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Gene: Slc17a8 MGI:3039629

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Slc17a8 mutations

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

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 119
Seizure, Sensorineural hearing impairment OMIM:619615
Worster-Drought Syndrome
Seizure, Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
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
Developmental And Epileptic Encephalopathy 81
Infantile spasms, Focal clonic seizure, Myoclonic seizure, Tonic seizure, EEG with burst suppress... OMIM:618663
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural 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
Myoclonic absence seizure, Focal-onset seizure, Focal clonic seizure, Focal hemiclonic seizure, F... ORPHA:725
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure,... OMIM:615369
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with spike-wave complexes, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:607682
Jeavons Syndrome
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with generalized onset, Interic... ORPHA:139431
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seiz... OMIM:617831
Developmental And Epileptic Encephalopathy 19
EEG with photoparoxysmal response, Status epilepticus, EEG with spike-wave complexes, Myoclonic s... OMIM:615744
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, EEG abnormality, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic ... OMIM:618141
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, ... ORPHA:306
Spastic Paraparesis And Deafness
Tremor, Cataract, Hypogonadism, Hearing impairment OMIM:312910
Epilepsy, Myoclonic Juvenile
Status epilepticus, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Morning myoc... OMIM:254770
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... ORPHA:320401
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Episodic Ataxia, Type 5
EEG with spike-wave complexes, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613855
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Focal impaired... OMIM:616056
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, ... 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
Bilateral tonic-clonic seizure with generalized onset, Seizure, EEG with spike-wave complexes (>3... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Multifocal epileptiform discharges, Myoclonic absence seizure, Myocloni... OMIM:618596
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus without promin... OMIM:617391
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Focal seizure with eyelid myoclonia, Bilateral tonic-clonic seizur... ORPHA:139426
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Tonic seizure, Epileptic spasm, Generalized myoclonic seizure, Seizure, Atypical ... OMIM:617771
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:254800
Developmental And Epileptic Encephalopathy 31A
Hypsarrhythmia, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral ton... OMIM:616346
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Myoclonic seizure, EEG abnormality, Focal motor seizure, Seizure, Generalized... OMIM:617665
Epilepsy, Progressive Myoclonic, 6
EEG with spike-wave complexes, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Trem... OMIM:614018
Developmental And Epileptic Encephalopathy 13
Generalized clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with spike-wave ... OMIM:614558
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Hyperleucine-Isoleucinemia
Seizure, Sensorineural hearing impairment OMIM:238340
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Seizure, Sensorineural hearin... OMIM:617519
Developmental And Epileptic Encephalopathy 74
Infantile spasms, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral t... OMIM:618396
Juvenile Myoclonic Epilepsy
Status epilepticus, Generalized-onset seizure, Febrile seizure (within the age range of 3 months ... ORPHA:307
Lissencephaly 10
Torticollis, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized-onse... OMIM:618873
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-... OMIM:619157
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized clonic seizure, EEG with gener... ORPHA:98818
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Status epilepticus, Focal-onset seizure, F... OMIM:300088
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Lennox-Gastaut Syndrome
Focal-onset seizure, EEG abnormality, Bilateral tonic-clonic seizure, Generalized myoclonic seizu... ORPHA:2382
Cataract-Ataxia-Deafness Syndrome
Tremor, Adult onset sensorineural hearing impairment, Decreased nerve conduction velocity, Sensor... ORPHA:1368
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, High-frequency sensorineural hearing impai... ORPHA:2590
Dravet Syndrome
Generalized clonic seizure, Status epilepticus, Myoclonic seizure, Focal hemiclonic seizure, Foca... OMIM:607208
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Lymphadenopathy, Esophageal ne... ORPHA:70482
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Myoclonic absence seizure, EEG abnormality, Bilateral tonic-clonic seizure, Seizure OMIM:612621
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Focal-onset seizure, Myoclonic seizure, Focal hemiclonic seizure, Toni... OMIM:619317
