banner
Genes Phenotypes Help, News, Blog

Gene: Slc9a1 MGI:102462

Log in to follow

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 Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images

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
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... 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
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
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
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
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
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
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
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Nondisjunction
Decreased fertility OMIM:158250
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Seizure, Ataxia, Spastic ataxia ORPHA:1182
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Bilate... OMIM:614018
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Optic atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Tru... OMIM:611726
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Abnormal c... OMIM:162350
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Ata... OMIM:616421
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Bilateral toni... OMIM:618141
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:615744
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Truncal ataxia, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:618587
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Limb ataxia, Lower limb spasticity, Cerebellar vermis atrophy, Spas... OMIM:614322
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluo... OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Seizure, Tonic seizure, Atypical absence seizure OMIM:617771
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i... OMIM:615362
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Lower limb spasticity OMIM:619639
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
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
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Broad-based gait, Focal motor seizure, Seizure, Myocloni... OMIM:617665
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro... OMIM:616230
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Peripheral axonal degeneration, Difficulty walking, Distal sensory i... OMIM:302800
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Spastic tetraparesis, Ataxia OMIM:619061
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Focal sensory seizure, Infantile spasms, Generalized-onset seizure, Paroxysm... OMIM:602066
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, Seizure, Infantile sp... OMIM:620540
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Unsteady gait, Bilateral tonic-clonic seizure OMIM:608636
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Focal... OMIM:617904
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure OMIM:104290
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Infantile spasms, Tonic seizure, Unsteady gait, Focal impaired awareness seizure OMIM:617601
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, T... OMIM:617810
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Seizure, Cerebellar at... OMIM:300423
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxia, Myoclonic se... OMIM:620145
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebella... OMIM:618090
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo... OMIM:616540
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability ... ORPHA:330050
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidi... OMIM:616981
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto... ORPHA:599373
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Bilateral ton... OMIM:617862
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Focal-onset seizure, Cerebellar atrophy, Refractory status epilepticus, Bilater... OMIM:619605
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat... OMIM:301020
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Optic atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosen... ORPHA:263516
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Generalized myoclonic seizure, Seizure, Cerebellar atrophy, Ataxia OMIM:614706
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Fasciculations, Impa... OMIM:614436
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Inability to walk, Seizure, Tonic seizure, Myoclonic seizure, Focal impaired awa... OMIM:617929
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Chorea, Truncal ... OMIM:208920
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor... ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p... ORPHA:100988
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Optic atrophy, Abnormality of extrapyramidal motor function, Seizure, Bilateral... OMIM:204200
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Spasticity, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia OMIM:620317
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Atax... OMIM:614561
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure, Choreoathetosis, Ataxia ORPHA:98811
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Seizure, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Lo... OMIM:600143
Nescav Syndrome
Cerebral atrophy, Optic atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cereb... OMIM:614255
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Ataxia, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:617836
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Seizure, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Gi... OMIM:618876
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se... ORPHA:101070
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Seizure, Gait disturbance, Rigidity, Abnormal pyramidal sign OMIM:118750
Camos Syndrome
Optic atrophy, Brain atrophy, Spasticity, Seizure, Progressive extrapyramidal movement disorder, ... ORPHA:83472
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d... OMIM:602433
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Ataxia, Neuro... OMIM:610951
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
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, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Dystonia 22, Juvenile-Onset
Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atrophy, Bilateral tonic-cloni... OMIM:620453
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s... OMIM:214400
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... ORPHA:140927
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Status e... OMIM:619701
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria OMIM:203740
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Optic atrophy, Focal-onset seizure, Inability to walk, Infantile spasms, Spasti... OMIM:618012
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Seizure, Peripheral axonal n... OMIM:619389
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Per... OMIM:615957
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M... OMIM:616139
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Fasciculations, Tetraplegia, Gait disturbance, De... OMIM:604484
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Focal-onset seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, Myocl... OMIM:226750
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Focal-onset seizure, Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure... OMIM:614559
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Cerebellar atrophy, Gait disturbance, Bilate... OMIM:617166
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Se... ORPHA:529665
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, A... OMIM:618093
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Focal-onset seizure, Inability to walk, Chorea, Spasticity, Cerebellar atrophy,... OMIM:618917
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr... OMIM:614487
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ... ORPHA:98856
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Babinski sign, Generalized non-motor (absence) seizure, Cerebellar vermis atrop... OMIM:618170
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Difficulty walking, Ataxia OMIM:618242
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Seizure, Cer... OMIM:618730
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropat... ORPHA:313772
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Dravet Syndrome
