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Gene: Slc9a1 MGI:102462

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Gene Summary

Name:
solute carrier family 9 (sodium/hydrogen exchanger), member 1
Synonyms:
Nhe1,  Nhe-1,  antiporter,  Apnh

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
polycystic kidney Slc9a1em1(IMPC)Mbp HET Early adult 0.00
male infertility Slc9a1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Slc9a1 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 Slc9a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291

The table below shows human diseases predicted to be associated to Slc9a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Nondisjunction
Decreased fertility OMIM:158250
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis ORPHA:1182
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi... OMIM:614018
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:611726
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Ataxia, Parkinson... OMIM:162350
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Myoclonic-Atonic Epilepsy
Ataxia, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... OMIM:616421
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
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
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigmen... OMIM:610003
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Lower limb spasticity OMIM:619639
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Truncal ataxia, Limb ataxia, Choreoathetosis,... OMIM:616230
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic... OMIM:617665
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
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In... OMIM:302800
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis OMIM:619061
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... OMIM:617904
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal choreoathetosis, Foc... OMIM:602066
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Episodic hemiplegia, Episodic quadriplegia OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 46
Infantile spasms, Tonic seizure, Unsteady gait, Seizure, Focal impaired awareness seizure OMIM:617601
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... OMIM:617810
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset... ORPHA:330050
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, A... OMIM:617862
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Increased extraneuronal autofluorescent lipopigment, Increased ne... OMIM:204200
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Ce... ORPHA:263516
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, Optic atrophy, Seizure, Generalized myoclonic seizure OMIM:614706
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... OMIM:614436
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, Inability to walk, Myoclonic seizure, Seizure, Focal impaired awa... OMIM:617929
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... OMIM:208920
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure, Spasticity OMIM:620317
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Seizure, Ataxia, Generalized non-motor (absence) seizure ORPHA:98811
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Gait imb... ORPHA:101070
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Generalized myocl... OMIM:610951
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Seizure, Gait disturbance, Progressive choreoathetosis OMIM:118750
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Seizure, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:83472
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:271980
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Axonal degeneration, Poor coordination, Neurode... ORPHA:478029
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... ORPHA:140927
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls OMIM:203740
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... OMIM:618012
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Peripheral axonal neuropathy, Ataxi... OMIM:619389
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... OMIM:226750
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Optic atrophy, A... OMIM:614559
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Foc... OMIM:617166
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D... OMIM:614487
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... OMIM:618170
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset se... OMIM:618917
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp... OMIM:619301
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Bilateral tonic-clonic seizure, Ataxia, Oculomo... ORPHA:313772
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking OMIM:618242
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, C... OMIM:618730
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... OMIM:617493
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Lissencephaly 3
Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizure, Generalized tonic seizure OMIM:611603
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... OMIM:617976
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Seizure, Spasticity, Gl... OMIM:616811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Seizure, Axonal degeneration, Waddling gait OMIM:618138
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus ORPHA:86814
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Spastic tetraplegia, Neonatal ... OMIM:618237
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure OMIM:615705
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus OMIM:617507
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Seizure, Generalized myoclonic... OMIM:617188
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decr... OMIM:607250
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Sei... OMIM:617207
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Hemiplegia OMIM:614820