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Seizure, Optic atrophy, Sensorineural hearing impairment, Dystonia ORPHA:1171
Developmental And Epileptic Encephalopathy 33
Hypsarrhythmia, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Typical absen... OMIM:616409
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Hearing impairment, Tremor, Optic atrophy OMIM:165300
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, EEG with spike-wave... OMIM:619000
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months ... OMIM:604403
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Hypsarrhythmia, Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizu... OMIM:617113
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gener... OMIM:617810
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Focal-onset seizure, EEG with spike-wave complexes, Generalized-onset seizure... ORPHA:36387
Mohr-Tranebjaerg Syndrome
Inability to walk, Absent brainstem auditory responses, Attention deficit hyperactivity disorder,... ORPHA:52368
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, EEG with generalized epileptiform discharges, Status epilepticus, Focal-onset sei... ORPHA:3006
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Unsteady gait, Decreased nerve conduction velocity, Hearing impairment, Abnorma... OMIM:601455
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, EEG abnormality, Bilateral tonic-clonic seizure, Generalized myoclonic... OMIM:617836
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Myoclonic seizure, Tremor, Atonic seizure, Generalized non-motor (absence) seiz... OMIM:616421
Developmental And Epileptic Encephalopathy 103
Hypsarrhythmia, Eyelid myoclonus, Myoclonic seizure, Focal impaired awareness seizure, Tonic seiz... OMIM:619913
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Focal impaired awar... OMIM:616172
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Difficulty walking, Decreased motor nerve conduction velocity,... OMIM:601596
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Siddiqi Syndrome
Seizure, Limb dystonia, Sensorineural hearing impairment OMIM:618635
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Focal hemiclonic seizure, Focal impair... OMIM:619606
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:52416
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Febrile seizure (within the ... ORPHA:101039
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizur... ORPHA:79137
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Developmental And Epileptic Encephalopathy 91
Hypsarrhythmia, Status epilepticus, Myoclonic seizure, Focal motor seizure, Tonic seizure, Bilate... OMIM:617711
Dravet Syndrome
Generalized clonic seizure, EEG with generalized epileptiform discharges, Focal-onset seizure, Fo... ORPHA:33069
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:86909
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Focal-onset seizure, Myoclonic seizure, Clonic seizure, Febrile seizure (with... OMIM:615871
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613863
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Colon cancer, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphade... ORPHA:319487
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Colon cancer, Nodular goiter, Papillary thyroid carcinoma, Chronic noninfectious lymphade... ORPHA:97290
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-mo... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Autoimmune Polyendocrinopathy Type 1
Cataract, Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Incre... ORPHA:3453
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure, EEG wi... ORPHA:163985
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Gonadal dysgenesis with female appearance, male, Gona... ORPHA:168563
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... OMIM:615476
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, EEG with persistent abnormal rhythmic activity, Ataxia, Difficulty walking, Los... ORPHA:206443
Rolandic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Febrile seizure (within the... ORPHA:1945
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypsarrhythmia, Prominent ear helix, Focal impaired awareness seizure, Atonic s... ORPHA:411986
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Burkitt Lymphoma
Abnormality of the ovary, Intestinal obstruction, Abnormal lymph node morphology, Gastrointestina... ORPHA:543
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Dystonia ORPHA:98811
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Epileptic spasm, EEG ... ORPHA:1942
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... ORPHA:35878
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Seizure, Intention tremor, Generalized non-m... OMIM:618170
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:609800
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
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Bicornuate uterus OMIM:258320
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure, Generalized myoclonic seizur... OMIM:271980
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Hearing impairment, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Microphthalmia, Syndromic 12
Cleft palate, Intestinal malrotation, Cryptorchidism, Bicornuate uterus OMIM:615524
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Kerion Celsi
