 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hematemesis, Increased circulating ACTH level, Melena, Zol... |
ORPHA:100075 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypospadias, High, narrow palate, Abnormal pupil morphology, Cryptorchidism, Cystoce... |
ORPHA:286 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hematemesis, Splenomegaly, Hematochezia, Nephrot... |
OMIM:615846 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Splenomegaly, Cervical ly... |
ORPHA:50918 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Orchitis, Splenomegaly, Lymphadenopathy, Conjunctivitis |
ORPHA:32960 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Lymphadenopathy, High palate, Bilateral sensorineural hearing imp... |
OMIM:619418 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... |
ORPHA:672 |
Acute Promyelocytic Leukemia |
|
Hematuria, Lymphadenopathy |
ORPHA:520 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure, Facial palsy |
ORPHA:258 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Hypothyroidism, Low-set ears, Lymphadenopathy |
OMIM:607944 |
Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland,... |
ORPHA:79078 |
Multiple Myeloma |
|
Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Nephrotic sy... |
ORPHA:29073 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Conjunctivitis, Lymphadenopathy |
OMIM:617591 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Conjunctivitis, Lymphadenopathy |
ORPHA:293173 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Peptic ulcer, Lymphadenopathy |
ORPHA:98849 |
Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Confusion, Hematemesis, Splenomegaly, Orchitis, Epididymitis, Lymphadenopathy, Melen... |
ORPHA:99827 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abnormality of the peripheral nerv... |
ORPHA:1304 |
Blau Syndrome |
|
Cataract, Facial palsy, Keratitis, Splenomegaly, Xerostomia, Stage 5 chronic kidney disease, Lymp... |
ORPHA:90340 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Follicular hyperplasia, Splenomegaly, Lymphadenopathy... |
OMIM:619381 |
Plague |
|
Hearing impairment, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Enlarged mesenteric ... |
ORPHA:707 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Splenomegaly, Anal atresia, Lymphadenopathy |
ORPHA:1572 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... |
ORPHA:31150 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Rectal abscess, Lymphadenopathy |
OMIM:306400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Splenomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment |
ORPHA:667 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Protruding ear... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Typical absence seizure, Protruding ear... |
ORPHA:352665 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Loeys-Dietz Syndrome |
|
High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Cervical insufficiency, Bladder divertic... |
ORPHA:287 |
Q Fever |
|
Hematuria, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Glycosuria, ... |
OMIM:600001 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Sensorineural hearing impairment, Generalized non-motor (... |
OMIM:612474 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cle... |
ORPHA:1662 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Abnormal Eustachian tube morphology, Generalized non-motor (absen... |
ORPHA:513456 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Epididymitis, Elevated circulating thyroid-stimulating hormone concentration, Lymph... |
OMIM:256040 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral tonic-clonic seizure, Generalized non... |
OMIM:620330 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Protruding ear, Seizure, Generalized myo... |
ORPHA:268261 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Depression |
ORPHA:536 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediastinal lymphadenopathy, Enlarge... |
OMIM:181000 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Confusion, Orchitis, Odynophagia,... |
ORPHA:99826 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Generalized non-motor (absence) seizure |
ORPHA:293978 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
Kawasaki Disease |
|
Proteinuria, Cervical lymphadenopathy, Sterile pyuria, Irritability, Conjunctivitis, Glossitis |
ORPHA:2331 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Narrow palate, Anteriorly ... |
OMIM:276820 |
Helsmoortel-Van Der Aa Syndrome |
|
Posteriorly rotated ears, Facial palsy, Tonic seizure, Typical absence seizure, Cupped ear, Seizu... |
OMIM:615873 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Posteriorly rotated ears, Generalized non-motor (absence) seizure, Seizure, Abno... |
ORPHA:2636 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, Sensorineural hearing impairment, Narrow palate, Protruding ear, High palate, Ut... |
OMIM:303600 |
Chikungunya |
|
Depression, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Pallister-Killian Syndrome |
|
Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypospadias, Cryptorchidism, Apla... |
OMIM:601803 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Generalized non-motor (absence) seizu... |
OMIM:614976 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Optic nerve hypoplasia, Optic atrophy, Generalized non-motor (absence)... |
ORPHA:500150 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Sotos Syndrome |
|
Aganglionic megacolon, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Gen... |
ORPHA:821 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Atonic seizure |
OMIM:617157 |
Leptospirosis |
|
Papilledema, Cellular urinary casts, Lymphadenopathy, Conjunctival hyperemia, Acute kidney injury |
ORPHA:509 |
Loeys-Dietz Syndrome 3 |
|
Cataract, Eosinophilic infiltration of the esophagus, Cystocele, Cleft palate, High palate, Uteri... |
OMIM:613795 |
Mowat-Wilson Syndrome |
|
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... |
ORPHA:2152 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, High palate, Bifid uvula, Cleft palate |
ORPHA:284984 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Focal-onset seizure, Sensorine... |
ORPHA:261552 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Generalized non-motor (absence) seizure |
ORPHA:77293 |
Alström Syndrome |
|
Abnormal vestibular function, Optic disc pallor, Typical absence seizure, Otitis media, Severe se... |
ORPHA:64 |