Epilepsia partialis continua, Generalized clonic seizure, Focal-onset seizure, Generalized myoclo... ORPHA:33069
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Seizure, Cerebellar atrophy... OMIM:616811
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Generalized tonic seizure OMIM:611603
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Hyperkinetic movements, Atrophy/Degeneration affecting the brainstem, Chorea, S... OMIM:617493
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Neonatal death, Spastic tetrap... OMIM:618237
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:618497
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of ... OMIM:619301
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 15
Seizure, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:615705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Decreased nerve conduction velocity, Waddling gait, Axonal degeneration OMIM:618138
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Focal-onset seizure, Inability to walk, Seizure, Generalized-onset... OMIM:617188
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Perip... OMIM:607250
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Seizure, Infantile spasms... ORPHA:485350
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Spasticity, Seizure, Cerebellar atrophy, Ataxia, Spa... OMIM:617207
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Alternating Hemiplegia Of Childhood 2
Tetraplegia, Seizure, Ataxia, Episodic quadriplegia, Hemiplegia, Status epilepticus, Choreoathetosis OMIM:614820
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Focal emotional seizure with laughing, Bilateral tonic-clonic... ORPHA:293181
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Experiential epileptic aura, Seizure, Focal impaired awareness autonomic sei... ORPHA:31709
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff... OMIM:612319
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Status epilep... OMIM:617082
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Cerebel... ORPHA:488635
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Periventricular Nodular Heterotopia
Focal-onset seizure, Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morpholo... ORPHA:98892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... ORPHA:363710
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Global brain atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticu... OMIM:609056
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Thin s... ORPHA:36382
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Seizure, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Increase... OMIM:256731
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619302
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia,... OMIM:604168
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Limb ataxia, Seizure, Gait ataxia ORPHA:404499
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology by anatomical s... ORPHA:88628
Aminoacylase 1 Deficiency
Cerebral atrophy, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral cortical ... OMIM:609924
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Distal sensory impairment, Gait disturbance, Axonal degeneration OMIM:616155
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Atonic seizure, Myo... ORPHA:411986
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor... OMIM:615490
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Chorea, Focal-onset seizure, Inability to walk OMIM:618760
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, Dysmetria OMIM:615031
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Babinski sign, Optic atrophy, Focal-onset seizure, Bilateral tonic-clonic seizu... OMIM:618770
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:618088
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
Pyridoxine-Dependent Epilepsy
Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Seizure, Focal aware motor seizure... ORPHA:3006
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Seizure, Ataxia, Slurred speech ORPHA:972
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Status epilep... ORPHA:1949
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Optic atrophy, Global brain atrophy, Hypertonia, Babinski sign, Scissor gait, A... OMIM:278800
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Developmental And Epileptic Encephalopathy 41
Babinski sign, Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Spasticity, Foca... OMIM:617105
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Atonic s... OMIM:615859
Absence Of Fingerprints-Congenital Milia Syndrome
Hypohidrosis, Thin skin, Milia ORPHA:1658
Severe Canavan Disease
Babinski sign, Inability to walk, Decerebrate rigidity, Seizure, Spasticity, Bilateral tonic-clon... ORPHA:314911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Lower limb spasticity... ORPHA:464282
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Simp... ORPHA:1942
Developmental And Epileptic Encephalopathy 61
Seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Loss of ambulation, Focal c... OMIM:617933
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Progressive spastic paraparesis, Focal-onset seizure, Falls, Cerebellar vermis atr... ORPHA:329308
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebell... 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, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Focal impaired awareness seizure OMIM:616521
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Thin skin, Palmoplantar hyperkeratosis, Erythematous plaque, Esophageal stricture, Dermal ... ORPHA:158673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic paralysis, Degeneration o... OMIM:604320
Developmental And Epileptic Encephalopathy 106
Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... OMIM:620028
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Inability to walk, Sensory ... ORPHA:457205
Sarcosinemia
Tetraparesis, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Focal-onset seizure, Spasticity, I... ORPHA:561854
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Tonic seizure, Myoclonic seizure,... OMIM:618559
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Striae distensae, Depression, Emotional lability, Hypertension, Thin skin, Truncal ... OMIM:610475
Pseudoprogeria Syndrome
Thin skin, Failure to thrive, Decreased body weight, Progressive spastic quadriplegia ORPHA:2985
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Status epilepticus, Bila... OMIM:620200
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Paroxysmal Kinesigenic Dyskinesia
Seizure, Athetosis, Focal sensory seizure ORPHA:98809
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Falls, Clonus, Axonal degeneration OMIM:618811
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Myocloni... OMIM:620166
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Inability to walk, C... ORPHA:168491
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Cerebellar atrophy, Episodic ataxia, Bilateral tonic-clonic... OMIM:602481
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Bradykinesia, Akinesia, Seizure, Tremor, Cerebellar atrophy, Abnormal autonomic... OMIM:300894
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Neuronal loss in central nervous system, Po... OMIM:607136
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Gait disturbance, Eating-induced seizure, A... ORPHA:544254
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:613970
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Seizure,... ORPHA:98795
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Diaphragmatic paralysis, Frequent falls, Axonal degeneration OMIM:620011
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae, Depression, Emotional lability, Hypertension, Thin skin, Truncal obesity, Prima... OMIM:219080
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms, Ataxia ORPHA:467166
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Poor fine motor coordination, Seizure, Cerebellar atrophy, Poor motor coordinat... ORPHA:79264
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Hypertonia, Bilateral tonic-clonic seizure, Ataxia, Cerebellar hypoplasia, Hemi... OMIM:272300
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Unilateral Focal Polymicrogyria
Simple febrile seizure, Spastic hemiparesis, Poor fine motor coordination, Focal motor seizure, S... ORPHA:268947
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus, Ataxia OMIM:618729
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Brain atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myoc... OMIM:617290