Lymphadenopathy ORPHA:499
Rudiger Syndrome
Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus OMIM:268650
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure... OMIM:619616
Laryngeal Neuroendocrine Tumor
Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Chronic noninfectious lymphade... ORPHA:100083
Deafness, Autosomal Recessive 103
Vestibular areflexia, Abnormal vestibular function, Sensorineural hearing impairment OMIM:616042
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Donnai-Barrow Syndrome
Proteinuria, Iris coloboma, Abnormality of the uterus, Posteriorly rotated ears, Sensorineural he... ORPHA:2143
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia
Emotional lability, Adrenal hyperplasia, Increased circulating cortisol level, Anxiety, Primary h... OMIM:219080
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli... OMIM:612965
Bilateral Generalized Polymicrogyria
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Generalized-onset se... ORPHA:208447
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Immunodeficiency 104
Gastroesophageal reflux, Lymphadenopathy, Splenomegaly OMIM:608971
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:617350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Decreased te... OMIM:202010
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uteru... OMIM:601076
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... OMIM:273250
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Anal atresia, Abnormality of the ureter, Hydroureter, ... ORPHA:2970
Tetraamelia Syndrome 1
Cataract, Low-set ears, Anal atresia, Asplenia, Hypoplasia of the fallopian tube, Absent external... OMIM:273395
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Focal impaired... OMIM:619428
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Seizure, Generalized non-... OMIM:616281
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Ambiguous genitalia OMIM:202110
Deafness, Autosomal Dominant 9
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... OMIM:601369
Perrault Syndrome 4
Hypoplasia of the ovary, Cognitive impairment, Hypoplasia of the uterus, Cleft palate, Decreased ... OMIM:615300
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive hearing impairment, Focal-onset seizure, Myoclonic seizure, Generalized-onset seizure... OMIM:620166
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Glucocortocoid-insensitive primary hyp... ORPHA:404
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Seizure, Dystonia ORPHA:3240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Tinnitus, Abnormal circulating renin, Athetosis, Nephrol... ORPHA:369929
Caudal Duplication
Cryptorchidism, Ureteral duplication, Abnormal penis morphology, Uterus didelphys, Intestinal dup... ORPHA:1756
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Typic... OMIM:620145
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
4H Leukodystrophy
Cataract, Delayed puberty, Decreased response to growth hormone stimulation test, Tremor, Mental ... ORPHA:289494
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Emotional lability, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level,... ORPHA:189439
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexa... ORPHA:403
Leydig Cell Hypoplasia
Cryptorchidism, Aplasia of the uterus, Micropenis, Ambiguous genitalia, Decreased serum testoster... ORPHA:755
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Fused labia majora, Elevate... ORPHA:95699
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Anal atresia, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypo... ORPHA:1381
Periventricular Nodular Heterotopia 7
Infantile spasms, Hypsarrhythmia, Optic disc pallor, Seizure, Generalized non-motor (absence) sei... OMIM:617201
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Vaginal neoplasm, Esophageal neoplasm, Barrett esophagus, Uterine le... ORPHA:523
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux, Multicystic k... OMIM:617805
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Prolonged brainstem auditory evoked potentials, Broad-... ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Inability to walk, Unsteady gait, Absent brainstem auditory responses, Steppage gait... ORPHA:101085
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uteru... OMIM:618117
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Sex Reversal 4
Hydronephrosis, Anal atresia, High palate, Agonadism, Ureteropelvic junction obstruction, Hypopla... OMIM:154230
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... OMIM:611572
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Hypergonadotro... OMIM:614129
Alpha-Heavy Chain Disease
Malabsorption, Lymphadenopathy, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Developmental And Epileptic Encephalopathy 110
Low-set ears, Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizur... OMIM:620149
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, EEG with focal spikes, Focal impaired awareness seizure, Bilateral tonic-clonic... ORPHA:485350
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Lymphadenopath... ORPHA:424019
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level,... OMIM:615830
Chromosome Xp11.23-P11.22 Duplication Syndrome
Overfolded helix, Posteriorly rotated ears, Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, EEG with generalized slow activity grade 4, EEG with spike-wav... ORPHA:168491