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Generalized non-motor (absence) ... ORPHA:485350
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Optic atr... OMIM:612319
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Cerebellar hypoplasia, ... ORPHA:488635
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... OMIM:619302
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysi... OMIM:617082
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Focal-onset seizure, Pyloric stenosis, Gas... ORPHA:98892
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus, Gl... OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Axonal... OMIM:604168
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Aminoacylase 1 Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cerebral cortical ... OMIM:609924
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Seizure, Limb ataxia, Gait ataxia ORPHA:404499
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Inability to walk, Generalized non-motor (absence) seizure, Focal impaired awar... ORPHA:411986
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired proprioception, Impaired vibration sens... ORPHA:88628
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Choreoathetosis, Seizure, Complex febrile seizure, Athetosis, Focal impaired... ORPHA:31709
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus OMIM:618760
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurrent cerebral hemorrhage, Hyp... ORPHA:36382
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Optic ... OMIM:618770
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... OMIM:618088
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Decerebrate rigidity, ... ORPHA:314911
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Hereditary Continuous Muscle Fiber Activity
Seizure, Slurred speech, Ataxia, Spastic gait ORPHA:972
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc... ORPHA:228346
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebra... OMIM:278800
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... OMIM:615859
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin, Hypohidrosis ORPHA:1658
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Seiz... ORPHA:464282
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-onset seizu... ORPHA:329308
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... OMIM:617933
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure, Focal ... ORPHA:1949
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy OMIM:162100
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... ORPHA:457205
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... OMIM:620028
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Diaphra... OMIM:604320
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Palmoplantar hyperkeratosis, Telangiectasia, Erythematous plaque, Thin skin... ORPHA:158673
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ... ORPHA:101112
Sarcosinemia
Bilateral tonic-clonic seizure, Tetraparesis, Ataxia ORPHA:3129
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Atrophy/Degenerati... OMIM:620200
Paroxysmal Kinesigenic Dyskinesia
Seizure, Athetosis, Focal sensory seizure ORPHA:98809
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Depression, Truncal obesity, Increased circulating cortisol level, Hype... OMIM:610475
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Pseudoprogeria Syndrome
Progressive spastic quadriplegia, Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Inability t... ORPHA:168491
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa... ORPHA:561854
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls, Clonus, Tongue fasciculations OMIM:618811
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... OMIM:300894
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Gait disturbance, Eating-induced seizure, Myoclonic absence se... ORPHA:544254
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Cerebellar... OMIM:272300
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Frequent falls, Axonal degeneration, Diaphragmatic paralysis OMIM:620011
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c... ORPHA:79264
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Atrophy/D... ORPHA:228360
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Acth-Independent Macronodular Adrenal Hyperplasia
Primary hypercortisolism, Depression, Truncal obesity, Increased circulating cortisol level, Hype... OMIM:219080
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Spastic hemiparesis, Foc... ORPHA:268947
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... OMIM:617290
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... OMIM:256600
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus OMIM:607876
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperthyroidism, Depression, Mitral valve prolapse, Seizure, Irritability, ... ORPHA:449291
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Porokeratosis Of Mibelli
Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Secondary amenorrhea, Depression, Truncal obesity, Increased circulatin... OMIM:610489
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:614483
X-Linked Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin ORPHA:75497
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Failure to thrive, Thin skin, Oligohydramnios ORPHA:261304
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Involuntary movements, Cerebral atrophy, Seizure, Spasticity ORPHA:209370
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p... ORPHA:199354
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Pri... ORPHA:79083
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... ORPHA:909
Acrogeria
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... OMIM:616672
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation, Atrophic scars, Thin skin OMIM:225320
Harel-Yoon Syndrome
Inability to walk, Ataxia, Generalized non-motor (absence) seizure OMIM:617183
Dermoodontodysplasia
