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
enlarged lymph nodes Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Slc17a8em1(IMPC)Mbp HOM   Early adult 2.35×10-06
abnormal startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 1.38×10-18
abnormal adrenal gland morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Slc17a8em1(IMPC)Mbp HOM Early adult 4.96×10-12
abnormal kidney morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal colon morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
enlarged uterus Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Slc17a8em1(IMPC)Mbp HOM Early adult 8.84×10-14
decreased prepulse inhibition Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Slc17a8em1(IMPC)Mbp HOM Early adult 0.00
cataract Slc17a8em1(IMPC)Mbp HOM Early adult 3.80×10-05

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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
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment, Seizure OMIM:619615
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment, Seizure OMIM:618295
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Seizure ORPHA:3465
Deafness, Autosomal Recessive 2
Vestibular dysfunction, Sensorineural hearing impairment, Vertigo OMIM:600060
Developmental And Epileptic Encephalopathy 81
Tonic seizure, Sensorineural hearing impairment, Focal clonic seizure, EEG with burst suppression... OMIM:618663
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
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
Vestibular dysfunction, 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 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Interictal epileptiform activity, Atonic seizure, Focal hemiclonic seiz... 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
Deafness, Autosomal Recessive 37
Vestibular dysfunction, Bilateral sensorineural hearing impairment, Sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Developmental And Epileptic Encephalopathy 94
Tonic seizure, EEG with generalized spikes, Atonic seizure, Visually-induced seizure, Generalized... OMIM:615369
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Atonic seizure, Focal s... ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Generalized myoclonic seizure, Tremor, Generalized non-motor (absence) seizure, ... OMIM:617831
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
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 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 59
Sensorineural hearing impairment OMIM:612642
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 35
Sensorineural hearing impairment OMIM:608565
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, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
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, 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 Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
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
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, EEG with photoparoxysmal response, EEG with spike-wave ... OMIM:615744
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Focal motor seizure, Focal clonic seizure, Bilateral tonic-clon... ORPHA:306
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Ataxia, Abnorma... ORPHA:320401
Spastic Paraparesis And Deafness
Hearing impairment, Cataract, Hypogonadism, Tremor OMIM:312910
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Generalized non-motor (absence) seizure, Bilateral tonic-clonic ... OMIM:254770
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, EEG with spike-wave complexes (>3.5 Hz), Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Episodic Ataxia, Type 5
Atypical absence seizure, EEG with generalized spikes, EEG with spike-wave complexes, Febrile sei... OMIM:613855
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Gait d... OMIM:125250
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Multifocal epileptiform discharges, Myocloni... OMIM:618596
Developmental And Epileptic Encephalopathy 56
EEG abnormality, Action tremor, EEG with polyspike wave complexes, Generalized non-motor (absence... OMIM:617665
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Tremor, EEG with... OMIM:618587
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Seizure OMIM:238340
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, EEG with spik... ORPHA:139426
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Myoclonic Epilepsy Of Unverricht And Lundborg
Interictal epileptiform activity, EEG with spike-wave complexes, EEG with polyspike wave complexe... OMIM:254800
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment, Gai... OMIM:601455
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, EEG with polyspike wave com... OMIM:607682
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, High-frequency sensorineural hearing impairment, Sensorineural ... ORPHA:2590
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with polyspike wave complexes,... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with polyspike wave complexes,... OMIM:607681
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Seizure, Absent brainstem audito... OMIM:617519
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure, Hypsarrhythmia OMIM:617771
