Gene Summary

Name:
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
Synonyms:
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
enlarged uterus Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Slc17a8em1(IMPC)Mbp HOM   Early adult 2.16×10-06
abnormal uterus morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
cataract Slc17a8em1(IMPC)Mbp HOM Early adult 3.74×10-05
decreased startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 8.84×10-14
abnormal startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 1.33×10-18
abnormal kidney morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes 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 adrenal gland morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00

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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
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
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment, Seizure OMIM:619615
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Seizure ORPHA:3465
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Developmental And Epileptic Encephalopathy 81
Sensorineural hearing impairment, Tonic seizure, Focal clonic seizure, Infantile spasms, Myocloni... OMIM:618663
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction 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
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
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 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... OMIM:615369
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
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
EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizu... OMIM:617831
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Cataract, Hypogonadism OMIM:312910
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Developmental And Epileptic Encephalopathy 19
Status epilepticus, EEG with photoparoxysmal response, Atonic seizure, Focal hemiclonic seizure, ... OMIM:615744
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Generalized non-motor (absence) seizur... OMIM:618141
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract, Cryptorchidism OMIM:274205
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, EEG with spike-wave complexes, Myoclonus, EEG ... OMIM:613855
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Action tremor, EEG abnormality, EEG with polyspike wave ... OMIM:617665
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure, Multifocal epileptiform d... OMIM:618596
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Seizure OMIM:238340
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon... OMIM:254800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, Tremor, B... OMIM:614018
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Typical absence seizure, Bilateral tonic-clonic seizure with ge... ORPHA:2590
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... ORPHA:307
Lissencephaly 10
Torticollis, Atypical absence seizure, Atonic seizure, EEG abnormality, Focal impaired awareness ... OMIM:618873
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:617771
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Interictal epileptiform activity, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized ... OMIM:619157
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Tremor, Decreased nerve conduction velocity, Adult onset sensor... ORPHA:1368
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Dystonia, Seizure ORPHA:1171
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... OMIM:609446
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Cataract, Hearing impairment OMIM:165300
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, EEG abnormality, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Myoc... OMIM:619317
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, EEG abnormality, Myoclonic seizure, Optic atrophy, Tremor, Bilateral tonic-clonic... OMIM:617810
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Opisth... OMIM:619913
Siddiqi Syndrome
Sensorineural hearing impairment, Limb dystonia, Seizure OMIM:618635
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonic... OMIM:617836
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Adenomyosis
Adenomyosis OMIM:600458
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... OMIM:615476
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Dravet Syndrome
Atypical absence seizure, Action tremor, Focal hemiclonic seizure, Focal impaired awareness seizu... ORPHA:33069
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Myoclonus... ORPHA:86909
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimu... ORPHA:90793
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:97290
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone concentration,... ORPHA:168563
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Intestinal obstruction, Gastrointestin... ORPHA:543
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Atonic seizure, Focal impaired awareness seizure, Generalized... ORPHA:411986
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... ORPHA:1945
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... ORPHA:163985
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Generalized non-motor (absence) seizure, Torsion dystonia, Dystonia, Seizure ORPHA:98811
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Ectopic kidney, Azoospermia, Hearing impairment ORPHA:2578
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... ORPHA:35878
Kerion Celsi
Lymphadenopathy ORPHA:499
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Sensorineural hearing impairment, Intention tremor, Bilateral tonic-clonic seizure, Generalized n... OMIM:618170
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, EEG with focal spike waves... ORPHA:1942
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Micropenis OMIM:268650