Melanocytic nevus, Thin skin, Hypohidrosis ORPHA:1660
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei... OMIM:604317
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... ORPHA:268940
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Thin skin, Attention deficit hyperactivity disorder OMIM:617364
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Xan... ORPHA:2348
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae, Mitral valve prolapse OMIM:225310
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Pulmonary embolism ORPHA:743
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Thin skin, Mitral valve prolapse ORPHA:230839
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seizure OMIM:615716
Silver-Russell Syndrome 2
Thin skin, Hyperhidrosis OMIM:618905
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Seizure, Athetosis, Thin skin, Failure to thrive, Episodic vomiting OMIM:219150
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure, Aplasia cutis congenita ORPHA:79499
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia OMIM:619877
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Unsteady gait, Seizure, Status epileptic... ORPHA:79101
Periventricular Nodular Heterotopia 7
Seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms OMIM:617201
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism ORPHA:745
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Thin skin, Edema, Acantholysis ORPHA:455
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Upper ... ORPHA:457240
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Hypohidrosis ORPHA:1810
Dermoodontodysplasia
Thin skin OMIM:125640
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:618325
Xeroderma Pigmentosum
Macule, Conjunctival telangiectasia, Ataxia, Hypermelanotic macule, Telangiectasia of the skin, C... ORPHA:910
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Heart block, Periauricular skin pits, Atrophic scars, Skin pit, ... ORPHA:79100
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the skin, Ataxia, Telangiectasia of the skin, Tremor, Seizure, Gait disturb... ORPHA:100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Epileptic spasm, Bilateral t... OMIM:617193
Fetal Encasement Syndrome
Tetralogy of Fallot, Thin skin OMIM:613630
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S... OMIM:610539
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Atypical scarring of skin, Atrophic scars, Thin skin, Pulmonic stenosis, Testicul... ORPHA:75496
Flynn-Aird Syndrome
Ataxia, Hyperkeratosis, Seizure, Dementia, Dermal atrophy OMIM:136300
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Thin skin ORPHA:157965
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Waddling gait, Cigarette-paper scars, High palate, Thin skin, Webbed neck, Bifid uvula OMIM:612350
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic ner... ORPHA:171680
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... OMIM:615501
Pituitary Adenoma 4, Acth-Secreting
Edema, Obesity, Hypertension, Abdominal obesity, Thin skin, Oligomenorrhea, Emotional lability, S... OMIM:219090
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m... ORPHA:275864
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hypohidrosis, Hyperkeratosis, Thin skin, Cognitive impairment, Failure to thrive ORPHA:238468
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
2,4-Dienoyl-Coa Reductase Deficiency
Choreoathetosis, Seizure, Myoclonic absence seizure, Ataxia OMIM:616034
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Cloni... OMIM:619580
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Involuntary movements, Protruding tongue, Inability to walk, Chorea, Upper eyelid edema, ... OMIM:617804
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
New-Onset Refractory Status Epilepticus
Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ... ORPHA:363558
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Seizure, Intestinal bleeding, Ab... OMIM:612199
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Cerebellar gliosis, ... ORPHA:79243
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Congestive heart failure, Thin skin, Pulmon... OMIM:166210
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc... ORPHA:95232
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... ORPHA:139399
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia, Cardiomyopathy,... OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor seizure, Spasticity, Irritability, Vo... OMIM:618235
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... OMIM:610217
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Chronic constipation, High pal... OMIM:617602
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Statu... OMIM:300260
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sign, Opisthot... OMIM:271900
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Cachexia, Cryptorchidism, Thin skin, Aplasia cutis congenita, Failure ... ORPHA:217346
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... OMIM:617281
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at... OMIM:614575
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Decreased fertility... ORPHA:1643
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Ataxia, Incoordina... ORPHA:480864
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasti... ORPHA:544503
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Status epilep... OMIM:610042
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cerebral p... OMIM:620070
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Adiposis Dolorosa
Telangiectasia of the skin, Diarrhea, Subcutaneous nodule, Xerostomia, Obesity, Depression, Seizu... ORPHA:36397
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Diarrhea, Hematoc... ORPHA:263665
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Tetraplegia, Spasticit... ORPHA:496641
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Hydrocele testis... OMIM:607823
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Gastroeso... ORPHA:779