Lissencephaly 10
Atypical absence seizure, EEG abnormality, Tonic seizure, Atonic seizure, Myoclonic seizure, Gene... OMIM:618873
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Interictal epileptiform activity, Dystonia, Focal-onset seizure, Bilateral ton... OMIM:619157
Landau-Kleffner Syndrome
Atypical absence seizure, Focal motor seizure, Focal myoclonic seizure, EEG with generalized epil... ORPHA:98818
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Decreased nerve conduction velocity, Adult onset sensorineural ... ORPHA:1368
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Dystonia, Seizure, Optic atrophy ORPHA:1171
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... ORPHA:307
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Atypical absence seizure, Atonic seizure, Gener... ORPHA:2382
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (a... OMIM:609446
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Dystonia, Focal hemiclonic seizure, Myoclonic absence seizure, ... OMIM:619317
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Hydatidiform Mole
Hyperthyroidism, Enlarged uterus ORPHA:99927
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Generalized non-motor (absence) seizur... OMIM:618141
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Hearing impairment, Tremor OMIM:165300
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Lymphaden... ORPHA:70482
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wit... ORPHA:1941
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Tremor, Focal-onset sei... ORPHA:36387
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Pyridoxine-Dependent Epilepsy
EEG with generalized slow activity, Atonic seizure, Focal aware motor seizure, Focal-onset seizur... ORPHA:3006
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonic absence seizure, Increased theta frequency ... OMIM:619000
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, EEG abnormality, Atonic seizure, Bilateral tonic-clonic seizure, Generalized n... OMIM:617810
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Shuffling gait, Prelingua... ORPHA:52368
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral to... OMIM:617836
Siddiqi Syndrome
Sensorineural hearing impairment, Seizure, Limb dystonia OMIM:618635
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Seizure, Myoclonus, Tremor OMIM:614018
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, EEG abnormality, Focal-onset seizure, Generalized-onset ... OMIM:615476
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Multifocal epilep... OMIM:619606
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, EEG with spike-wave comp... ORPHA:79137
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Ataxia, Absent brainstem auditory r... ORPHA:1215
Dravet Syndrome
Photosensitive myoclonic seizure, EEG with focal epileptiform discharges, Atypical absence seizur... ORPHA:33069
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias, Renal salt wasting OMIM:201710
Myoclonic Epilepsy Of Infancy
EEG with irregular generalized spike and wave complexes, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Colon cancer, Chronic noninfectious ... ORPHA:319487
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Alpha-Heavy Chain Disease
Splenomegaly, Abnormality of the small intestine, Malabsorption, Lymphadenopathy, Premature ovari... ORPHA:100025
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Colon cancer, Chronic noninfectious ... ORPHA:97290
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Abnormal intestine morphology, Splenomegaly, Lymphadenopathy OMIM:618495
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Tremor OMIM:616421
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Cataract, Dec... ORPHA:3453
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Abnormality of ... ORPHA:543
Ovarian Dysgenesis 2
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... OMIM:300510
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Atonic seizure, Prominent ear helix, Multifocal epileptiform discharges, Generaliz... ORPHA:411986
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Decreased nerve conduction velocity, Prol... ORPHA:206443
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, EEG with irregular generalized spike a... ORPHA:1945
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Intention tremor, Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Generalized n... OMIM:618170
Hyperekplexia-Epilepsy Syndrome
Focal impaired awareness seizure, Generalized tonic seizure, EEG with temporal focal spikes, Exag... ORPHA:163985
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Abnormality of the outer ear,... OMIM:201050
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, Atonic seizure, EEG with ir... ORPHA:1942
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Hearing impairment ORPHA:2578
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Kerion Celsi
Lymphadenopathy ORPHA:499
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting, Hypospadias OMIM:201910
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Increased serum serotonin, Chronic... ORPHA:100083
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Anxiety, Mental deterioration, Primary hypercortisolism, Emotio... OMIM:219080
