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 auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment, Seizure |
OMIM:619615 |
Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Seizure |
ORPHA:3465 |
Deafness, Autosomal Recessive 2 |
|
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600060 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
Developmental And Epileptic Encephalopathy 81 |
|
Myoclonic seizure, Sensorineural hearing impairment, EEG with burst suppression, Focal clonic sei... |
OMIM:618663 |
Deafness, Autosomal Dominant 74 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618094 |
Deafness, Autosomal Dominant 56 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600974 |
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 |
Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... |
ORPHA:725 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... |
OMIM:615369 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-cloni... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic s... |
OMIM:618141 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Spastic Paraparesis And Deafness |
|
Cataract, Tremor, Hearing impairment, Hypogonadism |
OMIM:312910 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:320401 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Abnormal antihelix morphology, Cataract, Hearing impairment, Cryptorchidism |
OMIM:274205 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Myoclonus, Generalized ... |
OMIM:618587 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Seizure, Generalized non-motor (absence) seizure, Bilate... |
OMIM:609446 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myoclonic absenc... |
OMIM:618596 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Hypsarrhythmia, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical ... |
OMIM:617771 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Bilateral tonic-c... |
OMIM:254800 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Focal motor seizure, Seizure, EEG abnormality, EEG with polyspike wave complex... |
OMIM:617665 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Tremor, ... |
OMIM:614018 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Seizure |
OMIM:238340 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... |
OMIM:125250 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:607681 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari... |
OMIM:601455 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:307 |
Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Seizure, EEG abnormality, Absent brainstem auditory responses, ... |
OMIM:617519 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... |
OMIM:619157 |
Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized myoclonic... |
ORPHA:2382 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Sensorineural hearing impairment, Seizure, Typical absence seizure, Eyelid myoclo... |
ORPHA:2590 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Multifocal epile... |
OMIM:619317 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine morphology, Dys... |
ORPHA:70482 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Sensorineural hearing impairment, Seizure, Optic atrophy |
ORPHA:1171 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Decreased... |
ORPHA:1368 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Cataract, Tremor, Optic disc pallor, Hearing impairment |
OMIM:165300 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, EEG with generalized epileptiform discharges, Seizure, Focal motor se... |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spas... |
OMIM:617113 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... |
ORPHA:36387 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:611634 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizu... |
OMIM:616409 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Optic atrophy, EEG abnormality, Bilateral tonic-clonic seizure, Atonic seizure... |
OMIM:617810 |
Pyridoxine-Dependent Epilepsy |
|
EEG with generalized epileptiform discharges, Seizure, EEG with burst suppression, Hypsarrhythmia... |
ORPHA:3006 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... |
OMIM:601596 |
Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Tremor... |
OMIM:616421 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Lymphadenopathy, Barrett esophagus, Esophageal carcinoma |
ORPHA:99976 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Siddiqi Syndrome |
|
Limb dystonia, Sensorineural hearing impairment, Seizure |
OMIM:618635 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Myoclonic... |
OMIM:617836 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Epileptic spasm, EEG with polyspike wave complexes, EEG with burst suppression... |
OMIM:619913 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Multifocal epileptiform discharges, Status epilepticus, Fo... |
OMIM:619606 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz... |
ORPHA:79137 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Dravet Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... |