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Porokeratosis Of Mibelli
Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Gastroesophageal reflux, Depression, Seizure, Hypertension, Short attention span, H... ORPHA:449291
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Depression, Emotional lability, Secondary amenorrhea, Hypertension, Thin skin, ... OMIM:610489
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the... ORPHA:289266
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
X-Linked Ehlers-Danlos Syndrome
Thin skin, Gastroesophageal reflux ORPHA:75497
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Brain Small Vessel Disease 2
Spastic tetraplegia, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Skin dimple, Oligohydramnios, Failure to thrive ORPHA:261304
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Hemiparesis, Rigidity, Spastic atax... ORPHA:199354
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... ORPHA:909
Severe Neonatal-Onset Encephalopathy With Microcephaly
Cerebral atrophy, Spasticity, Seizure, Bilateral tonic-clonic seizure, Involuntary movements ORPHA:209370
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration OMIM:615889
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Pancreatitis, Secondary amenorrhea, Hypertension, Aplasia/Hypoplasia of... ORPHA:79083
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Acrogeria
Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin ORPHA:2500
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Babinski sign, Impaired proprioception, Hoffmann sign, Impaired ... OMIM:615491
Combined Oxidative Phosphorylation Deficiency 27
Cerebral atrophy, Global brain atrophy, Chorea, Cerebellar atrophy, Bilateral tonic-clonic seizur... OMIM:616672
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Atrophic scars, Thin skin, Mitral valve prolapse, Mitral regurgitation OMIM:225320
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Striae distensae, Mitral valve prolapse, Thin skin OMIM:225310
Dermoodontodysplasia
Hypohidrosis, Thin skin, Melanocytic nevus ORPHA:1660
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Ataxia, Inability to walk OMIM:617183
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Seizure, Generalized-onset seizure, Spastic tetraparesis, Bilateral tonic-clonic seiz... OMIM:604317
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Abnormal glossopharyngeal nerve morphology, S... ORPHA:268940
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral tonic-clonic se... ORPHA:254881
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia ORPHA:230839
Congenital Heart Defects And Ectodermal Dysplasia
Attention deficit hyperactivity disorder, Thin skin, Atrioventricular canal defect OMIM:617364
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Pancreatitis, Secondary amenorrhea, Aplasia/Hypoplasia of the skin, Hyp... ORPHA:2348
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin, Pulmonary embolism ORPHA:743
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:300607
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Silver-Russell Syndrome 2
Thin skin, Hyperhidrosis OMIM:618905
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure OMIM:615716
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Seizure, Aplasia cutis congenita ORPHA:79499
Hyperprolinemia Type 2
Seizure, Generalized-onset seizure, Early onset absence seizures, Atonic seizure, Febrile seizure... ORPHA:79101
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Superficial Epidermolytic Ichthyosis
Edema, Thin skin, Acantholysis, Palmoplantar keratoderma ORPHA:455
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Seizure, Ataxia, Infantile spasms OMIM:617201
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Pulmonary embolism, Aplasia/Hypoplasia of the skin ORPHA:745
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Hypertonia, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Thin skin ORPHA:1810
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Hypertension, Oligomenorrhea, Thin skin, Obes... OMIM:219090
Dermoodontodysplasia
Thin skin OMIM:125640
Atrophoderma Vermiculata
Periauricular skin pits, Heart block, Atrophic scars, Hypoplastic pilosebaceous units, Skin pit, ... ORPHA:79100
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Cerebe... ORPHA:457240
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Cutis Laxa, Autosomal Recessive, Type Iiia
Episodic vomiting, Seizure, Athetosis, Thin skin, Failure to thrive OMIM:219150
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Seizure, Spasticity, Infantile spasms, Cerebellar hemisphere hypopl... OMIM:618325
Fetal Encasement Syndrome
Thin skin, Tetralogy of Fallot OMIM:613630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Epileptic spasm, Inability to walk, Lower limb spasticity, Atrophy/Degeneration af... OMIM:617193
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Failure to thrive ORPHA:157965
Flynn-Aird Syndrome
Hyperkeratosis, Seizure, Ataxia, Dementia, Dermal atrophy OMIM:136300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Waddling gait, High palate, Cigarette-paper scars, Thin skin, Bifid uvula OMIM:612350
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Abnormality of extrapyramidal motor function, ... ORPHA:910
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Focal-onset seizure, Cerebellar vermis hypoplasia, Optic nerve hypoplasia,... ORPHA:171680
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Cognitive impairment, Hypohidrosis, Thin skin, Failure to thrive, Xerostomia ORPHA:238468
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Neuronal loss in central nervous system, Generali... ORPHA:98759
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Seizure, Intention tremor, Bilateral tonic-clonic seizure with foc... OMIM:610539
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Broad-based gait, Appendicular spasticity, Cerebellar vermis at... OMIM:617988
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Abnormality of extrapyramidal motor function, Upper motor neuron dysfunction, Bil... ORPHA:275864
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Generalized-onset seizure, Bilateral ... OMIM:615501
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Limb hypertonia, Cerebellar atrophy, Bilateral tonic-clonic s... OMIM:619580
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Ataxia-Telangiectasia
Seizure, Tremor, Spasticity, Multiple cafe-au-lait spots, Gait disturbance, Cognitive impairment,... ORPHA:100
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Cachexia... ORPHA:1876
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Chorea, Seizure, High palate, Protruding tongue, Involuntary movements, Cafe-a... OMIM:617804
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Choreoathetosis, Ataxia, Myoclonic absence seizure OMIM:616034
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Seizure, Atrophic... ORPHA:230851
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Cerebellar cyst, Inability to walk, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:79243
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:614207
New-Onset Refractory Status Epilepticus
Global brain atrophy, Seizure precipitated by febrile infection, Focal aware motor seizure, Refra... ORPHA:363558
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Pulmonic stenosis, Thin skin, Aortic valve stenosis, Atypical scarring of skin ORPHA:75496
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Abnormality of extrapyramidal motor function, Seizure, Gastrointestinal t... OMIM:612199
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Thin skin, Nonimmune hydrops fetalis, Small fo... OMIM:166210
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... ORPHA:101
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Atypical absence s... ORPHA:95232
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Chronic diarrhea, Seizure, Cardiomyopathy, Inflammation of the large in... OMIM:615895
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Adrenomyeloneuropathy
Spastic gait, Babinski sign, Distal sensory impairment, Axonal degeneration, Abnormality of perip... ORPHA:139399
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
Xp22.3 Microdeletion Syndrome
Sacral dimple, Secondary amenorrhea, Ectopic anus, Aplasia/Hypoplasia of the skin, Decreased fert... ORPHA:1643
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Atrophic scars, Hyperkeratosis, Papule, Subcutaneous nodule, Skin plaque, Dermal atrophy ORPHA:89843
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Facial-lingual fasciculations, Cerebellar vermis hypoplasia, Dandy-Walker malforma... OMIM:617281