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-m... OMIM:271980
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Dystonia, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Oculo... ORPHA:178469
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Perrault Syndrome 4
Cognitive impairment, Decreased serum estradiol, Bicornuate uterus, Progressive sensorineural hea... OMIM:615300
Donnai-Barrow Syndrome
Proteinuria, Sensorineural hearing impairment, Intestinal malrotation, Abnormality of the uterus,... ORPHA:2143
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non... OMIM:619616
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract, Aminoaciduria ORPHA:2278
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Generalized non-motor (absence) seizure, Seizure, Dystonia ORPHA:98811
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 circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Conductive hearing impairment, Bicornuate... OMIM:601076
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:616281
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Azoospermia, ... OMIM:614837
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia OMIM:202110
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Elevated circulating luteinizing ho... OMIM:273250
Tetraamelia Syndrome 1
Low-set ears, Adrenal gland agenesis, Cataract, Vaginal atresia, Anal atresia, Absent external ge... OMIM:273395
Prune Belly Syndrome
Cognitive impairment, Abnormality of the ureter, Cryptorchidism, Intestinal malrotation, Renal in... ORPHA:2970
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Atonic seizure, Generalized-onset seizure, Oculogyric crisis, General... ORPHA:208447
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Hypoplasia of the antihelix, Cataract, Abnormal antihelix morphology, Hearing imp... ORPHA:2489
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Seizure, Head titubation ORPHA:3240
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Atypical absence seizure, Tonic seizure, Head tremor, ... OMIM:619428
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Perrault Syndrome 3
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Conge... OMIM:614129
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Aplasia of the uterus, Female hypog... ORPHA:755
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Uterus d... ORPHA:1756
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus OMIM:618117
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Anal atresia, Hypo... ORPHA:1381
Primary Pigmented Nodular Adrenocortical Disease
Cognitive impairment, Memory impairment, Nephrolithiasis, Testicular neoplasm, Increased urinary ... ORPHA:189439
Adult Krabbe Disease
EEG abnormality, Ataxia, Prolonged brainstem auditory evoked potentials, Gait disturbance, Broad-... ORPHA:206448
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619665
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased serum testosterone concentra... OMIM:614841
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dystonia, Abnormality of thyroid physiology, Cataract, Mental dete... ORPHA:289494
Familial Hyperaldosteronism Type Ii
Tinnitus, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory a... ORPHA:404
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Middle Ear Neuroendocrine Tumor
Tinnitus, Abnormality of the auditory canal, Unilateral conductive hearing impairment, Sensorineu... ORPHA:100084
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Tinnitus, Adrenal hyperplasia, Nephrolithiasis, Athetosis, Hyperaldosteronism, Abnormal circulati... ORPHA:369929
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, Vesico... OMIM:617805
Familial Hyperaldosteronism Type I
Tinnitus, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, Secretory a... ORPHA:403
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Inability to walk, Steppage gait, Decre... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Cognitive impairment, Cataract, Head tremor, Dementia, Abnormal sperm ... ORPHA:320391
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma, Barrett esophagus, Vagi... ORPHA:523
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Cortical myoclonus, Atonic seizure, EEG with series of focal ... ORPHA:168491
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnorm... ORPHA:95699
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
46,Xy Sex Reversal 4
High palate, Hypoplastic labia majora, Sensorineural hearing impairment, Hydronephrosis, Agonadis... OMIM:154230
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
X-Linked Non-Syndromic Intellectual Disability
Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Facial palsy, Ge... ORPHA:777
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Anxiety, Micropenis, Decrease... ORPHA:432
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Aniridia, ... OMIM:194072
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary, Sensorineural hearing im... OMIM:617565
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Anal canal squamou... ORPHA:424019
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
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Emotional lability, Diabetes mellitus, Adrenal hyperplasia, Increased c... OMIM:615830