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Aniridia, Abnorma... OMIM:194072
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... OMIM:612964
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insensi... ORPHA:251274
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Cryptorchidism, Gastroesophageal reflux, Ambiguous genitalia, male, Testicular dysgenesis, Exagge... OMIM:608800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... ORPHA:90790
Chronic Bilirubin Encephalopathy
Seizure, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Seizure, Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Hereditary Amyloidosis With Primary Renal Involvement
Decreased glomerular filtration rate, Intestinal perforation, Hepatosplenomegaly, Proteinuria, Ab... ORPHA:85450
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Status epilepticus, Optic nerve hypoplasia, Exaggerated startle response, EEG with generalized sl... OMIM:617864
Intellectual Developmental Disorder, Autosomal Dominant 42
EEG with temporal sharp slow waves, Status epilepticus, Focal-onset seizure, Febrile seizure (wit... OMIM:616973
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Ataxia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... ORPHA:99027
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Absence of pubertal development, Hypoplasi... OMIM:614837
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
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Amed Syndrome, Digenic
Adrenal hypoplasia, Bone marrow hypocellularity, Hypoplasia of the uterus OMIM:619151
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
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-mot... OMIM:619338
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Nephrocalcinosis, Chronic kidney disease, Hypoparat... OMIM:146255
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Seizure, Hearing impairment OMIM:620114
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... ORPHA:99429
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Tremor, Anteverted ears, Macrotia, Eating-i... ORPHA:544254
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Diabetes mellitus, Anxiety, Exaggerated startle response, Hypoth... ORPHA:3198
Matthew-Wood Syndrome
Low-set ears, Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Abnormality of the ut... ORPHA:2470
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Infantile spasms, Hypsarrhythmia, Limb dystonia, EEG abnormality, Bilateral tonic-clonic seizure,... ORPHA:457351
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Clitoral hypertrophy, Cleft palate, Hydrocele testis, Congeni... ORPHA:96181
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Colitis, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Spl... OMIM:613101
Kimura Disease
Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Granulomatous Slack Skin
Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response OMIM:617028
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617690
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Emotional lability, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stim... ORPHA:189427
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypothyroidism, Hypoplasia of penis ORPHA:2491
Donnai-Barrow Syndrome
Cataract, Low-set ears, Proteinuria, Iris coloboma, Posteriorly rotated ears, Non-acidotic proxim... OMIM:222448
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... ORPHA:754
Cowden Syndrome 5
Cataract, Goiter, High palate, Hyperthyroidism, Hearing impairment, Hydrocele testis, Intention t... OMIM:615108
Lumbar Syndrome
Anal atresia, Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid ut... ORPHA:83628
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:101070
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Hypoplasia of ... ORPHA:1916
Lafora Disease
Hypsarrhythmia, Status epilepticus, Focal-onset seizure, Focal sensory seizure with visual featur... ORPHA:501
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Fryns Syndrome
Hydronephrosis, Low-set, posteriorly rotated ears, Cryptorchidism, Anal atresia, High palate, Gas... ORPHA:2059
Townes-Brocks Syndrome 2
Anal atresia, Bifid uterus, Cupped ear, Microtia, Vesicoureteral reflux, Rectovaginal fistula, Cr... OMIM:617466
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Micropenis, Epispadias, Urina... ORPHA:237
Perrault Syndrome 6
Streak ovary, Sensorineural hearing impairment, Hypoplasia of the uterus OMIM:617565
Cowden Syndrome 6
Cataract, Goiter, High palate, Hyperthyroidism, Varicocele, Hearing impairment, Hydrocele testis,... OMIM:615109
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormal uterine cervix morphology, Partial vaginal septum, Uterus didelphys ORPHA:3411
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Hypsarrhythmia, EEG with changes in voltage, EEG with spike-wave complexes, Foc... ORPHA:95232
Immunodeficiency 76
Colitis, Lymphadenopathy, Splenomegaly OMIM:619164
Developmental And Epileptic Encephalopathy 49
Clonic seizure, Myoclonic seizure, EEG abnormality, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:617281
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Torticollis, Short-segment aganglionic megacolon, Cryptorchidism, Absent brai... OMIM:609136
Zellweger Syndrome
Cataract, Hydronephrosis, High palate, Cryptorchidism, External ear malformation, Brushfield spot... ORPHA:912
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Anal atresia, Micropenis, Anteriorly placed anus, Iris coloboma, Clitoral hypertrophy, ... OMIM:309801
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response, Gastroesophageal reflux, Astigmatism OMIM:614619
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Insulin-resistant diabetes mellitus, Micropenis, Hypo... ORPHA:3464
Omodysplasia 2
Cryptorchidism, Gastroesophageal reflux, Micropenis, Posteriorly rotated ears, Labial hypoplasia,... OMIM:164745
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Macrotia OMIM:300558
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Diabetes mellitus, Hypoparat... ORPHA:2237
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Increased serum testosterone level, Abnormal circulating estrogen level, Ap... ORPHA:90797
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Male ps... ORPHA:289548
Oeis Complex
Hydronephrosis, Duplicated colon, Cryptorchidism, Absent scrotum, Micropenis, Anal atresia, Anter... OMIM:258040
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Keratoconjunctivitis, Decreased circulating parathyroid hormone level, Nephrocalcinosis... OMIM:240300
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... ORPHA:97289
Middle Ear Neuroendocrine Tumor
Tinnitus, Chronic noninfectious lymphadenopathy, Facial palsy, Carcinoid tumor, Sensorineural hea... ORPHA:100084
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Increased circulating cortisol level, Malignant gastrointestinal tract tumors,... ORPHA:99889
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cl... OMIM:300607
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Cleft palate, Ovotestis, Sex reversal, Adrenal gland agenesis, Hypospadias OMIM:611812
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hypoplasia of the ear cartilage ORPHA:66661
Galactokinase Deficiency
Hepatosplenomegaly, Cataract, Hyperinsulinemia, Hypergonadotropic hypogonadism, Sensorineural hea... ORPHA:79237
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Asparagine Synthetase Deficiency
Hypsarrhythmia, Exaggerated startle response, Seizure, EEG with burst suppression, Macrotia OMIM:615574
Wolfram Syndrome 1
Cataract, Hydronephrosis, Testicular atrophy, Neurogenic bladder, Diabetes mellitus, Hydroureter,... OMIM:222300
Congenital Toxoplasmosis
Cognitive impairment, Lymphadenopathy, Hearing impairment ORPHA:858
Pfapa Syndrome
Malabsorption, Lymphadenopathy, Splenomegaly ORPHA:42642
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Gastroesophageal reflux, Dysphagia, Gastrointestinal hemorrhage, A... ORPHA:2198
Infantile Krabbe Disease
Decreased nerve conduction velocity, Generalized myoclonic seizure, Hearing impairment, Seizure, ... ORPHA:206436
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Elevated circu... OMIM:619203
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Male ps... ORPHA:168558
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Generalized lymphadenopathy, Stage 5 chronic kidney disease, Nephrotic syndro... OMIM:615559
Hereditary Mucoepithelial Dysplasia
Cataract, Abnormal morphology of female internal genitalia, Corneal dystrophy, Hematuria, Anorect... ORPHA:1839
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Exaggerated startle respon... ORPHA:309246
Desmoplastic Small Round Cell Tumor
Ileus, Neoplasm of the pancreas, Lymphadenopathy, Mediastinal lymphadenopathy, Ovarian neoplasm, ... ORPHA:83469
Harel-Yoon Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Mu-Heavy Chain Disease
Lymphadenopathy, Nephropathy, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Lymphadenopathy ORPHA:26790
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Tinnitus, Increased urinary potassium, Glucocortocoid-insensitive primary hy... ORPHA:231580
Woodhouse-Sakati Syndrome
Decreased testicular size, Micropenis, Protruding ear, Diabetes mellitus, Hypoplasia of the fallo... OMIM:241080
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Increased circulating... ORPHA:786
Dystonia, Juvenile-Onset
Cataract, Leg dystonia, Pseudobulbar paralysis, Oculogyric crisis, Generalized dystonia, Achalasi... OMIM:607371
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612310
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Celiac disease, Lymphadenopathy, Thyroiditis, Splenomegaly OMIM:619375
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Limb dystonia, Torticollis, Gastroesophageal reflux, Blepharospasm, Limb trem... OMIM:608643
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Protruding ear, Abnormality of the ovary, Hypoplasia of the u... ORPHA:247768
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Bilateral ton... OMIM:619854
Meckel Syndrome 12
Antecubital pterygium, Low-set ears, Bifid uvula, Hypoplasia of the uterus, Vaginal atresia, Rena... OMIM:616258
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Splenomegaly, Genital ulcers, Lymph node hypoplasia,... OMIM:602450
Denys-Drash Syndrome
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Ambiguous genitalia... OMIM:194080
Testicular Agenesis
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... ORPHA:325124
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Macroglossia, Lymphadenopathy, Glossitis ORPHA:2221
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus OMIM:617442
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Congenital Tufting Enteropathy