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Optic atrophy, Babinski sign, Hypertonia, Bradykinesia, Chorea, Spasticity, Dys... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Tonic seizure, Ataxia, Statu... OMIM:300260
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cerebral atrophy, Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Babinski sign, Global brain atrophy, Hypertonia, Generalized myoclonic seizure, Hy... ORPHA:480864
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Athetosi... ORPHA:79351
Canavan Disease
Optic atrophy, Epileptic spasm, Brain atrophy, Bilateral tonic-clonic seizure, Opisthotonus, Abno... OMIM:271900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypertonia, Seizure, Infantile spasms, Cerebellar atrophy, Spasticity, Bilateral tonic-clonic sei... ORPHA:544503
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, C... OMIM:614298
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Seizur... ORPHA:457351
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Adiposis Dolorosa
Memory impairment, Diarrhea, Depression, Seizure, Hypothyroidism, Constipation, Obesity, Telangie... ORPHA:36397
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Intestinal malrotation, Thin skin, Failure to thrive, Chronic constipa... OMIM:617602
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Limb hypertonia, Appendicular spasticity, Cerebellar vermis hypoplasia, Brain atrophy, Cerebral p... OMIM:620070
Pitt-Hopkins-Like Syndrome 1
Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with f... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati... ORPHA:263665
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Cerebel... OMIM:620451
Reynolds Syndrome
Skin ulcer, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morphology, Dysphagia, Tela... ORPHA:779
19Q13.11 Microdeletion Syndrome
Cachexia, Thin skin, Failure to thrive, Ventricular septal defect, Aplasia cutis congenita ORPHA:217346
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cerebellar atrophy, Cataplexy... ORPHA:496641
Prolidase Deficiency
Skin ulcer, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Papule, Thin skin, Palmoplantar kerat... ORPHA:742
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Spinocerebellar Ataxia Type 10
Progressive cerebellar ataxia, Gait imbalance, Focal motor seizure, Generalized-onset seizure, Dy... ORPHA:98761
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Limb hypertonia, Seizure, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:488613
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Pancreatitis, Secondary amenorrhe... ORPHA:280365
Cushing Disease
Myocardial infarction, Skin ulcer, Memory impairment, Depression, Emotional lability, Secondary a... ORPHA:96253
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Generalized toni... OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:615398
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Myocardial infarction, Gastroesophageal reflux, Hypertensi... ORPHA:3342
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Optic atrophy, Hypertonia, Bilateral tonic-clonic seizure with generalized onse... OMIM:615851
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Flynn-Aird Syndrome
Skin ulcer, Impaired pain sensation, Cachexia, Seizure, Primary adrenal insufficiency, Ataxia, De... ORPHA:2047
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Focal Dermal Hypoplasia
Gastroesophageal reflux, Duodenal atresia, Aplasia/Hypoplasia of the skin, Cognitive impairment, ... ORPHA:2092
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Ulerythema Ophryogenesis
Erythematous papule, Hyperkeratotic papule, Dermal atrophy, Follicular hyperkeratosis ORPHA:3406
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Webbed neck, Patent foramen ovale, Right bundle branch block, High palate, Hypert... OMIM:617506
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Focal-onset seizure, Inability to walk, Cerebellar vermis atrophy, Seizure, Cer... OMIM:618143
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... ORPHA:435638
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Lower limb spasticity, Cerebellar vermis atrophy, Seizure, Cerebral palsy, B... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater... OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Seizure, Inf... OMIM:620224
Glass Syndrome
Broad-based gait, Seizure, High palate, Bilateral tonic-clonic seizure, Thin skin, Febrile seizur... OMIM:612313
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Predominantly lower limb lymphedema, Thin skin, Nonimmune hydrops fetalis, Palma... OMIM:607823
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... ORPHA:314588
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Gait disturbance, Hypohidrosis, Hypothyroidism, Thin skin, Cleft palate ORPHA:1812
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
D-Glyceric Aciduria
Focal clonic seizure, Appendicular spasticity, Optic nerve hypoplasia, Spasticity, Seizure, Bilat... OMIM:220120
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Ischemic stroke, Myocardial infarction... ORPHA:679
Dk1-Cdg
Seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:91131
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Abnormality of the gastrointestinal tract, Skin ulcer, Palmoplantar h... ORPHA:2907
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Spasticity, Seizure, Ataxia, Spasti... OMIM:616640
Progressive Hemifacial Atrophy
Seizure, Aplasia/Hypoplasia of the skin ORPHA:1214
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Aplasia cutis congenita, Congenital pyloric atresia OMIM:612138
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Aplasia/Hypoplasia of the skin, Papule ORPHA:409
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Hyperkeratosis, Skin nodule, Thin skin, Failure to thrive, Palmoplantar hy... OMIM:601812
Hyperekplexia 3
Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus OMIM:614618
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Cerebellar vermis hypoplasia, Seizure, Spasticity, Bilateral tonic-clonic seizure,... ORPHA:364028
Helsmoortel-Van Der Aa Syndrome
Chronic diarrhea, Abnormal heart morphology, Dysphagia, Mitral valve prolapse, Heart murmur, Irri... OMIM:615873
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619983
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Orthostatic hypotension, F... OMIM:268800
Amish Lethal Microcephaly
Optic atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Sandhoff Disease, Infantile Form
Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz... ORPHA:309155
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal myoclonic seizure, Seizure, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Spas... ORPHA:369929
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Atrophic scars, Congenital localized absence of skin, Pyloric stenosis, Failure to thrive OMIM:226700
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Neuronal loss in central nervous system, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:616239
Marshall-Smith Syndrome
Thin skin, Failure to thrive, Protruding tongue ORPHA:561
Angelman Syndrome
Generalized myoclonic seizure, Inability to walk, Broad-based gait, Seizure, Infantile spasms, At... ORPHA:72
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Ventricular hypertrophy, High palate, Hypertension, Aortic... OMIM:208050
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Skin ulcer, Aplasia/Hypoplasia of the skin, Papule, Su... ORPHA:2028
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:620655
Dpm1-Cdg
Generalized myoclonic seizure, Seizure, Early onset absence seizures, Atonic seizure, Ataxia, Gen... ORPHA:79322
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Difficulty walking, Focal myoclonic seizure, Inability to walk, Limb hypertonia, Spasticity, Seiz... ORPHA:481152
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Babinski sign, Hypertonia, Generalized non-motor (absence) seizure, Cerebellar ... OMIM:615802
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Global brain atrophy, Hypertonia, Spasticity, Seizure, Cerebellar atrophy, Bila... OMIM:618426
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Syndromic Recessive X-Linked Ichthyosis
Seizure, Hyperkeratosis, Attention deficit hyperactivity disorder, Hypohidrosis, Hypogonadism, Ab... ORPHA:281090
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Kaufman Oculocerebrofacial Syndrome
High palate, Preauricular skin tag, Intestinal malrotation, Constipation, Thin skin, Failure to t... OMIM:244450