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
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
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Cataract, Decreased serum testosterone concentration, Premature ovarian insufficiency, ... ORPHA:101006
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic s... ORPHA:485350
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... OMIM:156810
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure ORPHA:529808
Galactokinase Deficiency
Hepatosplenomegaly, Hyperinsulinemia, Psychomotor deterioration, Sensorineural hearing impairment... ORPHA:79237
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure ORPHA:529799
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Gastrointestinal hemorrhage, Proteinuria, Oligospermia, Abnormality of th... ORPHA:85450
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Anteverted ears, Myoclonic absence seizure, Eating-induced seizure, Ma... ORPHA:544254
Retinitis Pigmentosa
Hyperinsulinemia, Conductive hearing impairment, Cataract, Sensorineural hearing impairment, Hypo... ORPHA:791
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Matthew-Wood Syndrome
Horseshoe kidney, Low-set ears, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abn... ORPHA:2470
Laurence-Moon Syndrome
Cryptorchidism, Sensorineural hearing impairment, Cataract, Hypoplasia of penis, Low-set, posteri... ORPHA:2377
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Amed Syndrome, Digenic
Hypoplasia of the uterus, Bone marrow hypocellularity, Adrenal hypoplasia OMIM:619151
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormality of female external genitalia, Male pseudohermap... ORPHA:90790
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Familial Hyperaldosteronism Type Iii
Tinnitus, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperpla... ORPHA:251274
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Lumbar Syndrome
Ectopic anus, Hypoplastic labia majora, Cryptorchidism, Micropenis, Bladder exstrophy, Hypospadia... ORPHA:83628
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Low-frequency sensorineural hearing impairment, Colitis, Splenomegaly, Lympha... OMIM:613101
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Testicular neoplasm, Aplasia/hy... ORPHA:754
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypothyroidism, Hypoplasia of penis ORPHA:2491
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Townes-Brocks Syndrome 2
Rectovaginal fistula, Cupped ear, Crossed fused renal ectopia, Microtia, Anal atresia, Bifid uter... OMIM:617466
Donnai-Barrow Syndrome
Low-set ears, Hypoplasia of the iris, Proteinuria, Sensorineural hearing impairment, Cataract, In... OMIM:222448
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Cryptorchidism, Abnormal morphology of female internal genital... ORPHA:2138
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Abnormal response to corticotropin releasing hormone stimulation test, Macr... ORPHA:189427
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Elevated c... OMIM:619203
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Macrotia OMIM:300558
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Cataract, Chronic kidney disease, Premature ovarian insufficiency... ORPHA:3156
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Cowden Syndrome 5
High palate, Hypothyroidism, Intention tremor, Hearing impairment, Cataract, Hyperthyroidism, Col... OMIM:615108
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, EEG abnormality, Sensorineural hearing impairment, Generalized... ORPHA:457351
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Opisthotonus, Atonic seizure, Generalized myoclonic seizure, EEG with s... ORPHA:95232
Immunodeficiency 76
Colitis, Splenomegaly, Lymphadenopathy OMIM:619164
Fryns Syndrome
High palate, Ectopic anus, Cryptorchidism, Hydronephrosis, Intestinal malrotation, Corneal opacit... ORPHA:2059
Cach Syndrome
Cognitive impairment, Hepatosplenomegaly, Renal hypoplasia, Cataract, Apathy, Irritability, Progr... ORPHA:135
Zellweger Syndrome
High palate, Primary adrenal insufficiency, Cognitive impairment, EEG abnormality, Cryptorchidism... ORPHA:912
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Uterus didelphys, Hydrocolpos, Abnormality of the uterine cervix ORPHA:3411
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Cowden Syndrome 6
High palate, Hypothyroidism, Varicocele, Intention tremor, Hearing impairment, Cataract, Hyperthy... OMIM:615109
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Dystonia, Hyperinsulinemia, Delayed puberty, Micropenis... ORPHA:3464
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Seizure, Atonic seizure OMIM:610293
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Micropenis, Duplicated colon, Bladder exstr... OMIM:258040
Stiff Person Spectrum Disorder
Hypothyroidism, Anxiety, Emotional lability, Diabetes mellitus, Exaggerated startle response, Ago... ORPHA:3198
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Optic atrophy, Posterior embryotoxon, Sensorineural hearing impairment, Cataract, Corn... ORPHA:1473
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Mediastinal lymphadenopathy, Incre... ORPHA:97289