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Thin skin, ... ORPHA:742
Spinocerebellar Ataxia Type 10
Generalized-onset seizure, Unsteady gait, Focal motor seizure, Dysmetria, Gait ataxia, Progressiv... ORPHA:98761
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:615398
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Cryptorchidism, Cleft palate, Hypohidrosis, Gait disturbance, Thin skin, Hypothyr... ORPHA:1812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Dysmenorrhea, Abnormal atrioventricular conduction, Supraventricu... ORPHA:280365
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Primary adrenal insufficiency, Skin ulcer, Seizure, De... ORPHA:2047
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Generalized clonic seizure, Focal-onset seizure, Inability to walk, Generalized non-motor... OMIM:619229
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Hemipar... OMIM:540000
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Cushing Disease
Abnormal libido, Myocardial infarction, Increased body weight, Skin ulcer, Emotional lability, De... ORPHA:96253
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Failure to thrive, Tricuspid regurgitation, Ventricular septal defect, Polyhydr... OMIM:617506
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Myocarditis, Py... ORPHA:3342
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Lim... ORPHA:488613
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Focal Dermal Hypoplasia
Macule, Aplasia/Hypoplasia of the skin, Ventricular septal defect, Telangiectasia of the skin, Sk... ORPHA:2092
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, A... ORPHA:163681
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... OMIM:618143
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Generalized non-motor (a... OMIM:300912
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis ORPHA:3406
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Pain insensitivity, Telangiectasia of the skin, ... ORPHA:679
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen... OMIM:620224
Glass Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Cleft palate, Seizure, High palate, Thin skin, ... OMIM:612313
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Seizur... OMIM:220120
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans ORPHA:409
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Gastroesophageal refl... OMIM:615873
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, ... ORPHA:364028
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Xerostomia, Hypopigmented ... ORPHA:2907
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Seizure, Hyperkeratosis, Hypogonadism,... ORPHA:281090
Progressive Hemifacial Atrophy
Seizure, Aplasia/Hypoplasia of the skin ORPHA:1214
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Bilateral tonic-clonic seizure, Ataxia, Ca... OMIM:268800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita, Polyhydramnios, Congenital pyloric atresia OMIM:612138
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Unsteady gait, Bilateral tonic-clo... OMIM:617798
Premature Aging Syndrome, Penttinen Type
Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Thin skin, Derma... OMIM:601812
Angelman Syndrome
Broad-based gait, Ataxia, Infantile spasms, Inability to walk, Seizure, Status epilepticus, Myocl... ORPHA:72
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Failure to thrive, Milia OMIM:226700
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, Seizure, Neurodegeneration, Status epilepticus, Spasticity, Ne... OMIM:616239
Marshall-Smith Syndrome
Failure to thrive, Thin skin, Protruding tongue ORPHA:561
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Athetosis, Thin skin, Cryptorchidism OMIM:614438
Dpm1-Cdg
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Atonic seizure, Gen... ORPHA:79322
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cerebral atrophy, Seizure, Hypertonia... OMIM:618426
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, S... ORPHA:2028
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Hiatus hernia, Hypertension, High palate, Thin ski... OMIM:208050
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Difficulty walking, Spasticit... ORPHA:481152
Amish Lethal Microcephaly
Optic atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... ORPHA:369929
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Cryptorchidism, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis, Abnormality of e... ORPHA:2719
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Chorea, Athetosis, Cerebellar hypopl... OMIM:619435
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Facial palsy, Weakness... ORPHA:79139
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Dermal atrophy OMIM:617294
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, High palate, Constipation, Thin skin, Atrial s... OMIM:244450
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Ehlers-Danlos Syndrome, Periodontal Type, 1
Intestinal perforation, Atrophic scars, Thin skin, Hiatus hernia OMIM:130080
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
De Barsy Syndrome
Ventricular septal defect, Cryptorchidism, Athetosis, Progressive cerebellar ataxia, High palate,... ORPHA:2962
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmoti... ORPHA:2131
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Increase... ORPHA:99889
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic disc col... OMIM:600092
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Clonus, Diarrhea, Babinski sign, Dysmetria, G... OMIM:606721
Joubert Syndrome 20
Renal cyst OMIM:614970
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin, Esophagitis, Hiatus hernia ORPHA:1901
Stuve-Wiedemann Syndrome 1
Impaired pain sensation, Hyperhidrosis, Seizure, Smooth tongue, Thin skin, Dysphagia, Pulmonary a... OMIM:601559
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma... OMIM:618476
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis congenita, Milia ORPHA:79402