Ehlers-Danlos Syndrome, Periodontal Type, 1
Thin skin, Atrophic scars, Intestinal perforation, Hiatus hernia OMIM:130080
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy, Diffuse palmoplantar hyperkeratosis OMIM:617294
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Chorea, Dandy-Walker malformation, Athetosis, Bilateral tonic-clonic seizure... OMIM:619435
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Hypoesthesia, Axonal degeneration OMIM:106100
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Ureteral atresia, Renal dysplasia... OMIM:208540
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Lipodystrophy, Familial Partial, Type 7
Babinski sign, Distal sensory impairment, Orthostatic hypotension, Diarrhea, Dysdiadochokinesis, ... OMIM:606721
Alternating Hemiplegia Of Childhood
Oculomotor apraxia, Chorea, Focal motor seizure, Cardiomyopathy, Rigidity, Hyperhidrosis, Ataxia,... ORPHA:2131
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Hypertension, Increased body weight, Striae distensae, Malignant gastroi... ORPHA:99889
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure OMIM:612337
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Thin skin, Esophagitis, Hiatus hernia ORPHA:1901
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Thin skin, Athetosis OMIM:614438
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic... OMIM:615474
Stuve-Wiedemann Syndrome 1
Milia, Smooth tongue, Impaired pain sensation, Seizure, Pulmonary arterial hypertension, Thin ski... OMIM:601559
Joubert Syndrome 20
Renal cyst OMIM:614970
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin, High palate OMIM:201170
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bilateral tonic-clonic sei... ORPHA:42
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis congenita ORPHA:79402
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Thin skin, Ataxia, Abnormal ... ORPHA:2719
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Focal-onset seizure, Bilateral tonic-clonic seizure, Optic disc col... OMIM:600092
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
De Barsy Syndrome
Progressive cerebellar ataxia, Athetosis, High palate, Thin skin, Failure to thrive, Ventricular ... ORPHA:2962
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Focal-onset seizure, Chiari type I malformation, Dandy-Walker ... OMIM:618476
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Rapp-Hodgkin Syndrome
Hypohidrosis, Thin skin, Velopharyngeal insufficiency, Bifid uvula, Cleft palate, Palmoplantar ke... OMIM:129400
Self-Improving Dystrophic Epidermolysis Bullosa
Atrophic scars, Skin erosion, Aplasia cutis congenita, Milia ORPHA:79411
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Early-Onset Lafora Body Disease
Seizure, Spastic tetraparesis, Ataxia, Myoclonus ORPHA:324290
Kosaki Overgrowth Syndrome
Depression, Xanthelasma, Progressive neurologic deterioration, Thin skin OMIM:616592
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Seizur... OMIM:617799
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Short Syndrome
Thin skin, Small for gestational age OMIM:269880
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:96147
Warburg Micro Syndrome 3
Optic atrophy, Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Cerebral... OMIM:614222
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Axial Osteomalacia
Renal cyst OMIM:109130
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure ORPHA:98784
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Papule, De... ORPHA:525
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Hypertonia, Seizure, Esophageal varix, Aplasia/Hypoplasia of the ski... ORPHA:974
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Co... OMIM:620504
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Diffuse ... OMIM:252160
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Hypertonia, Focal-onset seizure, Cerebellar vermis hypoplasia, Generalized-onset... OMIM:620024
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Parakeratosis, Spasticity, Tremor, Hyperkeratosis, Spastic paraplegia, Ataxia, Dys... OMIM:618527
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Postorgasmic Illness Syndrome
Irritability, Depression, Hypertension, Hyperhidrosis, Palpitations, Xerostomia ORPHA:279947
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor OMIM:618381
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Seizure OMIM:617360
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Inability to walk, Truncal ataxia, Generalized-onset seizure, Cerebellar at... OMIM:620066
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Aplasia cutis congenita, Spotty hypopigmentation ORPHA:79133
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Seizure, Atrophic scars, High palate, Thin skin, Mitral valve prolapse, Oligohydramnios ORPHA:536467
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Seizure, Gait disturbance, Myoclonus, Focal impaired ... ORPHA:845
Kyphoscoliotic Ehlers-Danlos Syndrome
Difficulty walking, Dextrocardia, High palate, Thin skin, Cerebral hemorrhage, Bicuspid aortic va... ORPHA:536545
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Rectal prolapse, Gastroesophageal reflux, Anorectal anomaly, Depression, Con... ORPHA:285
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Aplasia cutis congenita OMIM:615297
Atypical Werner Syndrome
Congestive heart failure, Premature ovarian insufficiency, Skin ulcer, Secondary amenorrhea, Neop... ORPHA:79474
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Subcutaneous... ORPHA:1366
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Mandibuloacral Dysplasia
Thin skin, High palate, Abnormal tongue morphology ORPHA:2457
Burning Mouth Syndrome
Impaired temperature sensation, Smooth tongue, Depression, Dysesthesia, Emotional lability, Straw... ORPHA:353253
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Hypertonia, Chorea, Seizure, Spastic tetraparesis, Exaggerated startle response... OMIM:272750
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Seizure, Hypertension, High palate, Thin skin, Failure to thrive, Bifid uvula, Ataxia, Edema, Mac... OMIM:266920
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Chiari type I malformation, Bilateral tonic-clonic seizure OMIM:618316
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Spondylodysplastic Ehlers-Danlos Syndrome
Numerous nevi, Abnormal heart valve morphology, Atrophic scars, Lymphedema, Pulmonic stenosis, Ao... ORPHA:536471
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Status epilepticus, Generalized-onset seizure ORPHA:564178
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Gastroesophageal reflux, Milia, Depression, Nevus, Decreased body weight, Abnormal ... ORPHA:89842
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Renal cortical microcysts, Hypospadias, Renal cyst OMIM:614866
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Molluscoid pseudotumors, Thin skin, Arteri... OMIM:225400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Amyotrophic Lateral Sclerosis
Babinski sign, Frontotemporal dementia, Fasciculations, Depression, Spasticity, Emotional labilit... ORPHA:803
Tooth Agenesis, Selective, 4
Hypohidrosis, Thin skin, Palmoplantar hyperhidrosis, Palmar hyperkeratosis OMIM:150400
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Melas
Focal-onset seizure, Intestinal pseudo-obstruction, Cardiomyopathy, Ataxia, Recurrent pancreatiti... ORPHA:550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Infant... ORPHA:404454
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure, Inability to walk ORPHA:258
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic... OMIM:614231
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Aplasia cutis congenita, Congenital lo... ORPHA:1114
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation ORPHA:453510
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Tetralogy of Fallot, Asymmetric, linear... OMIM:300887
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Rectovaginal fist... OMIM:129900
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Cerebe... OMIM:620455
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormality of the gastrointesti... ORPHA:85443
Meier-Gorlin Syndrome 1
Gastroesophageal reflux, High palate, Thin skin, Failure to thrive, Cleft palate, Small for gesta... OMIM:224690
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypertonia, Limb hypertonia, Dysplastic pu... ORPHA:3455
Recon Progeroid Syndrome
Thin skin OMIM:620370
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Limb hypertonia, Spastic tetraparesis, Bilateral tonic-clonic seizure, Clonus, Opt... ORPHA:423479