ORPHA:33069 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptiform discharg... |
OMIM:617711 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Generalized myoclonic s... |
ORPHA:86909 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Colon cancer, Follicular thyroid carcinoma, Chron... |
ORPHA:319487 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia |
OMIM:201710 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Colon cancer, Chronic noninfectious lymphadenopat... |
ORPHA:97290 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Primary adrenal in... |
ORPHA:3453 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of peripheral nerve conduction, Abnormality of female external genita... |
ORPHA:168563 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes, Generalized tonic seizure, Focal im... |
ORPHA:163985 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia... |
ORPHA:206443 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Intestinal obstruction, Gastrointestina... |
ORPHA:543 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, EEG abnormality, Foca... |
OMIM:615476 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Myoclonus, Large e... |
ORPHA:411986 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Seizure, Choreoathetosis, Torsion dystonia, Dystonia, Generalized non-motor (absence) seizure |
ORPHA:98811 |
Rolandic Epilepsy |
|
EEG with centrotemporal focal spike waves, Febrile seizure (within the age range of 3 months to 6... |
ORPHA:1945 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... |
ORPHA:35878 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Sensorineural hearing impairment, Seizure, Bilateral tonic-clonic seizure, Multifocal seizures, I... |
OMIM:618170 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Focal-onset seizure, Generalized myoclonic seizure, Generalize... |
ORPHA:1942 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Bicornuate uterus |
OMIM:258320 |
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 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Azoospermia, Ectopic kidney, Aplasia/hypoplasia of the uterus, Hearing impairment |
ORPHA:2578 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clon... |
OMIM:271980 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Elevated ... |
ORPHA:100083 |
Deafness, Autosomal Recessive 103 |
|
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:616042 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Adrenal hyperplasia |
OMIM:201910 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Bicornuate uterus, Abnormality of the uterus, Intestinal malrot... |
ORPHA:2143 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Anxiety, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circul... |
OMIM:219080 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia |
OMIM:619260 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... |
OMIM:201810 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic... |
OMIM:601076 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... |
OMIM:619428 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Cognitive impairme... |
ORPHA:2970 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... |
OMIM:273250 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Asplenia, Adrenal gland agenesis, Absent external genitalia, Anal atresia, Vagi... |
OMIM:273395 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia |
OMIM:202110 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Low-set ears, Generalized non-... |
OMIM:616281 |
Perrault Syndrome 4 |
|
Cognitive impairment, Decreased serum estradiol, Bicornuate uterus, Progressive sensorineural hea... |
OMIM:615300 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:404 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible p... |
ORPHA:369929 |
Caudal Duplication |
|
Intestinal duplication, Cryptorchidism, Uterus didelphys, Ureteral duplication, Abnormal penis mo... |
ORPHA:1756 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased testicular size, Decreased serum testosterone concentration,... |
OMIM:614841 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Cognitive impairment, Increased circulating cortisol level, Type II diabetes mellitus, Decreased ... |
ORPHA:189439 |
4H Leukodystrophy |
|
Dysphagia, Decreased response to growth hormone stimulation test, Optic atrophy, Abnormality of t... |
ORPHA:289494 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Seizure, Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Primary gonadal insufficienc... |
ORPHA:755 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... |
OMIM:620145 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Anal atresia, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of t... |
ORPHA:1381 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Ambiguous genitalia, Conductive hearing impairment, Decreased circ... |
ORPHA:95699 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly |
OMIM:619126 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Cataract, Uterine leiomyoma, Barre... |