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:42
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Thin skin OMIM:201170
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... OMIM:615802
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Rapp-Hodgkin Syndrome
Velopharyngeal insufficiency, Cleft palate, Hypohidrosis, Palmoplantar keratoderma, Thin skin, Bi... OMIM:129400
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Inability to w... OMIM:617799
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Short Syndrome
Small for gestational age, Thin skin OMIM:269880
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, Spastic ... OMIM:614222
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin, Progressive neurologic deterioration, Depression OMIM:616592
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
Axial Osteomalacia
Renal cyst OMIM:109130
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ... OMIM:620024
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Aplasia/Hypoplasia of the skin, Abnormal pulmonar... ORPHA:974
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Dermal atr... ORPHA:525
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ataxia, Tremor, Babinski sign, Xerostomia, Spastic paraplegia, Dysmetria, Hyperker... OMIM:618527
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Optic nerve hypoplasia, Bilateral tonic-clonic seizure OMIM:618381
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis, Depression, Irritability, Hypertension, Palpitations ORPHA:279947
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... OMIM:620066
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Gastrointestinal inflammation, Atrophic scars, Palmoplantar keratoderma, Aplasia cu... ORPHA:79411
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Atypical Werner Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Premature ovarian insufficiency, Telangiectasi... ORPHA:79474
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Mitral valve prolapse, Seizure, Atrophic scars, High palate, Thin skin, Oligohydramnios ORPHA:536467
Tay-Sachs Disease
Inability to walk, Typical absence seizure, Dysmetria, Seizure, Focal impaired awareness seizure,... ORPHA:845
Adams-Oliver Syndrome 4
Atrial septal defect, Aplasia cutis congenita, Ventricular septal defect OMIM:615297
Mandibuloacral Dysplasia
Abnormal tongue morphology, High palate, Thin skin ORPHA:2457
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Atypical scarring ... ORPHA:1366
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Chiari type I malformation, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Spondylodysplastic Ehlers-Danlos Syndrome
Numerous nevi, Abnormal heart valve morphology, Lymphedema, Cryptorchidism, Cleft palate, Atrophi... ORPHA:536471
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ataxia, Edema, Macroglossia, Seizure, Hypertension, High palate, Thin skin, Failure to thrive, Bi... OMIM:266920
Burning Mouth Syndrome
Impaired temperature sensation, Dysesthesia, Strawberry tongue, Xerostomia, Depression, Smooth to... ORPHA:353253
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Molluscoid pseudotumors,... OMIM:225400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Anal fissure, Nevus, Skin erosion, Esophageal stricture, ... ORPHA:89842
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614866
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Abnormality of the menstrual cycle, Gastrointestinal dysmotility, Anorectal anomal... ORPHA:285
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Spastic p... ORPHA:79241
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... ORPHA:550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Tooth Agenesis, Selective, 4
Palmar hyperkeratosis, Palmoplantar hyperhidrosis, Thin skin, Hypohidrosis OMIM:150400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... OMIM:175500
Meier-Gorlin Syndrome 1
Small for gestational age, Cryptorchidism, Cleft palate, Gastroesophageal reflux, High palate, Th... OMIM:224690
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Inability to walk, Focal tonic seizure, Generalized non-motor (absence) seizure... ORPHA:404454
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, L... ORPHA:423479
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure, Inability to walk ORPHA:258
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Congenital Insensitivity To Pain With Severe Intellectual Disability
Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure ORPHA:453510
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:129900
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Asymmetric, linear skin defects, Pulmonary arterial hypertension, Atrial... OMIM:300887
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Al Amyloidosis
Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of the gastrointestinal... ORPHA:85443
Recon Progeroid Syndrome
Thin skin OMIM:620370
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Xeroderma Pigmentosum, Complementation Group A
Ataxia, Hypermelanotic macule, Distal sensory impairment, Choreoathetosis, Telangiectasia, Dermal... OMIM:278700
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Congenital malformation of the lef... ORPHA:3455
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Periorbital edema, Rectal pro... ORPHA:904
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturbance, Myoclonus, Oculomotor apraxia ORPHA:247262
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Cleft palate, Anteriorly placed anus, Chordee, Thin skin, Microglossia, Failure t... OMIM:151050
Lyme Disease
Skin nodule, Atrioventricular block, Joint swelling, Paresthesia, Dermal atrophy, Memory impairme... ORPHA:91546
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, High palate, Thin skin ORPHA:90153
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Agel Amyloidosis
Deficit in phonologic short-term memory, Tongue atrophy, Orthostatic hypotension due to autonomic... ORPHA:85448