Cataract, Anal atresia, Malabsorption, Steatorrhea, Corneal erosion, Villous atrophy, Irritabilit... ORPHA:92050
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Hydrolethalus Syndrome 1
Hydronephrosis, Low-set ears, Adrenal gland dysgenesis, Abnormal pinna morphology, Cleft palate, ... OMIM:236680
Cockayne Syndrome Type 1
Gait disturbance, Absent brainstem auditory responses, Ataxia, Difficulty walking, Hearing impair... ORPHA:90321
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Hypsarrhythmia, Infantile spasms, EEG with spike-wave complexes, Foca... ORPHA:1934
Mogs-Cdg
Hepatosplenomegaly, High palate, Inappropriate antidiuretic hormone secretion, External genital h... ORPHA:79330
Cowden Syndrome 1
Cataract, Goiter, High palate, Hypothyroidism, Hyperthyroidism, Ovarian carcinoma, Varicocele, He... OMIM:158350
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous gen... OMIM:606408
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Lymphadenopathy, Hypothyroidism ORPHA:97285
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:240500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Proteinuria, Gastroesophageal reflux, Keratitis, Stage 5 chronic kidney disease, Chroni... ORPHA:1018
Tay-Sachs Disease
Exaggerated startle response, Dementia, Apathy, Psychomotor deterioration OMIM:272800
Estrogen Resistance Syndrome
Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Abnormality of the adrenal glands,... ORPHA:785
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Low-set ears, Anal atresia, Pyloric stenosis, Ele... OMIM:618419
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:614207
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Hematochezia, Hypogonadism, Memory impairment, Tremor, Mental deterioration, Type II di... ORPHA:79095
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Cockayne Syndrome A
Cataract, Proteinuria, Cryptorchidism, Micropenis, Hypogonadism, Abnormal pinna morphology, Renal... OMIM:216400
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Rhabdoid Tumor
Neoplasm of the liver, Lymphadenopathy, Hematuria, Irritability ORPHA:69077
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, EEG with focal epileptifo... ORPHA:98795
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Conductive hearing impairment, Intestinal obstruction,... ORPHA:3440
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Pyloric stenosis, Horseshoe kidney, Renal Fanconi syndrome, Renal insufficie... ORPHA:93111
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Low-set ears, Posteriorly rotated ears, Large fleshy ears, Bicornuat... OMIM:263210
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Dystonia OMIM:618729
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hydronephrosis, Low-set ears, Cryptorchidism, High palate, Micropenis, Protei... ORPHA:1655
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Hypsarrhythmia, Status epilepticus, Focal-onset seizure, EEG abnormal... OMIM:619229
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Unilateral re... OMIM:158330
Satoyoshi Syndrome
Malabsorption, Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Microtia, Hypoplasia of the uterus, Central hypothyroidism OMIM:614851
Tay-Sachs Disease
Hepatosplenomegaly, Anxiety, Memory impairment, Hearing impairment, Tremor, Exaggerated startle r... ORPHA:845
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Nodular goiter, Dysphagia, Lymphadenopathy, Tracheoesophage... ORPHA:142
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Cataract, Achalasia, Generalized dystonia, Dysphagia, Mental deterioration, Sensori... ORPHA:79107
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uteru... ORPHA:90796
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... OMIM:266810
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Vaginal Atresia
Uterus didelphys, Cervicitis, Imperforate hymen, Transverse vaginal septum, Vaginal atresia, Abno... ORPHA:65681
Immunodeficiency 54
Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Adrenocorticotropic hormone excess OMIM:609981
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Fryns Syndrome
Hydronephrosis, Low-set ears, Cryptorchidism, Shawl scrotum, Esophageal atresia, Anal atresia, Re... OMIM:229850
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid uvula, Dementia, Hypoplasia of the uterus, Hypoplastic labia majora, Cleft ... OMIM:119500
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Elevated circulating parathyroid hormone level, Medullary thyroid c... ORPHA:653
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus OMIM:618201
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Polycystic ovaries, Hypoplasia of the u... OMIM:615363
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Trisomy 10P
Low-set ears, Abnormality of the ear, Low voltage EEG, EEG with focal spikes, Posteriorly rotated... ORPHA:171929
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Sandhoff Disease
Hepatosplenomegaly, Macroglossia, Urinary incontinence, Exaggerated startle response, Orthostatic... OMIM:268800
Norrie Disease
Delayed puberty, Protruding ear, Diabetes mellitus, EEG abnormality, Abnormal cochlea morphology,... ORPHA:649
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Anal fissure, Lymphadenitis, Ulcerative colitis, Nephr... OMIM:618935
Medullary Thyroid Carcinoma
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Dysphagia, Ly... ORPHA:1332