ORPHA:523 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney,... |
OMIM:617805 |
Adult Krabbe Disease |
|
EEG abnormality, Gait disturbance, Ataxia, Prolonged brainstem auditory evoked potentials, Broad-... |
ORPHA:206448 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Sensorineural hearing impairment, Inability to walk, Absent brainstem auditory respo... |
ORPHA:101085 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sensorineural hearing impairment, High palate, Sex reversal, Microtia, Hypoplasti... |
OMIM:154230 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Periventricular Nodular Heterotopia 7 |
|
Sensorineural hearing impairment, Seizure, Hypsarrhythmia, Infantile spasms, Optic disc pallor, G... |
OMIM:617201 |
Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Streak ovary, Elevated circulating luteinizing hormone level, H... |
OMIM:614129 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormal small intestine morphology, Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Seizure, EEG with focal spikes, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic seizure, F... |
ORPHA:485350 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal s... |
ORPHA:424019 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Emotional lability, Diabetes mellitus,... |
OMIM:615830 |
Developmental And Epileptic Encephalopathy 110 |
|
Macrotia, Continuous spike and waves during slow sleep, Focal impaired awareness hemiclonic seizu... |
OMIM:620149 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... |
OMIM:612964 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Anxiety, Absence of secondary sex characteristics, Decreased testicular size... |
ORPHA:432 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure, Overfolded helix, Posteriorly rotated ears, EEG abnormality |
OMIM:300801 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... |
OMIM:194072 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, EEG with generalized slow activity grade 4, EEG with serie... |
ORPHA:168491 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenomegaly, Oligospermia, Int... |
ORPHA:85450 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure |
ORPHA:529808 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure |
ORPHA:529799 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Exaggerated startle response, Dysplastic testes, Ambiguous genitalia, ma... |
OMIM:608800 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating luteini... |
OMIM:619665 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
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 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 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Sp... |
ORPHA:99027 |
Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Pseudopapilledema, Nephrotic syndrome, Nephrocalcinosis, Hematu... |
OMIM:146255 |
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 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Bilateral cryptorchidism, Aplasia ... |
ORPHA:99429 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Emotional lability |
OMIM:617028 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Seizure, Status epilepticus, Optic nerve hypoplasia, EEG ... |
OMIM:617864 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Focal-onset seizure, Limb dystonia, EEG with temporal focal spikes, Atonic sei... |
OMIM:616973 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morp... |
ORPHA:2470 |
Stiff Person Spectrum Disorder |
|
Hypothyroidism, Exaggerated startle response, Emotional lability, Diabetes mellitus, Anxiety, Ago... |
ORPHA:3198 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Cleft palat... |
ORPHA:96181 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Colitis, Spl... |
OMIM:613101 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology |
ORPHA:482 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Epididymitis |
OMIM:608106 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Macrotia, Eating-induced seizure, Tremor, Anteverted ears, Myoclonic a... |
ORPHA:544254 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Cognitive impairment, Increased circulating cortisol level, Macronodular adre... |
ORPHA:189427 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Seizure, Hearing impairment |
OMIM:620114 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Sensorineural hearing impairment, Bicornuate uterus, Hypoplasi... |
OMIM:222448 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Lafora Disease |
|
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... |
ORPHA:501 |
Cowden Syndrome 5 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615108 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Ectopic anus, Bifid scrotum, Hypoplastic labia majora... |
ORPHA:83628 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Fryns Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Ectopi... |
ORPHA:2059 |
Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Microtia, Rectovaginal fistula, Anal atresia,... |
OMIM:617466 |