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Malabsorption, Cardiomyopathy, Seizure, Gastric ulcer, Demen... ORPHA:3463
Werner Syndrome
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Myocardial infarction, Congestive hea... ORPHA:902
Choreoacanthocytosis
Chorea, Hypertonia, Loss of ambulation, Impaired vibratory sensation, Self-mutilation of tongue a... ORPHA:2388
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tremor, Hyperhidrosis, Bloo... ORPHA:90068
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Xerostomia, Ski... ORPHA:220393
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Hypohidrosis, Constipation, Thin skin, Hypoplastic-absent sebaceous glands OMIM:305100
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hair-pulling, Ir... ORPHA:447997
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Gait disturbance, Gait imbalance, Diffi... ORPHA:488627
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... ORPHA:255210
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, ... OMIM:252010
Adams-Oliver Syndrome 5
Right atrial enlargement, Esophageal varix, Seizure, Pulmonary arterial hypertension, Pulmonic st... OMIM:616028
Acute Radiation Syndrome
Diarrhea, Skin ulcer, Telangiectasia, Seizure, Hyperkeratosis, Vomiting, Dermal atrophy, Hypotension ORPHA:454831
Adult Syndrome
Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... ORPHA:731
Even-Plus Syndrome
High palate, Atrial septal defect, Aplasia cutis congenita, Patent foramen ovale, Anal atresia, O... OMIM:616854
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Desmosterolosis
Aplasia/Hypoplasia of the skin, Intestinal malrotation, Rigidity, Submucous cleft hard palate, Cl... ORPHA:35107
Foodborne Botulism
Cerebral palsy, Paralysis, Diarrhea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia... ORPHA:228371
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Diarrhea, Xerostomia, Weight loss OMIM:617321
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma ORPHA:384
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Corpus c... OMIM:261515
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Osteogenesis Imperfecta, Type I
Thin skin, Mitral valve prolapse OMIM:166200
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... OMIM:614947
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Oculocerebrocutaneous Syndrome
Seizure, Focal dermal aplasia/hypoplasia, Cleft palate, Cryptorchidism OMIM:164180
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atonic seizure, U... OMIM:614756
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity OMIM:608885
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Anal atr... ORPHA:1807
Iatrogenic Botulism
Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis, Xerostomia, Constipation, Dysph... ORPHA:254509
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Warburg-Cinotti Syndrome
Joint swelling, High palate, Thin skin, Follicular hyperkeratosis, Corneal neovascularization OMIM:618175
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Adult Syndrome
Dermal atrophy, Thin skin OMIM:103285
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... ORPHA:69735
Botulism
Cerebral palsy, Diarrhea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Confusion, Ataxia, Con... ORPHA:31826
Stiff Skin Syndrome
Subcutaneous nodule, Hypertension, Aplasia/Hypoplasia of the skin, Impaired pain sensation ORPHA:2833
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the skin, Nevus, Cryptorchidism, Cleft palate, Webbed neck, High palate, Ab... ORPHA:2990
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Tetraplegia, Seizure, Cerebellar hypoplasia, Generalized myocloni... OMIM:257300
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Secundum atrial septal defect, Cryptorchidism, Dysphagia, Hypertonia, ... OMIM:264090
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Restrictive Dermopathy 1
Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Thin skin, Atrial septal d... OMIM:275210
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Constipation, Palpitations OMIM:133020
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Cachexia, Weight loss ORPHA:1979
Oculocerebrocutaneous Syndrome
Skin tags, Aplasia/Hypoplasia of the skin, Hemiplegia/hemiparesis, Cryptorchidism, Hypopigmented ... ORPHA:1647
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Optic atrophy, Myoclonic s... OMIM:619512
Amyotrophic Lateral Sclerosis
Paralysis, Xerostomia, Depression, Emotional lability, Spasticity ORPHA:803
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Cryptorchidism, Xerostomia, Increased body weight, Primary amenor... ORPHA:398069
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... ORPHA:567
Prader-Willi Syndrome
Gastroparesis, Decreased response to growth hormone stimulation test, Edema, Impaired temperature... ORPHA:739
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Gait ... ORPHA:268261
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorchidism, Xerostomia, Obesit... ORPHA:398079
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... ORPHA:158684
Infant Botulism
Cerebral palsy, Cardiac arrest, Bowel incontinence, Xerostomia, Hypertension, Constipation, Hypot... ORPHA:178478
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Holoprosencephaly 14
Cerebellar atrophy, Partial absence of cerebellar vermis, Bilateral tonic-clonic seizure, Dandy-W... OMIM:619895
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Edema, Weight loss ORPHA:33577
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Broad-based gait, Bilateral tonic-c... ORPHA:2072
Adams-Oliver Syndrome 2
Oligohydramnios, Seizure, Aplasia cutis congenita, Limb hypertonia OMIM:614219
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure, Cerebral atrophy OMIM:617050
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:610505
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Blue nevus, Seizure, Cognitive impair... ORPHA:1556
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Loeys-Dietz Syndrome
Cardiac arrest, Atypical scarring of skin, High palate, Thin skin, Bifid uvula, Striae distensae ORPHA:60030
