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Gene: Slc17a8 MGI:3039629

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Gene Summary

Name:
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
Synonyms:
Vgt3,  Vglut3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged uterus Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Slc17a8em1(IMPC)Mbp HOM   Early adult 2.07×10-06
abnormal adrenal gland morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
cataract Slc17a8em1(IMPC)Mbp HOM Early adult 3.19×10-05
decreased startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 4.38×10-12
decreased prepulse inhibition Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Slc17a8em1(IMPC)Mbp HOM Early adult 7.02×10-16
abnormal colon morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 1.04×10-18

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Slc17a8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc17a8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583

The table below shows human diseases predicted to be associated to Slc17a8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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