Perrault Syndrome 6 |
|
Streak ovary, Sensorineural hearing impairment, Hypoplasia of the uterus |
OMIM:617565 |
Cowden Syndrome 6 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615109 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology |
ORPHA:3411 |
Duplication Of Urethra |
|
Urethral stricture, Septate vagina, Uterus didelphys, Vesicoureteral reflux, Penile hypospadias, ... |
ORPHA:237 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... |
ORPHA:101070 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly, Colitis |
OMIM:619164 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Sensorineural hearing impairment, Seizure, EEG abnormality, Hy... |
ORPHA:457351 |
Zellweger Syndrome |
|
Brushfield spots, Multicystic kidney dysplasia, Sensorineural hearing impairment, Posterior embry... |
ORPHA:912 |
Omodysplasia 2 |
|
Gastroesophageal reflux, Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Ove... |
OMIM:164745 |
Lissencephaly Due To Lis1 Mutation |
|
Generalized tonic seizure, Seizure, Focal motor seizure, Opisthotonus, Hypsarrhythmia, Generalize... |
ORPHA:95232 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Anal atresia, Anteriorly placed anus, Iris coloboma, Peters anomaly, Catara... |
OMIM:309801 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Progressive sensorineural hearing impairment,... |
ORPHA:2237 |
Hyperekplexia 2 |
|
Gastroesophageal reflux, Astigmatism, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Increased serum estradiol, Ambiguous genitalia, Abnormal circulating es... |
ORPHA:90797 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Macrotia, Seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Oeis Complex |
|
Duplicated colon, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter... |
OMIM:258040 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Tympanosclerosis, Asplenia, Atrophic gastritis, Hypothyroidism, Decreased ci... |
OMIM:240300 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis, Low-set ears, Cleft palate |
OMIM:611812 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Neuroendocrine neoplasm, Carcinoid tumor, Unilateral conductive... |
ORPHA:100084 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Suicidal ideation, Atypical... |
ORPHA:99889 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exaggerated star... |
OMIM:300607 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy |
ORPHA:66661 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Neurogenic b... |
OMIM:222300 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Sensorineural hearing impairment, Psychomotor deterioration, Hepatosplenomegaly... |
ORPHA:79237 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Seizure, EEG with burst suppression, Hypsarrhythmia |
OMIM:615574 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Decreased cirrculating a... |
OMIM:619203 |
Congenital Toxoplasmosis |
|
Lymphadenopathy, Cognitive impairment, Hearing impairment |
ORPHA:858 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... |
ORPHA:2198 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphadenopathy, Hepatosplenomega... |
OMIM:615559 |
Infantile Krabbe Disease |
|
Seizure, Optic atrophy, Opisthotonus, Myoclonus, Generalized myoclonic seizure, Decreased nerve c... |
ORPHA:206436 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Hematuria, Tracheoesophageal fistula, Cataract, Furrowed tongue, Corneal dystr... |
ORPHA:1839 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
Mu-Heavy Chain Disease |
|
Nephropathy, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly |
ORPHA:100024 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Harel-Yoon Syndrome |
|
Dystonia, Generalized non-motor (absence) seizure, Optic atrophy |
OMIM:617183 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction |
ORPHA:26790 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:241080 |
Dystonia, Juvenile-Onset |
|
Sensorineural hearing impairment, Achalasia, Pseudobulbar paralysis, Oculogyric crisis, Leg dysto... |
OMIM:607371 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Neoplasm of the pancreas, Lymphadenopathy, Mediastinal lymphadenopathy, Testicu... |
ORPHA:83469 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:612310 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Adrenal... |
ORPHA:231580 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Glomerulonephritis, Lymphadenopathy, Celiac disease, Splenomegaly |
OMIM:619375 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Cleft pal... |
ORPHA:247768 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
OMIM:618852 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis,... |
OMIM:608643 |
Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Lymphadenopathy, Glossitis, Ovarian neoplasm |
ORPHA:2221 |
Meckel Syndrome 12 |
|
Bifid uvula, Ureteral hypoplasia, Antecubital pterygium, Vaginal atresia, Renal hypoplasia, Low-s... |
OMIM:616258 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Recurrent infection of the gastrointestinal tract |
OMIM:605258 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus |
OMIM:617442 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of th... |
OMIM:602450 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Polyuria, Hypercalciuria |
OMIM:613677 |
Hydrolethalus Syndrome 1 |
|
Hydronephrosis, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Accessory spleen, Abnormal p... |
OMIM:236680 |
Cowden Syndrome 1 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:158350 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
Mogs-Cdg |
|
Hypothyroidism, Sensorineural hearing impairment, High palate, Optic atrophy, External genital hy... |
ORPHA:79330 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Corneal erosion, Abnormal large intestinal mucosa morphology, Villous ... |
ORPHA:92050 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis,... |
OMIM:606408 |
Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Hashimoto thyroiditis, Dysphagia, Goiter |
ORPHA:97285 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism |
OMIM:240950 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Sensorineural h... |
ORPHA:1018 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Type II diabetes mellitus, Hematochezia, Cataract, Tremor, Mental deterioration, Me... |
ORPHA:79095 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sensorineural hearing impairment, Pyloric stenosis, Hypoplastic labia majora, Unilateral renal ag... |
OMIM:618419 |
Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia |
OMIM:272800 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Rhabdoid Tumor |
|
Lymphadenopathy, Irritability, Hematuria, Neoplasm of the liver |
ORPHA:69077 |
Cockayne Syndrome A |
|
Splenomegaly, Sensorineural hearing impairment, Renal insufficiency, Optic atrophy, Hypogonadism,... |
OMIM:216400 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Multicystic kidney dysplasia, Renal insufficiency, Aplasia/Hypoplasia of the panc... |
ORPHA:93111 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Abnormality of the gastrointestinal tract, Aganglionic megacolon, ... |
ORPHA:3440 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, EEG with focal epileptiform discharges,... |
ORPHA:98795 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia, Large fleshy ears, Low-set ears, Posteriorly rota... |
OMIM:263210 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Liang-Wang Syndrome |
|
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Generalized tonic seizure, Seizure, EEG abnormality, Generalized non-... |
OMIM:619229 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, High palate, Pulmonary lymphangiectasia, Hepato... |
ORPHA:1655 |
Satoyoshi Syndrome |
|
Malabsorption, Hypoplasia of the uterus |
OMIM:600705 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Microtia |
OMIM:614851 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Lymphadenopathy, Dysphag... |
ORPHA:142 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Sensorineural hearing impairment, Achalasia, Macroglossia, Cataract, Dysphagia, Mental deteriorat... |
ORPHA:79107 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Hypoplasia of the uterus, Primary gonadal insufficienc... |
ORPHA:90796 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Fryns Syndrome |
|
Hydronephrosis, Shawl scrotum, Bicornuate uterus, Aganglionic megacolon, Bifid scrotum, Polysplen... |
OMIM:229850 |
Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Bicornuate uterus, Multilobulated spleen, Pelvic kidney, Horseshoe kidney, Crypto... |
OMIM:601186 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Bifid uvula, Hypoplastic labia majora, Dementia, Poplite... |
OMIM:119500 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Parathyroid adenoma, Neoplasm of the liver, Abnormal tongue morphology, Cerv... |
ORPHA:653 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly |
OMIM:609981 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Optic atrophy, Anxiety, Hepatosplenomegaly, Tre... |
ORPHA:845 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
OMIM:300853 |
Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Developmental And Epileptic Encephalopathy 68 |
|
Myoclonus, Status epilepticus, Exaggerated startle response |
OMIM:618201 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Nephrotic syndrome, Ulcerative colitis, Anal fi... |
OMIM:618935 |
Norrie Disease |
|
Optic atrophy, EEG abnormality, Uterine rupture, Ectopia lentis, Aplasia/Hypoplasia of the lens, ... |
ORPHA:649 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Dysphagia, Medullary thyr... |
ORPHA:1332 |
Sandhoff Disease |
|
Urinary incontinence, Exaggerated startle response, Macroglossia, Hepatosplenomegaly, Orthostatic... |
OMIM:268800 |
Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Anal atresia, Median cleft lip and palate, Cryptorchidism, Renal hypoplasia, L... |
OMIM:264480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Low-set ears, Proteinuria, Bicornuate uterus |
OMIM:191830 |
Hyperekplexia 3 |
|
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... |
OMIM:618534 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Cockayne Syndrome B |