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le... ORPHA:90791
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Mental deterioration, Anxiety, Adrenal hyperplasia, Primary... OMIM:219080
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
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:271980
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Bicornuate uterus, Intestinal malrotation, Iris coloboma, Abnor... ORPHA:2143
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Immunodeficiency 104
Lymphadenopathy, Gastroesophageal reflux, Splenomegaly OMIM:608971
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Cryptorchidism, Intestinal atresia, Cognitive impairment,... ORPHA:2970
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilate... OMIM:601076
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome OMIM:202110
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Tetraamelia Syndrome 1
Anal atresia, Urethral atresia, Absent external genitalia, Cleft palate, Hypoplasia of the fallop... OMIM:273395
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Seizure, Vestibular areflexia ORPHA:3240
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Low-set ears, P... OMIM:616281
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Cognitive imp... OMIM:615300
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Intestinal duplication, Ureteral duplication, Crypto... ORPHA:1756
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Perrault Syndrome 3
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Congenital sensorineural hearin... OMIM:614129
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty OMIM:618117
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Continuous spike and w... OMIM:619428
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Mental deterioration, Hypogonadotropic hyp... ORPHA:289494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased serum testosterone concentration, Mi... OMIM:614841
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptor... ORPHA:1381
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... ORPHA:206448
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Athetosis, Tinnitus, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldos... ORPHA:369929
Familial Hyperaldosteronism Type Ii
Tinnitus, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Gluc... ORPHA:404
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Cryptorchid... ORPHA:755
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Familial Hyperaldosteronism Type I
Tinnitus, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexa... ORPHA:403
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Hydronephrosis, Vesico... OMIM:617805
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Sex reversal, High palate, Hypoplasia of the uterus, Anal atres... OMIM:154230
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Decreased circulating androgen concentr... ORPHA:95699
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Uterine leiomyosarcoma, Cataract, Vagi... ORPHA:523
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Hypospadias, Male pseudohermaphroditism, Absent scrotum, Adrenal hyper... OMIM:201810
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Lymphadenopathy, Splenomegaly ORPHA:100025
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, EEG with photoparoxysmal response, Cortical myoclonus, Atonic seizure, E... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re... OMIM:194072
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... ORPHA:424019
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Normosmic Congenital Hypogonadotropic Hypogonadism
Congenital sensorineural hearing impairment, Hypoplasia of the uterus, Hypoplasia of the ovary, C... ORPHA:432
X-Linked Non-Syndromic Intellectual Disability
Moderate sensorineural hearing impairment, Bilateral tonic-clonic seizure, Generalized non-motor ... ORPHA:777
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Emotional la... OMIM:615830
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral t... ORPHA:485350
Chromosome Xp11.23-P11.22 Duplication Syndrome
Overfolded helix, EEG abnormality, Posteriorly rotated ears, Generalized non-motor (absence) seizure OMIM:300801
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
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus 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
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Seizure ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Seizure ORPHA:529808
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Proteinuria, Hypogonadism, Gastrointestinal hemorrhage, Abn... ORPHA:85450
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Unilateral renal agenesis, Intestinal malrotation, Sp... OMIM:156810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... ORPHA:90790
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome,... OMIM:146255
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Amed Syndrome, Digenic
Bone marrow hypocellularity, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology,... ORPHA:2470
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Tinnitus, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensi... ORPHA:251274
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Focal impaired awareness seizure, Overfolded helix, Infantile spasms, EEG wit... OMIM:616973
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Generalized-onset seizure, Macrotia, Eating-induced seizure, Anteverted ears, Myoclonic a... ORPHA:544254
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Low-frequency sensorineural hearing impairment, Splenomegaly, Hepatosplenomegaly, Lympha... OMIM:613101
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Kimura Disease
Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Uterus didelphys, Hypoplasia of penis ORPHA:2491