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ileus, Hepatosplenomegaly, Heterochromia iridis, Cryptorchidism, Sensorineural hearing impairment... OMIM:609136
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Micropenis, E... ORPHA:90797
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Mast Cell Sarcoma
Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Fatiguable weakness of proximal limb muscles, Pancreatic endocrine tum... ORPHA:99889
Pfapa Syndrome
Malabsorption, Splenomegaly, Lymphadenopathy ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Stage 5 chronic kidney disease, Hepatosplenomegaly, Nephrotic syndrome, Splenomegaly, Generalized... OMIM:615559
Duplication Of Urethra
Chordee, Unilateral renal hypoplasia, Dysuria, Uterus didelphys, Anorectal anomaly, Coronal hypos... ORPHA:237
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Kennerknecht Syndrome
High palate, Agonadism, Hypoplasia of the uterus, Malrotation of colon OMIM:600908
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Low-set ears, Adrenal gland agenesis, Cleft palate, Sex reversal, Hypospadias OMIM:611812
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Developmental And Epileptic Encephalopathy 8
Seizure, Exaggerated startle response OMIM:300607
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:100024
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Hematuria, Abnormal morphology of female internal genitalia, Cataract, Tracheo... ORPHA:1839
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis, Cleft palat... ORPHA:96181
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... OMIM:606408
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Inflammation of the large intestine ORPHA:26790
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Rectovaginal fistula, Anal stenosis, Low-set ears, Pelvic kidney, Labial hypoplasia, Bicornuate u... OMIM:300707
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Splenomegaly, Thyroiditis, Celiac disease, Lymphadenopathy OMIM:619375
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Abnormal la... ORPHA:2198
Congenital Toxoplasmosis
Cognitive impairment, Lymphadenopathy, Hearing impairment ORPHA:858
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Ovarian neoplasm, Lymphadenopathy, Mediastinal lymphadenopathy, Neopl... ORPHA:83469
Hydrolethalus Syndrome 1
Low-set ears, Accessory spleen, Adrenal gland dysgenesis, Hydronephrosis, Abnormal vagina morphol... OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Hypospadias, Anal atresia, Clitoral hyper... OMIM:309801
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Oligospermia, Abnormal... ORPHA:786
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Dystonia, Micropenis, Sensorineural hear... OMIM:241080
Infantile Krabbe Disease
Opisthotonus, Generalized myoclonic seizure, Decreased nerve conduction velocity, Prolonged brain... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Asparagine Synthetase Deficiency
Exaggerated startle response, Seizure, Macrotia, Hypsarrhythmia OMIM:615574
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Protrud... ORPHA:247768
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cataract, Cystic renal dysplasia OMIM:613730
Primary Unilateral Adrenal Hyperplasia
Tinnitus, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin leve... ORPHA:231580
Congenital Tufting Enteropathy
Punctate keratitis, Cataract, Abnormal small intestinal mucosa morphology, Anal atresia, Irritabi... ORPHA:92050
Acquired Hypertrichosis Lanuginosa
Macroglossia, Lymphadenopathy, Glossitis, Ovarian neoplasm ORPHA:2221
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia OMIM:615363
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Sensorineural hearing impairment, Cataract, Dem... OMIM:310600
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Exaggerated startle response, Abnormal fear/anxiety-rela... ORPHA:309246
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Dystonia, Status epilepticus OMIM:618729
Cowden Syndrome 1
High palate, Hypothyroidism, Varicocele, Intention tremor, Hearing impairment, Cataract, Hyperthy... OMIM:158350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Morphological abnormality of the gastrointestinal tract, Eso... ORPHA:1018
Seckel Syndrome 7
Hypoplasia of the uterus, Microtia, Central hypothyroidism OMIM:614851
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Generalized dystonia, Sensorineural hearing impairment, Cataract, Mental deterioration... ORPHA:79107
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive hearing impairment, Cataract, Abnormality of the thyroid gland, Dementia, Diabetes me... OMIM:609286
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy, Dysphagia, Goiter ORPHA:97285
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly, Conjunctivitis OMIM:603552
Kohlschutter-Tonz Syndrome-Like
EEG abnormality, Nocturnal seizures, Tremor, Focal myoclonic seizure, Focal-onset seizure, Multif... OMIM:619229
Cockayne Syndrome Type 1
Hearing impairment, Ataxia, Macrotia, Gait disturbance, Absent brainstem auditory responses, Diff... ORPHA:90321
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Memory impairment, Cataract, Mental deterioration, Type II diabetes... ORPHA:79095
Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:98293
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Rhabdoid Tumor
Irritability, Neoplasm of the liver, Lymphadenopathy, Hematuria ORPHA:69077
Cockayne Syndrome A
Proteinuria, Cryptorchidism, Sensorineural hearing impairment, Cataract, Dementia, Splenomegaly, ... OMIM:216400
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Heterochromia iridis, Aplasia/Hypoplasia of the colon,... ORPHA:3440
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Conjunctivitis OMIM:240500
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Paraganglioma of head and neck, Primary hyperparathyroidism, Thy... ORPHA:653
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Atonic seizure, Generalized clonic seizure, Uni- and bilateral multifo... ORPHA:1934
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Mogs-Cdg
High palate, Hypothyroidism, Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Inap... ORPHA:79330
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Atypical absence seizure, EEG abnormality, Bilateral toni... ORPHA:98795
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Microphthalmia, Syndromic 9
Hypoplastic spleen, Horseshoe kidney, Low-set ears, Cryptorchidism, Hydronephrosis, Renal hypopla... OMIM:601186
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Optic atrophy OMIM:617183
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Hypoplasia o... ORPHA:3130
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulating corticostero... ORPHA:90796
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Hypoplasia of the vagina, Ovotestis, Micropenis, Azoospermia... OMIM:278850
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Satoyoshi Syndrome
Hypoplasia of the uterus, Malabsorption OMIM:600705
Tay-Sachs Disease
Apathy, Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Dystonia, Juvenile-Onset
Achalasia, Generalized dystonia, Sensorineural hearing impairment, Cataract, Cleft palate OMIM:607371
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Papillary cystadenoma of the epididymis, Horseshoe kidney, Renal Fanconi syndrome... ORPHA:93111
Classic Phenylketonuria
Memory impairment, Self-injurious behavior, Cataract, Motor deterioration, Mental deterioration, ... ORPHA:79254
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatosplenomegaly, Low-set ears, Cryptorchidism, Hydronephrosis, Micropenis, Pancre... ORPHA:1655
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy, Goiter, Nodu... ORPHA:142
Popliteal Pterygium Syndrome
Intercrural pterygium, Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Hypoplasia o... OMIM:119500
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Polycystic kidney dysplasia, Posteriorly rotated ears, Large fleshy ears, Bicornuat... OMIM:263210
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Gastrointestinal dysmotility, Aggressi... OMIM:270400
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy OMIM:609981
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Norrie Disease
EEG abnormality, Cryptorchidism, Diabetes mellitus, Protruding ear, Uterine rupture, Sclerocornea... ORPHA:649
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Gastroesophageal reflux, Athetosis, Limb dystonia, Emotional la... OMIM:608643
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Abnormal helix morphology, Low-set ears, Renal cortical microcyst... OMIM:614866
Pseudotrisomy 13 Syndrome
Low-set ears, Cryptorchidism, Micropenis, Renal hypoplasia, Adrenal hypoplasia, Anal atresia, Pos... OMIM:264480
Fryns Syndrome
Renal cyst, Abnormal helix morphology, Low-set ears, Ureteral duplication, Cryptorchidism, Hydron... OMIM:229850
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurrent t... OMIM:618935
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Enlarged polycystic ovaries, Increa... ORPHA:785
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Cerebrotendinous Xanthomatosis
Cholelithiasis, Suicidal ideation, Hypothyroidism, Cognitive impairment, Dystonia, Resting tremor... ORPHA:909
Cockayne Syndrome B
Developmental cataract, Hypoplasia of the iris, Cryptorchidism, Microcornea, Sensorineural hearin... OMIM:133540
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonic absence seizure, Typical absence seizure, F... ORPHA:64280
Cushing Disease
Suicidal ideation, Pituitary corticotropic cell adenoma, Optic nerve compression, Memory impairme... ORPHA:96253
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Lymphadenopathy, Type II diabetes mellitus, ... ORPHA:99812
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Low-set ears, Proteinuria OMIM:191830
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mosaic Trisomy 9
High palate, Horseshoe kidney, Low-set ears, Cryptorchidism, Hydronephrosis, Intestinal malrotati... ORPHA:99776
Microsporidiosis
Corneal ulceration, Abnormality of the endometrium, Lymphadenitis, Urethritis, Abnormality of the... ORPHA:2552
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Recurrent infection of the gastrointestinal tract OMIM:608184
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Lymphadenopathy, Mediastina... ORPHA:3392
Congenital Hypothyroidism
Hypothyroidism, Nephrolithiasis, Hearing impairment, Anxiety, Abnormality of the thyroid gland, T...