|
Splenomegaly, Sensorineural hearing impairment, Renal insufficiency, Optic atrophy, Hypoplasia of... |
OMIM:133540 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Anxiety, Agoraphobia, Opisthotonus |
OMIM:184850 |
Cerebrotendinous Xanthomatosis |
|
Hypothyroidism, Aggressive behavior, Cognitive impairment, Abnormality of somatosensory evoked po... |
ORPHA:909 |
Tularemia |
|
Conjunctivitis, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphade... |
ORPHA:3392 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Optic nerve compression, Suicidal ideation, Increased circu... |
ORPHA:96253 |
Currarino Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Anal fistula, Perianal abscess, Bicornuate uterus, N... |
OMIM:176450 |
Hyperekplexia 1 |
|
Exaggerated startle response, Myoclonus, Nocturnal seizures, Seizure |
OMIM:149400 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Recurrent infection of the gastrointestinal tract |
OMIM:608184 |
Lig4 Syndrome |
|
Hypothyroidism, Malabsorption, Type II diabetes mellitus, Hypoplasia of penis, Lymphadenopathy, C... |
ORPHA:99812 |
Wagro Syndrome |
|
Aggressive behavior, Decreased testicular size, Emotional lability, Hypoplastic female external g... |
OMIM:612469 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Bicornuate uterus, Hydroureter, Labial hypopl... |
OMIM:300707 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Corneal opacity |
ORPHA:79292 |
Niemann-Pick Disease, Type A |
|
Athetosis, Lymphadenopathy, Irritability, Splenomegaly |
OMIM:257200 |
Sandhoff Disease, Infantile Form |
|
Myoclonic seizure, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:309155 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Optic nerve hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of the u... |
OMIM:617914 |
Mosaic Trisomy 9 |
|
Abnormal fallopian tube morphology, Asplenia, High palate, Hypoplasia of penis, Hypoplastic femal... |
ORPHA:99776 |
Microsporidiosis |
|
Lymphadenitis, Abnormal fallopian tube morphology, Prostatitis, Keratoconjunctivitis, Thyroiditis... |
ORPHA:2552 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, High palate, Hepatosplenomegaly, Lymphadenopathy, Low-set ears, Posteriorly rotat... |
OMIM:619750 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Sensorineural hearing impairment, Seizure, Optic atrophy, Hypsarrhy... |
ORPHA:521426 |
Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Bicornuate uterus, Microtia, Abnormality of the uterus, Hypospadias, Urete... |
ORPHA:2438 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Aniridia, Neoplasm of the liver |
ORPHA:654 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosplenomegaly, Diabetes mellitus, Lymphade... |
ORPHA:1333 |
Pleural Mesothelioma |
|
Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Sensorineural hearing impairment, Splenomegaly |
OMIM:611762 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypoparathyroidism, Nephrocalcinosis, Decreased circulating parathyroid hormone level, ... |
OMIM:146200 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Bifid uvula, Septate vagina, Cleft palate, Splenomegaly,... |
OMIM:270400 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hematuria, Nephritis, Lymphadenopathy, Cervical lymphadenopathy, Chemosis, Proteinuria |
OMIM:614034 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Hepatosplenomegaly, Lymphadeno... |
ORPHA:911 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology |
ORPHA:54251 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 27A |
|
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly |
OMIM:209950 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hydronephrosis, Bicornuate uterus, Hypsarrhythmia, Hydroureter, Hypoplastic labia minora, Hypopla... |
OMIM:269150 |
Teebi Hypertelorism Syndrome 1 |
|
Anxiety, Bicornuate uterus, Shawl scrotum, Hydrocele testis, Panic attack |
OMIM:145420 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Crohn's disease, Type I diabetes mellitus, Proteinuria |
ORPHA:69126 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Dysphagia, High palate, Ectopic anus, Bicornuate uterus, Shawl scrotum, Bi... |
ORPHA:2745 |
Fanconi Anemia |
|
Abnormal testis morphology, Aplasia/Hypoplasia of the iris, Cleft palate, Hearing impairment, Apl... |
ORPHA:84 |
Cinca Syndrome |
|
Progressive sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy, Papilledema, H... |
OMIM:607115 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
OMIM:609541 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Stromme Syndrome |
|
Jejunal atresia, Microcornea, Optic nerve hypoplasia, Cleft palate, Iris coloboma, Peters anomaly... |
OMIM:243605 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Generalized non-m... |
OMIM:301091 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G... |
OMIM:137920 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
H Syndrome |
|
Corneal arcus, Hypogonadism, Decreased testicular size, Enlarged kidney, Malabsorption, Azoosperm... |
ORPHA:168569 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|