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi... ORPHA:96181
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Low-set ears, Non-acidotic proximal tubulopathy, Bicornuate ute... OMIM:222448
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Lumbar Syndrome
Ectopic anus, Anal atresia, Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrop... ORPHA:83628
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Delayed puberty, Streak ovary OMIM:300510
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
Immunodeficiency 76
Lymphadenopathy, Colitis, Splenomegaly OMIM:619164
Townes-Brocks Syndrome 2
Anal atresia, Microtia, Overfolded helix, Hypospadias, Cupped ear, Bifid uterus, Crossed fused re... OMIM:617466
Fryns Syndrome
High palate, Ectopic anus, Corneal opacity, Anal atresia, Duodenal atresia, Bicornuate uterus, Cl... ORPHA:2059
Cowden Syndrome 5
Hydrocele testis, High palate, Hyperthyroidism, Intention tremor, Ovarian cyst, Goiter, Hamartoma... OMIM:615108
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Macrotia OMIM:300558
Lafora Disease
Status epilepticus, Erratic myoclonus, Atypical absence seizure, Atonic seizure, Focal impaired a... ORPHA:501
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Perrault Syndrome 6
Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary OMIM:617565
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos ORPHA:3411
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Zellweger Syndrome
Sensorineural hearing impairment, High palate, Corneal opacity, EEG abnormality, Malabsorption, C... ORPHA:912
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Kennerknecht syndrome
High palate, Abnormal pinna morphology, Hypoplasia of the uterus, Malrotation of colon, Agonadism OMIM:600908
Cowden Syndrome 6
Hydrocele testis, High palate, Hyperthyroidism, Ovarian cyst, Intention tremor, Goiter, Hamartoma... OMIM:615109
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, EEG abnormality, EEG with frontal sharp slow waves, Generalized... ORPHA:457351
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Anorectal anomaly, Chordee, Anal a... ORPHA:237
Woodhouse-Sakati Syndrome
Protruding ear, Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentr... ORPHA:3464
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Cleft palate, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Po... ORPHA:2237
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Abnormal circulating estrogen level, Blind vagina... ORPHA:90797
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Focal motor seizure, Atonic seizure, EEG with changes in voltage, Focal... ORPHA:95232
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Hypothyroidism, Emotional lability, Diabetes ... ORPHA:3198
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Oeis Complex
Anal atresia, Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous ge... OMIM:258040
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldosterone leve... OMIM:240300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Recurrent infection of the gastrointestinal tract OMIM:605258
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Anal atresia, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Ovotestis... OMIM:309801
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Hypoplasia of the ear cartilage, Splenomegaly ORPHA:66661
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Pfapa Syndrome
Malabsorption, Lymphadenopathy, Splenomegaly ORPHA:42642
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormal circulating hormone... ORPHA:314478
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphad... OMIM:615559
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Hydroureter, Optic atrophy, Tremor, Hypothy... OMIM:222300
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Cleft palate, Hypospadias, Ovotestis, Low-set ears, Adrenal gland agenesis OMIM:611812
Galactokinase Deficiency
Sensorineural hearing impairment, Increased level of galactitol in urine, Hyperinsulinemia, Nucle... ORPHA:79237
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Seizure OMIM:300607
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Abnormal pinna morphology, Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy, Anal steno... OMIM:300707
Dystonia, Juvenile-Onset
Sensorineural hearing impairment, Leg dystonia, Pseudobulbar paralysis, Cleft palate, Oculogyric ... OMIM:607371
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mu-Heavy Chain Disease
Lymphadenopathy, Nephropathy, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Hematuria, Abnormal morphology of female internal genitalia, Furrowed ... ORPHA:1839
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Infantile Krabbe Disease
Decreased nerve conduction velocity, Generalized myoclonic seizure, Opisthotonus, Myoclonus, Opti... ORPHA:206436
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Hiatus hernia, Bicornuate uterus, Unilateral renal agenesis, Vesicou... OMIM:606408
Congenital Toxoplasmosis
Hearing impairment, Lymphadenopathy, Cognitive impairment ORPHA:858
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal pinna morphology, Cleft palate, Hypospadias, Bifid uterus, A... OMIM:236680
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Hyperekplexia 2
Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia, Astigmatism OMIM:614619
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Inflammation of the large intestine ORPHA:26790
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular neopla... ORPHA:83469
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy, Celiac disease, Thyroiditis OMIM:619375
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Protruding ear, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Acquired Hypertrichosis Lanuginosa
Glossitis, Lymphadenopathy, Ovarian neoplasm, Macroglossia ORPHA:2221
Harel-Yoon Syndrome
Optic atrophy, Dystonia, Generalized non-motor (absence) seizure OMIM:617183