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Infan... OMIM:618733
Xeroderma Pigmentosum, Complementation Group A
Hypermelanotic macule, Distal sensory impairment, Erythematous papule, Spasticity, Dermal atrophy... OMIM:278700
Williams Syndrome
Hypertension, Cerebral ischemia, Tracheoesophageal fistula, Pulmonic stenosis, Ataxia, Mitral val... ORPHA:904
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Agel Amyloidosis
Diffuse skin atrophy, Depression, Cardiomyopathy, Deficit in phonologic short-term memory, Arrhyt... ORPHA:85448
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Hyperphosphatasia-Intellectual Disability Syndrome
Oculomotor apraxia, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Ataxia, Myoclonus ORPHA:247262
Mandibuloacral Dysplasia With Type A Lipodystrophy
Thin skin, High palate, Dermal atrophy ORPHA:90153
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Lenz-Majewski Hyperostotic Dwarfism
Thin skin, Chordee, Cleft palate, Failure to thrive, Microglossia, Anteriorly placed anus OMIM:151050
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... ORPHA:805
Choreoacanthocytosis
Hair-pulling, Chorea, Head titubation, Dysphagia, Impaired vibratory sensation, Bradyphrenia, Irr... ORPHA:2388
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Glossitis, Diarrhea, Cachexia, Hamartomatous polyposis, Vomiting, Hem... OMIM:175500
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Lyme Disease
Memory impairment, Skin nodule, Atrioventricular block, Arrhythmia, Joint swelling, Dermal atroph... ORPHA:91546
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure... ORPHA:369837
Cocaine Intoxication
Focal-onset seizure, Prolonged QT interval, Hypertension, Hyperhidrosis, Prolonged QRS complex, D... ORPHA:90068
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hypertonia, Hair-pulling, Gastroesophageal reflux, Lower limb spasticity, Infantile... ORPHA:447997
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Werner Syndrome
Congestive heart failure, Skin ulcer, Secondary amenorrhea, Neoplasm of the small intestine, Hype... ORPHA:902
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Seizure, Pulmonary arterial hypertension, Right atrial en... OMIM:616028
Mitochondrial Dna-Associated Leigh Syndrome
Hypertonia, Generalized myoclonic seizure, Chorea, Spasticity, Seizure, Infantile spasms, Bilater... ORPHA:255210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Thin skin, Constipation, Hypoplastic-absent sebaceous glands, Anhidrosis OMIM:305100
Acute Radiation Syndrome
Skin ulcer, Diarrhea, Seizure, Hyperkeratosis, Hypotension, Vomiting, Dermal atrophy, Telangiectasia ORPHA:454831
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Gait imbalance, Seizure, Gait disturbance, Bilateral tonic-clonic seizure wit... ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Tongue fasciculations, Spasticity, Cerebellar atrophy, Optic neuropathy, Bilateral... OMIM:252010
Wolfram Syndrome
Gastrointestinal hemorrhage, Seizure, Cardiomyopathy, Constipation, Ataxia, Hypogonadism, Dementi... ORPHA:3463
Even-Plus Syndrome
Patent foramen ovale, High palate, Anal atresia, Atrial septal defect, Oligohydramnios, Aplasia c... OMIM:616854
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts OMIM:311200
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Neonatal death, Bilateral tonic-clonic seizure OMIM:620300
Huriez Syndrome
Palmoplantar keratoderma, Aplasia/Hypoplasia of the skin ORPHA:384
Adult Syndrome
Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Desmosterolosis
Hypertonia, Seizure, Spasticity, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Status e... ORPHA:35107
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Osteogenesis Imperfecta, Type I
Thin skin, Mitral valve prolapse OMIM:166200
Acrorenal-Mandibular Syndrome
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter OMIM:200980
Mandibuloacral Dysplasia With Type B Lipodystrophy
Thin skin, Dermal atrophy ORPHA:90154
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Pemphigus Erythematosus
Hypopigmented skin patches, Localized skin lesion, Focal dermal aplasia/hypoplasia, Acantholysis,... ORPHA:79480
Foodborne Botulism
Diarrhea, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Arrhythmia, Paralysis... ORPHA:228371
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Micropenis ORPHA:96149
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure,... OMIM:261515
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Unsteady gait, ... OMIM:614947
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Anal atr... ORPHA:1807
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hypertonia, Inability to walk, Seizure, Spasticity, Ataxia, Convulsive status epilepticus OMIM:608885
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:616546
Stiff Skin Syndrome
Impaired pain sensation, Hypertension, Aplasia/Hypoplasia of the skin, Subcutaneous nodule ORPHA:2833
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Skin ulcer, Gastroesophageal reflux, Dyspareunia, Hypertensive crisis, ... ORPHA:220393
Warburg-Cinotti Syndrome
Corneal neovascularization, High palate, Thin skin, Joint swelling, Follicular hyperkeratosis OMIM:618175
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur... ORPHA:513456
Yao Syndrome
Diarrhea, Ventricular hypertrophy, Pericarditis, Weight loss, Xerostomia OMIM:617321
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hippocampal atrophy, Poor gross motor coordination, Seizure, Bilateral tonic-cl... OMIM:614756
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Hypospadias, Renal cyst OMIM:102500
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Adult Syndrome
Thin skin, Dermal atrophy OMIM:103285
Iatrogenic Botulism
Orthostatic hypotension, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Xerost... ORPHA:254509
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Botulism
Diarrhea, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Arrhythmia, Xerostomia ORPHA:1267
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... ORPHA:2044
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Webbed neck, Abnormal gastrointestinal tract morphology, High p... ORPHA:2990
Ethylene Glycol Poisoning
Pulmonary edema, Congestive heart failure, Gastritis, Prolonged QT interval, Atrial fibrillation,... ORPHA:31826
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Dandy-Walker malformation, Seizure, Tetraplegia, Bilateral tonic-c... OMIM:257300
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Cachexia, Aplasia/Hypoplasia of the skin, Weight loss ORPHA:1979
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:263520
Erythermalgia, Primary
Diarrhea, Constipation, Hyperhidrosis, Palpitations, Xerostomia OMIM:133020
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Restrictive Dermopathy 1
Polyhydramnios, Submucous cleft hard palate, Thin skin, Skin erosion, Atrial septal defect, Oligo... OMIM:275210
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Elongated superior cerebellar peduncle, Abnormal dentate nucleus morphology, Tonic... OMIM:619512
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia ORPHA:84064
Wiedemann-Rautenstrauch Syndrome
Hypertonia, Truncal ataxia, Intention tremor, Thin skin, Failure to thrive, Secundum atrial septa... OMIM:264090
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Hypoplasia of the bladder... OMIM:249000
Ogden Syndrome
Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis OMIM:300855
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Broad-based gait, Seizure, Bilateral toni... ORPHA:268261
22Q11.2 Deletion Syndrome
Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Multiple renal... ORPHA:567
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Oculocerebrocutaneous Syndrome
Focal dermal aplasia/hypoplasia, Seizure, Cleft palate OMIM:164180
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Epidermolysis Bullosa Simplex With Pyloric Atresia
Polyhydramnios, Milia, Scarring alopecia of scalp, Atrophic scars, Congenital pyloric atresia, Vo... ORPHA:158684
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
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
Magel2-Related Prader-Willi-Like Syndrome
Gastroesophageal reflux, Impaired temperature sensation, Seizure, Infertility, Increased body wei... ORPHA:398069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Gastroparesis, Impaired temperature sensat... ORPHA:739
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Nodular Non-Suppurative Panniculitis
Edema, Aplasia/Hypoplasia of the skin, Weight loss, Subcutaneous nodule ORPHA:33577
