Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal eye morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal colon morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Slc17a8em1(IMPC)Mbp HOM   Early adult 1.83×10-06
abnormal adrenal gland morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
cataract Slc17a8em1(IMPC)Mbp HOM Early adult 1.92×10-05
abnormal startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 1.53×10-18
abnormal kidney morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged uterus Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Slc17a8em1(IMPC)Mbp HOM Early adult 4.96×10-12
decreased startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 8.87×10-14

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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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Abnormal vestibular function, 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, Abnormal speech discrimination, ... 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, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Recessive 119
Seizure, Sensorineural hearing impairment OMIM:619615
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Seizure, Sensorineural hearing impairment ORPHA:3465
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Developmental And Epileptic Encephalopathy 81
Myoclonic seizure, Focal clonic seizure, EEG with burst suppression, Infantile spasms, Sensorineu... OMIM:618663
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... ORPHA:725
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Seizure, Abnormality of so... ORPHA:320401
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,... OMIM:618141
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Hearing impairment, Tremor OMIM:312910
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, Vertigo, Myoclonus, Focal-onset seizure, Generalized tonic seizu... ORPHA:2382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Vertigo, ... OMIM:613855
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tremor, EEG with poly... OMIM:617665
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Tremor, Absence seiz... OMIM:618587
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Abnormal antihelix morphology, Cryptorchidism, Hearing impairment OMIM:274205
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E... OMIM:609446
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... OMIM:617771
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... OMIM:616346
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus... OMIM:614018
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, High-frequency sensorineural hearing impairment, Seizure... ORPHA:2590
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Multifocal epileptiform discharges, Myoclonic absence seizure, Myocloni... OMIM:618596
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... ORPHA:98818
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Hyperleucine-Isoleucinemia
Seizure, Sensorineural hearing impairment OMIM:238340
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... OMIM:616409
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Tremor, Sensor... ORPHA:1368
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dystonia, Seizure, Sensorineural hearing impairment ORPHA:1171
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Hearing impairment, Tremor, Optic disc pallor OMIM:165300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Shuffli... ORPHA:52368
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Seizure, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, ... OMIM:617519
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizu... OMIM:617113
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, EEG abnormalit... OMIM:617810
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:620540
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyelid myoclo... OMIM:616421
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... ORPHA:3006
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, EEG abnormality, Bilateral tonic-clonic seizure, Dystonia, Gen... OMIM:617836
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ... OMIM:619913
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Siddiqi Syndrome
Limb dystonia, Seizure, Sensorineural hearing impairment OMIM:618635
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Dravet Syndrome
Epilepsia partialis continua, EEG with generalized epileptiform discharges, Focal impaired awaren... ORPHA:33069
Myoclonic Epilepsy Of Infancy
EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,... ORPHA:86909
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... ORPHA:79137
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph... ORPHA:319487
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Difficulty w... ORPHA:206443
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, EEG with temporal focal spikes, Focal impaired awareness seizure, Exag... ORPHA:163985
Autoimmune Polyendocrinopathy Type 1
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Immunodeficiency 104
Gastroesophageal reflux, Recurrent otitis media, Splenomegaly, Otitis media, Lymphadenopathy OMIM:608971
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure, Torsion dystonia, Dystonia, Choreoathetosis ORPHA:98811
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Prominent ear helix, Large earlobe, Infantile spasms, My... ORPHA:411986
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG abnormality,... OMIM:271980
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... ORPHA:35878
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Depression, Increased circulating cortisol level, Decreased circulating ACT... OMIM:219080
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Generalized non-motor (absence) seizure, Sensorineural hearing impairment, Bilateral ton... OMIM:618170
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic ... OMIM:616211
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney ORPHA:2578
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... ORPHA:1942