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Low-set ears, Micropenis, Anal atresia, Median cleft lip and ... OMIM:264480
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Proteinuria, Low-set ears, Vaginal atresia OMIM:191830
Microphthalmia, Syndromic 9
Hydronephrosis, Low-set ears, Cryptorchidism, Hypoplastic spleen, Horseshoe kidney, Multilobulate... OMIM:601186
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response, Gastroesophageal reflux OMIM:614618
Cerebrotendinous Xanthomatosis
Suicidal ideation, Optic neuropathy, Cognitive impairment, Abnormal motor evoked potentials, Decr... ORPHA:909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Stiff-Person Syndrome
Agoraphobia, Diabetes mellitus, Anxiety, Exaggerated startle response, Opisthotonus OMIM:184850
Cockayne Syndrome B
Proteinuria, Cryptorchidism, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decrease... OMIM:133540
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Conjunctival hyperemia, Lym... ORPHA:3392
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Splen... OMIM:618534
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Cushing Disease
Emotional lability, Adrenal hyperplasia, Increased circulating ACTH level, Fatiguable weakness of... ORPHA:96253
Hyperekplexia 1
Exaggerated startle response, Seizure, Myoclonus, Nocturnal seizures OMIM:149400
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Childhood Absence Epilepsy
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:64280
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Currarino Syndrome
Anal atresia, Neurogenic bladder, Horseshoe kidney, Urinary incontinence, Septate vagina, Periana... OMIM:176450
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle response, Seizure, Sensori... ORPHA:521426
Nicolaides-Baraitser Syndrome
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:3051
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Absence of lymph node germinal center OMIM:608184
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Ureteropelvic junction obstruction, Abnormality of the urethra, Bicorn... ORPHA:2438
Sandhoff Disease, Infantile Form
Myoclonic seizure, Bilateral tonic-clonic seizure, Exaggerated startle response, Seizure, Myoclonus ORPHA:309155
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Ureteral agenesis, Renal hypop... OMIM:617914
Lig4 Syndrome
Cryptorchidism, Malabsorption, Hypoplasia of penis, Lymphadenopathy, Type II diabetes mellitus, H... ORPHA:99812
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly, Irritability, Athetosis OMIM:257200
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydronephrosis, Low-set ears, Anal atresia, Pelvic kidney, Lop ear, Hydroureter, Clitoral hypertr... OMIM:300707
Microsporidiosis
Keratoconjunctivitis, Keratitis, Glossitis, Corneal ulceration, Abnormal endometrium morphology, ... ORPHA:2552
Wagro Syndrome
Emotional lability, Cataract, Proteinuria, Decreased testicular size, Low-set ears, Anxiety, Hypo... OMIM:612469
Nephroblastoma
Aniridia, Lymphadenopathy, Hematuria, Neoplasm of the liver ORPHA:654
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Low-set ears, High palate, Posteriorly rotated ears, Lymphadenopathy, Hypothy... OMIM:619750
Mosaic Trisomy 9
Hydronephrosis, Low-set ears, Cryptorchidism, High palate, Asplenia, Horseshoe kidney, Multiple r... ORPHA:99776
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Sensorineural hearing impairment OMIM:611762
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Neoplasm of the liver, Colon cancer, Diabetes mellitus, Ovarian carcinoma, Pa... ORPHA:1333
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Anxiety, Hydrocele testis, Panic attack, Bicornuate uterus OMIM:145420
Hypoparathyroidism, Familial Isolated, 1
Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hypoparathyroidism, ... OMIM:146200
Smith-Lemli-Opitz Syndrome
Self-mutilation, Ambiguous genitalia, Bifid uvula, Ureteropelvic junction obstruction, Hearing im... OMIM:270400
Heme Oxygenase 1 Deficiency
Proteinuria, Chemosis, Cervical lymphadenopathy, Asplenia, Lymphadenopathy, Hematuria, Nephritis OMIM:614034
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Lymphadenitis, Colitis, Ne... ORPHA:911
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology ORPHA:54251
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 27A
Hepatosplenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Splenomegaly OMIM:209950
Opitz Gbbb Syndrome
Hydronephrosis, Low-set ears, Cryptorchidism, Shawl scrotum, Anal atresia, High palate, Tracheoes... ORPHA:2745
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Hydronephrosis, Low-set ears, Ureteral stenosis, Splenopancreatic fusion, Micropeni... OMIM:269150
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Papa Syndrome
Proteinuria, Lymphadenopathy, Type I diabetes mellitus, Crohn's disease ORPHA:69126
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Hydroureter, Hearing impairment, Cleft palate, Aplasia/Hypoplasi... ORPHA:84
Cinca Syndrome
Hepatosplenomegaly, Papilledema, Hearing impairment, Progressive sensorineural hearing impairment... OMIM:607115
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Abnormality of the ovary, Abnormality of the ... ORPHA:2975
Stromme Syndrome
Cataract, Hydronephrosis, Low-set ears, Iris coloboma, Duodenal atresia, Jejunal atresia, Optic n...