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Hypoplasia of the uterus, Decreased serum testo... OMIM:241080
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Tinnitus, Adrenal hyperplasia, Decreased circulating renin level, Gl... ORPHA:231580
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus OMIM:615363
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Genital ulcers, Generalized lymphadenopathy, Lymph node hypo... OMIM:602450
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Asparagine Synthetase Deficiency
Hypsarrhythmia, Exaggerated startle response, Seizure, Macrotia OMIM:615574
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Cowden Syndrome 1
Hydrocele testis, High palate, Hyperthyroidism, Ovarian cyst, Intention tremor, Goiter, Hamartoma... OMIM:158350
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Goiter, Lymphadenopathy ORPHA:97285
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Anal atresia, Hypoplasia of the uterus, Unilateral renal agenes... OMIM:618419
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:240500
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Cockayne Syndrome A
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Decreased ... OMIM:216400
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Sensorineural hearing impairment, Keratitis, Chronic kidney disease, Esophageal neoplasm, Uterine... ORPHA:1018
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:603552
Waardenburg Syndrome
Conductive hearing impairment, Abnormal vagina morphology, Aplasia/Hypoplasia of the colon, Abnor... ORPHA:3440
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Type II diabetes mellitus, Mental deterioration, Memory impairment, Hematochezia,... ORPHA:79095
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Early Infantile Epileptic Encephalopathy
Atonic seizure, EEG abnormality, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Rhabdoid Tumor
Neoplasm of the liver, Lymphadenopathy, Hematuria, Irritability ORPHA:69077
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Mullerian Aplasia And Hyperandrogenism
Abnormality of the endocrine system, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopi... OMIM:158330
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Cervical lymphadenopathy, Elevated circulating parathyroid hormone l... ORPHA:653
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, High pal... ORPHA:79330
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Microtia OMIM:614851
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment, Macroglossia, Mental deterioration, Cataract, Dysphagia, Achala... ORPHA:79107
Satoyoshi Syndrome
Malabsorption, Hypoplasia of the uterus OMIM:600705
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Multilobulated spleen, Bicornuate uterus, Renal hypopla... OMIM:601186
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Hypergonadotropic hypogonadism, Primary gonadal ins... ORPHA:90796
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Bicornuate uterus, Polycystic kidney dysplasia, Low-set ears, Posteriorly rota... OMIM:263210
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Gastroesophageal reflux, Oculogyric cri... OMIM:608643
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... ORPHA:98795
Liang-Wang Syndrome
Status epilepticus, Dystonia, Generalized non-motor (absence) seizure OMIM:618729
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Cryptorchidism, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenome... ORPHA:1655
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, EEG abnormality, EEG with focal spike waves, Generalized tonic seizure, Myocl... OMIM:619229
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Dysphagia, Nodular goiter, Goiter, Lymph... ORPHA:142
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Cleft palate, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, P... OMIM:119500
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Lymphadenopathy, Splenomegaly OMIM:609981
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Dysphagia, Elevated c... ORPHA:1332
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Fryns Syndrome
Anal atresia, Duodenal atresia, Abnormal helix morphology, Cryptorchidism, Bicornuate uterus, Bif... OMIM:229850
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Pseudotrisomy 13 Syndrome
Anal atresia, Cryptorchidism, Bicornuate uterus, Micropenis, Adrenal hypoplasia, Renal hypoplasia... OMIM:264480
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lym... OMIM:618935
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Norrie Disease
Abnormal helix morphology, Optic atrophy, Cataract, Ectopia lentis, Abnormal pupil morphology, Se... ORPHA:649
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Anxiety, Cataract, Proteinuria, Decreased testicular size, Emotional lability, H... OMIM:612469
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Absence of secondary... ORPHA:785
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:909
Lig4 Syndrome
Malabsorption, Type II diabetes mellitus, Hypoplasia of penis, Hypothyroidism, Cryptorchidism, Ly... ORPHA:99812
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Low-set ears, Proteinuria OMIM:191830
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... ORPHA:96253
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mosaic Trisomy 9
High palate, Corneal opacity, Hypoplasia of penis, Cryptorchidism, Cleft palate, Intestinal malro... ORPHA:99776
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Absence of lymph node germinal center OMIM:608184
Microsporidiosis
Keratitis, Corneal ulceration, Adrenocortical abnormality, Prostatitis, Nephritis, Abnormal endom... ORPHA:2552
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Aniridia, Hematuria ORPHA:654
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Hepatosplenomegaly, Hypothyroidism, Low-set ears, Lymphadenopathy, Posteriorly rotat... OMIM:619750
Currarino Syndrome