Microphthalmia, Syndromic 12
Intestinal malrotation, Bicornuate uterus, Cryptorchidism, Cleft palate OMIM:615524
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Kerion Celsi
Lymphadenopathy ORPHA:499
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti... ORPHA:100083
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Donnai-Barrow Syndrome
Iris coloboma, Abnormality of the uterus, Intestinal malrotation, Sensorineural hearing impairmen... ORPHA:2143
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisis, Generalized-onset seiz... ORPHA:208447
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Intestinal malrot... ORPHA:2970
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Conductive hearing impairment, Azoospermia, Hypoplasia of the uterus, ... OMIM:601076
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal... ORPHA:168491
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Seizure, Vestibular areflexia ORPHA:3240
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Bone marrow hypocellularity, Hypoplasia of the uterus, ... OMIM:619151
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia OMIM:616881
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased circulating cortisol level, Primary hypercortisolism, Emotional lability, A... OMIM:615830
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, P... OMIM:616281
Perrault Syndrome 4
Decreased serum estradiol, Progressive sensorineural hearing impairment, Hypoplasia of the ovary,... OMIM:615300
Muscular Dystrophy, Congenital, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Progressive hearing impairment, Gener... OMIM:620166
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Ureteral dup... ORPHA:1756
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Abnorm... ORPHA:95699
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Tetraamelia Syndrome 1
Low-set ears, Cataract, Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vagi... OMIM:273395
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
4H Leukodystrophy
Optic atrophy, Mental deterioration, Cataract, Decreased response to growth hormone stimulation t... ORPHA:289494
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Restless legs, Gait ataxia, ... ORPHA:101085
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Absence of secondary sex characteristics, Abno... ORPHA:755
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Tinnitus, Abnormal circulating renin, A... ORPHA:369929
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Gluc... ORPHA:404
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Focal tonic seizur... ORPHA:485350
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Ureteropelvic junction obstruction, Sensorineural hea... OMIM:154230
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Sensorineural hearing impairm... OMIM:617201
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyosarcoma, Uteri... ORPHA:523
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... ORPHA:206448
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Anal atresia, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypo... ORPHA:1381
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Depression, Absence of secondary sex characteristics, Non-obstructive azoosper... ORPHA:432
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Sensorineural hearing impairment, E... OMIM:614129
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Dysplastic testes, Partial development of the penile shaft, Cryptorchidi... OMIM:608800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Memory impairment, Increased circulating cortisol level, Pituitary adenoma, Neuroendo... ORPHA:189427
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Renal... OMIM:194072
Developmental And Epileptic Encephalopathy 110
Low-set ears, Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizu... OMIM:620149
Chromosome Xp11.23-P11.22 Duplication Syndrome
Overfolded helix, Posteriorly rotated ears, EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Sensorineural hearing impairment, Hypsarrhythmia, EEG wi... OMIM:616973
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Hearing impairment, Recurrent otitis media, Splenomegaly, Abnormal intesti... ORPHA:397596
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... ORPHA:85450
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Seizure, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Seizure, Sensorineural hearing impairment ORPHA:529799
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Seizure, EEG with generalized slow activity, Exaggerated startle response, Status epilepticus, Ma... OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Seizure, Exaggerated startle response OMIM:620114
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Hearing impairment, Cryptorchidism, Tremor, Hydronephrosis, Exaggerated startle response OMIM:620327
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Auto... ORPHA:99027
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Matthew-Wood Syndrome
Low-set ears, Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, H... ORPHA:2470
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insensi... ORPHA:251274
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Anteverted ... ORPHA:544254
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Lymphadenopathy ORPHA:444463
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Delayed puberty, Hypergonadotropic hypogonadism OMIM:300510
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Limb dystonia, EEG with front... ORPHA:457351
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Myoclonic seizure, Myoclonus, Tonic seizure, EEG abnormality, Bilateral tonic-clon... OMIM:617281
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Colitis, Low-frequency sensorineural hearing i... OMIM:613101
Ovarian Dysgenesis 5
Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating luteinizing hormone lev... OMIM:617690
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Donnai-Barrow Syndrome
Low-set ears, Iris coloboma, Cataract, Hearing impairment, Hypoplasia of the iris, Intestinal mal... OMIM:222448
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Duplication Of Urethra
Clitoral hypertrophy, Urethral stricture, Chordee, Urinary incontinence, Anal atresia, Hypospadia... ORPHA:237
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Sensorineural hearing impairment OMIM:617565
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Cowden Syndrome 5
Cataract, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed tongue, Ovar... OMIM:615108
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Se... ORPHA:206436
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Ile... OMIM:609136
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Low-set, posteriorly rotated ears, Intesti... ORPHA:2059
Omodysplasia 2
Gastroesophageal reflux, Uterus didelphys, Recurrent otitis media, Cryptorchidism, Posteriorly ro... OMIM:164745
Immunodeficiency 76
Colitis, Splenomegaly, Lymphadenopathy OMIM:619164
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir... OMIM:615954
Hyperekplexia 2
Hiatus hernia, Gastroesophageal reflux, Astigmatism, Exaggerated startle response OMIM:614619
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... ORPHA:97289
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Townes-Brocks Syndrome 2
Cupped ear, Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Overfolded helix, A... OMIM:617466
Cowden Syndrome 6
Varicocele, Cataract, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed ... OMIM:615109
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... ORPHA:95232
Woodhouse-Sakati Syndrome
Mental deterioration, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadis... ORPHA:3464
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Hepatosplenomegaly, Stage 5 chronic kidney disease, Follicular hyperplasi... OMIM:615559
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Hearing impairment, Colonic atresi... OMIM:309801
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Progressive sensorineural he... ORPHA:2237
Wolfram Syndrome 1
Optic atrophy, Cataract, Hydroureter, Hearing impairment, Tremor, Sensorineural hearing impairmen... OMIM:222300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Unilateral conductive hearing imp... ORPHA:100084
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Macrotia, Bilateral tonic-clonic seizure OMIM:300558
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Tularemia
Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal adenoid morphology, Otitis media, Co... ORPHA:3392
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Otitis media, Splenomegaly, Aplasia of the thymus, General... OMIM:602450
Fryns Microphthalmia Syndrome
Unicornuate uterus, Macrotia, Bilateral cleft palate OMIM:600776
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Adrenal gland agenesis, Ovotestis, Hypospadias, Cleft palate, Sex reversal OMIM:611812
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Emotional lability, Exaggerated startle response ORPHA:3198
Oeis Complex
Hydroureter, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitali... OMIM:258040
Mast Cell Sarcoma
Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Galactokinase Deficiency
Cataract, Nuclear cataract, Hyperinsulinemia, Hepatosplenomegaly, Sensorineural hearing impairmen... ORPHA:79237
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Cataract, Memory impairment, Depression, Hematochezia, Cholelithiasis, Hypo... ORPHA:79095
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Congenital Toxoplasmosis
Cognitive impairment, Hearing impairment, Lymphadenopathy ORPHA:858
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatosplenomegaly, Sensorineural hearing impairment,... ORPHA:79330
Desmoplastic Small Round Cell Tumor
Ileus, Lymphadenopathy, Testicular neoplasm, Ovarian neoplasm, Mediastinal lymphadenopathy, Neopl... ORPHA:83469
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Meckel Syndrome 12
Low-set ears, Bifid uvula, Renal hypoplasia, Antecubital pterygium, Vaginal atresia, Hypoplasia o... OMIM:616258
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
Pseudomyxoma Peritonei
Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction ORPHA:26790
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Increased circulating cortisol level, Abnormal lymph nod... ORPHA:99889
Zellweger Syndrome
Optic atrophy, Clitoral hypertrophy, Multicystic kidney dysplasia, Cataract, Primary adrenal insu... ORPHA:912
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Vaginal atresia, H... OMIM:617914
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Hereditary Mucoepithelial Dysplasia
Cataract, Abnormal morphology of female internal genitalia, Furrowed tongue, Hematuria, Tracheoes... ORPHA:1839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Tinnitus, Gl... ORPHA:231580
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Harel-Yoon Syndrome
Optic atrophy, Dystonia, Generalized non-motor (absence) seizure OMIM:617183
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy, Celiac disease, Thyroiditis OMIM:619375
Dystonia-Deafness Syndrome 1
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Sensorin... OMIM:607371
Hydrolethalus Syndrome 1
Low-set ears, Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgene... OMIM:236680
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Gastroesophageal reflux, Limb dystonia, Emotional lability, Irr... OMIM:608643
Cockayne Syndrome A
Optic atrophy, Cataract, Abnormal auditory evoked potentials, Dementia, Hypogonadism, Decreased n... OMIM:216400
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Protruding ear, Increased serum testosteron... ORPHA:247768
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Cataract, Uterine neoplasm, Anterior lenticonus, Keratitis, ... ORPHA:1018
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Male hypogonadism, Nephrocalcinosis, Cholelithiasis, Type I diabete... OMIM:240300
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Bone marrow hypocellularity, Hearing impairment, De... OMIM:301108
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Woodhouse-Sakati Syndrome
Hearing impairment, Elevated circulating thyroid-stimulating hormone concentration, Decreased ser... OMIM:241080
Early Infantile Epileptic Encephalopathy
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:1934
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia ORPHA:97285
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Ambiguous genitalia, female, Vesicoureteral reflux, Hiatus hernia, Bic... OMIM:606408
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Depression, Abnormal auditory evoked potentials, Abnormal motor ev... ORPHA:909
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Cognitive impairment, Exaggerated startle response ORPHA:309246
Cowden Syndrome 1
Varicocele, Cataract, Colonic diverticula, Thyroid adenoma, Hearing impairment, Goiter, Furrowed ... OMIM:158350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Accessor... OMIM:618419
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis,... ORPHA:1655
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter,... ORPHA:142
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... OMIM:158330
Waardenburg Syndrome
Conductive hearing impairment, Abnormal vagina morphology, Abnormality of the uterus, Hearing imp... ORPHA:3440
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Lymphadenopathy, Irritability ORPHA:69077
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Hearing impairment, Abnor... ORPHA:93111
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Large fleshy ears, Polycystic kidney dysplasia, Bicornuate uterus, Posteriorly rota... OMIM:263210
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Ectopic pancreatic tissue, Meckel diverticulum, Bifid sc... OMIM:229850
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... ORPHA:64280
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Microtia OMIM:614851
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-... ORPHA:98795
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Decrease... OMIM:133540
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Tay-Sachs Disease
Precocious puberty, Optic atrophy, Memory impairment, Depression, Hearing impairment, Laryngeal d... ORPHA:845
Liang-Wang Syndrome
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset... OMIM:619229
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Polycystic ovaries, Male pseudohe... ORPHA:90796
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Myoclonic absence seizure, Seizure, Dystonia, Choreoathetosis OMIM:616034
Sandhoff Disease
Progressive psychomotor deterioration, Increased urinary N-acetylglucosamine-rich oligosaccharide... OMIM:268800
Developmental And Epileptic Encephalopathy 68
Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Alpha-Mannosidosis, Adult Form
Cataract, Macroglossia, Depression, Oligosacchariduria, Confusion, Hepatosplenomegaly, Recurrent ... ORPHA:309288
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Cataract, Generalized dystonia, Sensorineural hearing impairment, Achalasia... ORPHA:79107
Popliteal Pterygium Syndrome
Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid uvula, Bifid scrotum, Cryptorchi... OMIM:119500
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abno... ORPHA:92050
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Hyperekplexia 3
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response OMIM:614618
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Anal fissure, Hepatosplenomegaly, Splenomegaly, Crohn's dis... OMIM:618935
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Microphthalmia, Syndromic 9
Low-set ears, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronep... OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Low-set ears, Bicornuate uterus OMIM:191830
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Seizure, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hyps... ORPHA:521426
Sandhoff Disease, Infantile Form
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response ORPHA:309155
Stiff-Person Syndrome
Opisthotonus, Depression, Diabetes mellitus, Exaggerated startle response OMIM:184850
Hyperekplexia 1
Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response OMIM:149400
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak o... OMIM:618820
Currarino Syndrome
Anal stenosis, Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Anal fistula, Perianal ab... OMIM:176450
Opitz Gbbb Syndrome
Low-set ears, Thyroglossal cyst, Hearing impairment, Bifid scrotum, Ankyloglossia, Vesicoureteral... ORPHA:2745
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Pseudotrisomy 13 Syndrome
Low-set ears, Renal hypoplasia, Median cleft palate, Cryptorchidism, Adrenal hypoplasia, Micropen... OMIM:264480
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Ureteropelvic junction obstruction, Vesico... ORPHA:2438
Roifman Syndrome
Recurrent otitis media, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Norrie Disease
Abnormal helix morphology, Uterine rupture, Cryptorchidism, Sensorineural hearing impairment, Ant... ORPHA:649
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Absence of lymph node germinal center OMIM:608184
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Niemann-Pick Disease, Type A
Splenomegaly, Athetosis, Lymphadenopathy, Irritability OMIM:257200
Microsporidiosis
Nephritis, Keratitis, Abnormality of the parathyroid gland, Lymphadenitis, Urethritis, Abnormalit... ORPHA:2552
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Low-set ears, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, High palate, Posteriorly rotat... OMIM:619750
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Nephroblastoma
Hematuria, Aniridia, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Cushing Disease
Memory impairment, Depression, Increased circulating cortisol level, Increased urinary cortisol l... ORPHA:96253
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Corneal opacity ORPHA:79292
Mosaic Trisomy 9
Low-set ears, Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney,... ORPHA:99776
Mayer-Rokitansky-Küster-Hauser Syndrome