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Adams-Oliver Syndrome 2
Seizure, Oligohydramnios, Aplasia cutis congenita, Limb hypertonia OMIM:614219
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Generalized myoclonic seizure, Hypertonia, Skin ulcer, Oculomotor apraxia, Broad-bas... ORPHA:2072
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Tremor, Ataxia, Bilateral tonic-clonic seizure OMIM:610505
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Skin tags, Seizure, Aplasia/Hypoplasia of the skin, Preauricular skin... ORPHA:1647
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Seizure, Infertility, Central hypothyroidism, Failure to thrive, ... ORPHA:398079
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Holoprosencephaly 14
Dandy-Walker malformation, Partial absence of cerebellar vermis, Cerebellar atrophy, Bilateral to... OMIM:619895
Keutel Syndrome
Pulmonary arterial hypertension, Seizure, Ventricular septal defect, Dermal atrophy ORPHA:85202
Infant Botulism
Hypertension, Cardiac arrest, Cerebral palsy, Bowel incontinence, Hypotension, Constipation, Dysp... ORPHA:178478
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Cutis Marmorata Telangiectatica Congenita
Seizure, Aplasia/Hypoplasia of the skin, Ascites, Multiple cafe-au-lait spots, Cognitive impairme... ORPHA:1556
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Dermal atrophy, Aplasia/Hypoplasia of the skin, Papule ORPHA:257
Loeys-Dietz Syndrome
High palate, Cardiac arrest, Thin skin, Bifid uvula, Atypical scarring of skin, Striae distensae ORPHA:60030
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Apraxia ORPHA:99885
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Seizure, Cardiac arrest, Ventricular fibrillation, Failure to thrive... OMIM:300952
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia, Cerebral cortical atrophy, Cereb... ORPHA:457359
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Babinski sign, Global brain atrophy, Akinesia, Bradykinesia, Abnormality of extrap... OMIM:234200
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Gastritis, Gastroesophageal reflux, Seizure, Pulmonary ... ORPHA:809
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Micropenis, Renal hypoplasia, Renal cyst OMIM:210710
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Hypertension, Ascites, Failure to thrive, Poor coordin... OMIM:610965
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Broad-based gait, Bilateral tonic-clonic seizure, Myoclo... OMIM:620330
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Vascular Ehlers-Danlos Syndrome
Gastrointestinal infarctions, High, narrow palate, Abnormal heart valve morphology, Abnormal inte... ORPHA:286
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Mental deterioration, Spasticity, Ataxia, Choreoathetosis, Dermal atr... OMIM:278730
Localized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Skin detachment, Atypical scarring of skin, Aplasia cutis cong... ORPHA:251393
Dyskeratosis Congenita
Hypopigmented skin patches, Hypermelanotic macule, Skin ulcer, Anorectal anomaly, Aplasia/Hypopla... ORPHA:1775
Intellectual Developmental Disorder, X-Linked, Syndromic 33
High, narrow palate, Sacral dimple, Gait imbalance, Gastroesophageal reflux, Oral-pharyngeal dysp... OMIM:300966
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Febrile seizure ... ORPHA:459070
Trisomy 13
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter ORPHA:3378
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cerebral atrophy, Spasticity, Seizure, Bilateral tonic-clonic seizure OMIM:301040
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Hoyeraal-Hreidarsson Syndrome
Hypertonia, Failure to thrive, Ataxia, Oral leukoplakia, Dermal atrophy ORPHA:3322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure, Inability to walk ORPHA:352665
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Seizure, Anal atresia, Chordee, Cleft palate, Colonic atresia, Asymm... OMIM:309801
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Pulmonary arterial hypertension, Dysphagia, Telangiectasia of ... ORPHA:81
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure, Paraparesis ORPHA:79124
Inhalational Botulism
Diarrhea, Paralysis, Xerostomia, Constipation ORPHA:254504
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure OMIM:615926
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, High palate, Ataxia, Generalized tonic seizure OMIM:616393
Curry-Jones Syndrome
Intestinal malrotation, Hypopigmented skin patches, Aplasia/Hypoplasia of the skin ORPHA:1553
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Vasculitis in the skin, Annular cutaneous lesion, Dermal atrophy ORPHA:163525
Femoral-Facial Syndrome
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis OMIM:134780
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Inability to walk, Limb hypertonia, Seizure, Spasticity, Spastic tetraparesi... OMIM:620371
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Ramos-Arroyo Syndrome
Aganglionic megacolon, Severe failure to thrive, Smooth tongue, Decreased body weight, Chronic co... ORPHA:1051
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Tricuspid valve prolapse, Sacral dimple, Seizure, Abnormal rectum mor... ORPHA:2556
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... ORPHA:887
Monosomy 22Q13.3
Palpebral edema, Sacral dimple, Hair-pulling, Gastroesophageal reflux, Impaired pain sensation, S... ORPHA:48652
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Ablepharon Macrostomia Syndrome
Thin skin ORPHA:920
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:2636
Xeroderma Pigmentosum Variant
Dermal atrophy, Telangiectasia ORPHA:90342
Poikiloderma With Neutropenia
Palmoplantar keratoderma, Hyperkeratosis, Dermal atrophy, Edema, Plantar hyperkeratosis, Telangie... OMIM:604173
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Diarrhea, In... OMIM:147060
Kindler Epidermolysis Bullosa
Milia, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Esophagitis, Inflammation of the large int... ORPHA:2908
Kindler Syndrome
Anal stenosis, Diffuse skin atrophy, Palmoplantar hyperkeratosis, Dysphagia, Telangiectasia of th... OMIM:173650
Rothmund-Thomson Syndrome
Diarrhea, Infertility, Aplasia/Hypoplasia of the skin, Vomiting, Telangiectasia of the skin, Palm... ORPHA:2909
Dermatomyositis
Myocarditis, Palmar hyperkeratosis, Skin ulcer, Vasculitis, Sinus tachycardia, Aplasia/Hypoplasia... ORPHA:221
Mody
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst ORPHA:552
Prune Belly Syndrome
Xerostomia, Oligohydramnios, Anal atresia OMIM:100100
Peutz-Jeghers Syndrome
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter ORPHA:2869
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Functional abnormality of the gastrointestinal tract, Diarrhea, ... ORPHA:221008
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Intestinal Botulism
Diarrhea, Dysphagia, Xerostomia ORPHA:178481
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Confusion, Spasticity, Ataxia, Dermal atrophy ORPHA:220295
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic seizure OMIM:280000
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Meckel Syndrome, Type 7
Pancreatic cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerul... OMIM:267010
Kilquist Syndrome
Gastroesophageal reflux, Midgut malrotation, Intestinal malrotation, Chronic constipation, Xerost... OMIM:619080
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Optic disc coloboma OMIM:234100
Lujo Hemorrhagic Fever
Resting tremor, Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Cystic Echinococcosis
Membranous nephropathy, Ovarian cyst, Hepatic cysts, Renal cyst ORPHA:400
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:1657
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
Ablepharon-Macrostomia Syndrome
Thin skin, Anteriorly placed anus OMIM:200110
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Atonic seizure, Typical absence seizure, Focal-onset seizure OMIM:617157
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Telangiectasia of the skin, Dermal atrophy OMIM:615381
Joubert Syndrome 14
Renal cyst OMIM:614424
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Skin erosion, Aplasia cutis congenita OMIM:609638
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Eec Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hyperkeratosis, ... ORPHA:1896
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Primary Sjögren Syndrome
Skin ulcer, Arteritis, Depression, Thyroiditis, Seizure, Parotitis, Chorea, Vasculitis, Cognitive... ORPHA:289390