Dyskeratosis Congenita
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Telangiectasi... ORPHA:1775
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Asymmetric, linear skin defects, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:300952
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Cerebral ... ORPHA:457359
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Keutel Syndrome
Seizure, Ventricular septal defect, Dermal atrophy, Pulmonary arterial hypertension ORPHA:85202
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Vascular Ehlers-Danlos Syndrome
Macule, Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic attack, H... ORPHA:286
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Myocarditis, Xerostomia, Seizure, Joint swe... ORPHA:809
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Apraxia ORPHA:99885
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Femoral-Facial Syndrome
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology OMIM:134780
Prune Belly Syndrome
Cryptorchidism, Xerostomia, Anal atresia, Oligohydramnios OMIM:100100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia OMIM:210710
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclo... OMIM:620330
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Telangiectasia, Choreoathetosis, Dermal atrophy, Mental deterioration, Spasticity, Cornea... OMIM:278730
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... ORPHA:251393
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Oral-pharyngeal dysphagia, Tremor, High, narrow palate, Spastic diplegia, ... OMIM:300966
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Seizure, Cerebell... ORPHA:459070
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Poor coordination, Ascites, Hypertension, Dermal atrop... OMIM:610965
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Spasticity, Bilateral tonic-clonic seizure, Cerebral atrophy OMIM:301040
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Seizure, Typical absence seizure ORPHA:352665
Antisynthetase Syndrome
Aortic regurgitation, Telangiectasia of the skin, Edema, Myocarditis, Xerostomia, Dysphagia, Pulm... ORPHA:81
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Hoyeraal-Hreidarsson Syndrome
Ataxia, Hypertonia, Dermal atrophy, Failure to thrive, Oral leukoplakia ORPHA:3322
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Dermatomyositis
Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Edema, Myocardial infar... ORPHA:221
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Asymmetric, linear s... OMIM:309801
Inhalational Botulism
Diarrhea, Xerostomia, Paralysis, Constipation ORPHA:254504
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia ORPHA:79124
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Hair-pulling, High palate, Generalized tonic seizure OMIM:616393
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Vasculitis in the skin, Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Tricuspid regurgitation, Dilated cardiomyopathy, H... ORPHA:2556
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Small for gestational age, Telangiectasia... ORPHA:2909
Xeroderma Pigmentosum Variant
Dermal atrophy, Telangiectasia ORPHA:90342
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Intestinal malrotation ORPHA:1553
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Ramos-Arroyo Syndrome
Aganglionic megacolon, Shoulder dimple, Xerostomia, Chronic constipation, Severe failure to thriv... ORPHA:1051
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Ablepharon Macrostomia Syndrome
Thin skin ORPHA:920
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Premature ovarian insufficiency, Small for gestational age, Facial edema,... ORPHA:221008
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Edema, Telangiectasia, Hyperkeratosis, Palmoplantar keratoderma, Dermal a... OMIM:604173
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Monosomy 22Q13.3
Sacral dimple, Palpebral edema, Impaired pain sensation, Lymphedema, Hair-pulling, Obesity, Hypoh... ORPHA:48652
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Spotty hypopigmentation, Palmopla... OMIM:173650
Wolfram Syndrome 2
Gastric ulcer, Oligomenorrhea, Primary amenorrhea, Depression OMIM:604928
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Esophageal stricture, Atypical scarring of skin, Hyperkeratosis, ... ORPHA:2908
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Intestinal Botulism
Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Confusion, Cachexia, Dermal atrophy, Spasticity ORPHA:220295
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure, Seizure OMIM:280000
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Hallermann-Streiff Syndrome
Choreoathetosis, Optic disc coloboma, Bilateral tonic-clonic seizure OMIM:234100
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure, Resting tremor ORPHA:319213
Mody
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria ORPHA:552
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Cystic Echinococcosis
Ovarian cyst, Hepatic cysts, Renal cyst, Membranous nephropathy ORPHA:400
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Thin skin OMIM:200110
Kilquist Syndrome
Intestinal malrotation, Midgut malrotation, Xerostomia, Chronic constipation, Gastroesophageal re... OMIM:619080
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Telangiectasia of the skin, Dermal atrophy, Cryptorchidism OMIM:615381
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Joubert Syndrome 14
Renal cyst OMIM:614424
Gaucher Disease
Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Abnor... ORPHA:355
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure ORPHA:77293
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Eec Syndrome
Aplasia/Hypoplasia of the skin, Decreased response to growth hormone stimulation test, Xerostomia... ORPHA:1896
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Acantholysis, Aplasia cutis congenita OMIM:609638
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Cockayne Syndrome B
Anhidrosis, Ataxia, Small for gestational age, Tremor, Cryptorchidism, Atypical scarring of skin,... OMIM:133540
Primary Sjögren Syndrome
Somatic sensory dysfunction, Raynaud phenomenon, Chorea, Vasculitis, Xerostomia, Thyroiditis, Ski... ORPHA:289390
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Toriello-Lacassie-Droste Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Polyhydramnios ORPHA:3339
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Ventricular septal defect ORPHA:1782
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, High palate, Papule, Hypermelanotic macule, Rayna... ORPHA:740
Oculoectodermal Syndrome
Epidermal nevus, Transient ischemic attack, Aplasia cutis congenita, Lymphedema, Seizure, Atrial ... OMIM:600268
Doors Syndrome
Small cerebellar cortex, Bilateral tonic-clonic seizure, Optic atrophy, Focal impaired awareness ... ORPHA:79500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Atrophic scars, Palmoplantar keratoderma, Smooth tongu... ORPHA:79396
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Roberts-Sc Phocomelia Syndrome
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney OMIM:268300
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Sjogren Syndrome
Xerostomia OMIM:270150
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis, Impotence, Constipation, Orthostatic hypotension due to autonomic dysfu... ORPHA:43393
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Ataxia, Dermal atrophy OMIM:610651
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Small for gestational age, Facial edema, Cryptorchidism, Diarrhea, Functi... ORPHA:221016
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Chronic Graft Versus Host Disease
Esophageal stricture, Diarrhea, Xerostomia, Intermittent generalized erythematous papular rash, S... ORPHA:99921
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Dilated cardiomyopathy, Gastrointestinal inflammation, Depression, Atrophic scars, ... ORPHA:79408
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... ORPHA:227982
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Barber-Say Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:1231
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary movements, Inability... ORPHA:438213
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary adrenal i... ORPHA:227990
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita, Polyhydramnios, Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Coffin-Siris Syndrome 1
Sacral dimple, Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Cryptorchidism,... OMIM:135900
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... ORPHA:2538
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney OMIM:200995
Dyskeratosis Congenita, Autosomal Dominant 1
Budd-Chiari syndrome, Dermal atrophy, Ataxia, Oral leukoplakia OMIM:127550
Trichotillomania
Hair-pulling OMIM:613229
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Cryptorchidism, Telangiectasia, Anteriorly placed anus, High palate, D... OMIM:268400
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis OMIM:617671
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Restrictive Dermopathy
Dextrocardia, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Transpositio... ORPHA:1662
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, At... ORPHA:2152
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Scalp-Ear-Nipple Syndrome
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypohidrosis, Hypertension, Supraventr... OMIM:181270
Hallermann-Streiff Syndrome
High, narrow palate, Cryptorchidism, Congestive heart failure, Glossoptosis, Dermal atrophy, Hypo... ORPHA:2108
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Focal-onset seizure, Inability to walk, Seizure, Atypical absence seizure ORPHA:261537
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Ataxia, Cryptorchidism, Esophageal stricture, Hyperhidrosis, Dermal at... OMIM:305000
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the skin, High, narrow palate, Cryptorchidism, Submucous cleft hard palate,... ORPHA:2658
Xeroderma Pigmentosum, Variant Type
Cutaneous telangiectasia, Dermal atrophy OMIM:278750
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy, Telangiectasia OMIM:278740
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal-onset seizure, Inability to walk, Seizure, Atypical absence seizure ORPHA:261552
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Blau Syndrome
Pericarditis, Xerostomia, Skin ulcer, Large vessel vasculitis, Joint swelling, Hypertension, Pulm... ORPHA:90340
Igg4-Related Submandibular Gland Disease
Facial edema, Periorbital edema, Prostatitis, Xerostomia, Enlargement of parotid gland, Abnormal ... ORPHA:449432
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... ORPHA:892
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Intestinal perforation, Acantholysis, Diarrhea, Xerostomia, Skin ulcer... ORPHA:95455
Branchiooculofacial Syndrome
Preauricular pit, Malrotation of colon, Pyloric stenosis, Lower lip pit, Cryptorchidism, Cleft pa... OMIM:113620
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy, Telangiectasia OMIM:278720
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland... ORPHA:79078
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Proteus Syndrome
Enlarged polycystic ovaries, Long penis, Renal cyst ORPHA:744
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Alström Syndrome
Typical absence seizure, Ataxia ORPHA:64
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Pmm2-Cdg
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc9a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc9a1.

No publications found that use IMPC mice or data for Slc9a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc9a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc9a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc9a1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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