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... ORPHA:2473
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Toriello-Lacassie-Droste Syndrome
Polyhydramnios, Aganglionic megacolon, Aplasia/Hypoplasia of the skin, Failure to thrive ORPHA:3339
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Focal-onset seizure, Seizure, Infantile spasms, Spastic tetraparesis, Bilateral tonic... OMIM:301044
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Dysosteosclerosis
Ventricular septal defect, Aplasia/Hypoplasia of the skin ORPHA:1782
Cockayne Syndrome B
Severe failure to thrive, Seizure, Tremor, Hypertension, Anhidrosis, Failure to thrive, Ataxia, A... OMIM:133540
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:143
Hutchinson-Gilford Progeria Syndrome
Hypermelanotic macule, Ventricular hypertrophy, Hypertension, Papule, Female hypogonadism, Aortic... ORPHA:740
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis OMIM:618454
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Milia, Smooth tongue, Atrophic scars, Failure to thrive, Aplasia cutis congenita on trunk or limb... ORPHA:79396
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Oculoectodermal Syndrome
Epidermal nevus, Seizure, Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Pre... OMIM:600268
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464311
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, Horseshoe kidney, Hypospadias, Long penis OMIM:268300
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Gaucher Disease
Generalized myoclonic seizure, Oculomotor apraxia, Abnormality of extrapyramidal motor function, ... ORPHA:355
Doors Syndrome
Optic atrophy, Dandy-Walker malformation, Bilateral tonic-clonic seizure, Myoclonus, Small cerebe... ORPHA:79500
Mosaic Trisomy 9
Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney ORPHA:99776
Xeroderma Pigmentosum, Complementation Group B
Dermal atrophy, Ataxia, Hypogonadism OMIM:610651
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Chronic Graft Versus Host Disease
Skin ulcer, Abnormal esophagus physiology, Gastroesophageal reflux, Intermittent generalized eryt... ORPHA:99921
Lambert-Eaton Myasthenic Syndrome
Impotence, Hypohidrosis, Constipation, Orthostatic hypotension due to autonomic dysfunction, Xero... ORPHA:43393
Sjogren Syndrome
Xerostomia OMIM:270150
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464306
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
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst ORPHA:284
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux ORPHA:2059
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... OMIM:613254
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Graves disease, Hashimoto thyroiditis, Autoimmune hypoparathyroid... ORPHA:227982
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Barber-Say Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:1231
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Exaggerated startle response, Invo... ORPHA:438213
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Multiple renal cysts ORPHA:464329
Tuberous Sclerosis 1
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Polyhydramnios, Aplasia cutis congenita, Congenital pyloric atresia ORPHA:79403
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Anal fissure, Gastroesophageal reflux, Milia, Depression, Atrophic... ORPHA:79408
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Crossed fused renal ectopia, Renal dysplasia, Multicyst... ORPHA:2538
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Trichotillomania
Hair-pulling OMIM:613229
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Ventricular septal defect, Hair-pulling, Gastroesophageal reflux OMIM:620568
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Budd-Chiari syndrome, Dermal atrophy, Oral leukoplakia OMIM:127550
Rothmund-Thomson Syndrome Type 2
Functional abnormality of the gastrointestinal tract, Diarrhea, High palate, Vomiting, Cleft pala... ORPHA:221016
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
Autoimmune Polyendocrinopathy Type 4
Celiac disease, Hypergonadotropic hypogonadism, Xerostomia, Atrophic gastritis ORPHA:227990
Coffin-Siris Syndrome 1
Duodenal ulcer, Sacral dimple, Seizure, High palate, Gait ataxia, Intestinal malrotation, Preauri... OMIM:135900
Helix Syndrome
Hypohidrosis, Hyperparathyroidism, Xerostomia, Anhidrosis OMIM:617671
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... OMIM:270400
Rothmund-Thomson Syndrome, Type 2
High palate, Hypogonadism, Anteriorly placed anus, Small for gestational age, Dermal atrophy, Tel... OMIM:268400
Restrictive Dermopathy
Atrial septal defect, Transposition of the great arteries, Polyhydramnios, Dextrocardia, Webbed n... ORPHA:1662
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis OMIM:229850
Mowat-Wilson Syndrome
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Atypical absence seizure, Atax... ORPHA:2152
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Palpebral edema, Cardiac myxoma, Hypertension, Supraventricular tachyca... OMIM:181270
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Hyperhidrosis, Gastric ulcer OMIM:161700
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma ORPHA:538
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Nep... ORPHA:534
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... ORPHA:798
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Atypical absence seizure ORPHA:261537
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy, Telangiectasia OMIM:278740
Xeroderma Pigmentosum, Variant Type
Cutaneous telangiectasia, Dermal atrophy OMIM:278750
Blau Syndrome
Large vessel vasculitis, Abnormal salivary gland morphology, Skin ulcer, Hypertension, Papule, Pu... ORPHA:90340
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Ureteropelvic junctio... ORPHA:818
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Prostatitis, Sialadenitis, Abnormality of the submandibular g... ORPHA:449432
Pearson Syndrome
Renal cyst, Glycosuria, Proteinuria, Renal insufficiency, Lacticaciduria ORPHA:699
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Inability to walk, Broad-based gait, Seizure, Atypical absence seizure ORPHA:261552
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Skin ulcer, Oral-pharyngeal dysphagia, Diarrhea, Depression, Intes... ORPHA:95455
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Aplasia/Hypoplasia of the skin, Bifid uvula, Cleft palate, Hypogonadism, Sub... ORPHA:2658
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts ORPHA:2750
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... ORPHA:892
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Dyskeratosis Congenita, X-Linked
Hyperhidrosis, Ataxia, Oral leukoplakia, Esophageal stricture, Dermal atrophy, Anal mucosal leuko... OMIM:305000
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydronephrosis, Nephroblasto... ORPHA:373
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy, Telangiectasia OMIM:278720
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Abnormal salivary gland morphology, Thyroiditis, Abnormality of the submandibula... ORPHA:79078
Branchiooculofacial Syndrome
Supraauricular pit, Gastroesophageal reflux, Seizure, Dermoid cyst, Pyloric stenosis, Preauricula... OMIM:113620
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis ORPHA:1606
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Distal Deletion 15Q
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney ORPHA:1596
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Robinow Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis ORPHA:97360
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... ORPHA:110
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:991
Tetrasomy 9P
Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp... ORPHA:3310
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Nephroblastoma, Duplication of renal pe... OMIM:312870
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hydronephrosis, Renal duplication, M... ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Proteus Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Renal cyst, Long penis ORPHA:744
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... OMIM:107480
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... ORPHA:199
Alström Syndrome
Typical absence seizure, Ataxia ORPHA:64
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Multicystic kidney dyspl... OMIM:308205
Genitopatellar Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Pallister-Killian Syndrome
Renal dysplasia, Hypospadias, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter