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Gene: Cacna2d2 MGI:1929813

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Gene Summary

Name:
calcium channel, voltage-dependent, alpha 2/delta subunit 2
Synonyms:
a2d2

Order Alleles

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
preweaning lethality, incomplete penetrance Cacna2d2em1(IMPC)Mbp HOM   Early adult 0.00
enlarged testis Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
tremors Cacna2d2em1(IMPC)Mbp HOM Early adult 1.13×10-06
abnormal vitreous body morphology Cacna2d2em1(IMPC)Mbp HET Early adult 6.35×10-05
abnormal spleen morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Cacna2d2em1(IMPC)Mbp HET Early adult 1.56×10-06
no spontaneous movement Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
abnormal seminal vesicle morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Cacna2d2em1(IMPC)Mbp HET E18.5 0.00
cataract Cacna2d2em1(IMPC)Mbp HET Early adult 7.32×10-05
abnormal spleen morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Cacna2d2em1(IMPC)Mbp HET Early adult 4.99×10-05
small seminal vesicle Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
female infertility Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small heart Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal gait Cacna2d2em1(IMPC)Mbp HOM Early adult 3.38×10-06
abnormal placenta morphology Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
enlarged spleen Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
decreased total body fat amount Cacna2d2em1(IMPC)Mbp HET Early adult 4.90×10-05
increased lean body mass Cacna2d2em1(IMPC)Mbp HET Early adult 6.00×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Human diseases caused by Cacna2d2 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 Cacna2d2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy OMIM:618501

The table below shows human diseases predicted to be associated to Cacna2d2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnorma... OMIM:617836
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Focal motor seizu... OMIM:617665
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... OMIM:617810
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... OMIM:609446
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... ORPHA:139431
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, Typical absen... OMIM:607682
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Generalized non-m... ORPHA:98811
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia ORPHA:1182
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Abnormal pyramidal sign, Impaired proprioception, Limb ataxia, Gait ... ORPHA:95434
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm... OMIM:162350
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, EEG with focal sharp... ORPHA:2382
Developmental Delay With Dysmorphic Facies And Dental Anomalies
EEG abnormality, Spasticity, Seizure, Ataxia OMIM:619228
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention... OMIM:618876
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... OMIM:606777
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Spastic tetraplegia, Myoclon... OMIM:618677
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... ORPHA:86909
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Polyhydramnios, Atrophy/Degeneration affecting the b... OMIM:619971
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, EEG with generalized polyspikes, Seizure, Generalized myoclonic seizure OMIM:614706
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu... OMIM:271980
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia, Cerebellar hypoplasia OMIM:213000
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Recurrent aspiration pneumonia, Waddling gait, Abnormal lower motor neuron morphology, Bi... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Babinski sign, Generalized non-motor (absence) seizure, D... OMIM:618242
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... OMIM:256731
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Wide nasal bridge, Cerebral at... OMIM:609924
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Focal impaired a... OMIM:610003
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... ORPHA:248111
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:614561
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, A... OMIM:607136
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Dystonia, Recurrent upper respiratory tract infections, Abnormal pyrami... ORPHA:352596
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, EEG with burst suppression, Inability to walk, Spastic tetraplegi... OMIM:617929
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cere... OMIM:614254
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious beh... OMIM:300699
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Acn... ORPHA:228346
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure,... OMIM:225753
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Polyhydramnios, Hypoplasi... OMIM:619303
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, EEG abnormality, Seizure, Hypertonia, Olivopontocerebellar atrophy ORPHA:2732
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Dystonia, Increased neuronal autofluoresce... ORPHA:79263
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, ... OMIM:620145
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Anteverted nares, Tonic seizure, Inabi... OMIM:618497
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... OMIM:618170
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Epilepsy, Progressive Myoclonic, 12
Ataxia, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure OMIM:619191
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Seizure, Cerebellar hypoplasia, Bradycardia, Dysphagia, Intrauterine g... OMIM:616276
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... OMIM:208920
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Paroxysmal dyskinesia OMIM:617080
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Intrauterin... OMIM:617065
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... OMIM:204200
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ... OMIM:614487
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 92
Ataxia, Myoclonus, Dystonia, Lethargy, Spasticity OMIM:617829
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form peer relationships, EEG a... OMIM:608636
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Short stature, Failure to thrive in infancy, Babinski sig... OMIM:619065
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Bilateral tonic-clonic seizure, Cardiac arrest, Apnea, Focal motor seizure,... OMIM:618235
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Congenital Disorder Of Glycosylation, Type In
Short stature, Ataxia, Respiratory insufficiency, Cerebral atrophy, Seizure, Myoclonus, Spasticit... OMIM:612015
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal-onset seizure, I... ORPHA:561854
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Respiratory insufficiency, Cerebral atrophy, Seizure, Hypertonia, Bradycardia... OMIM:614654
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Decreased nerve conduction velocity, Dec... ORPHA:90103
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy,... ORPHA:263516
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Neonatal respiratory distress, Ataxia, Prominent nasal bridge, Aggressive beh... OMIM:618356
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Dehydration, Choreoa... ORPHA:79312
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Polyhydramnios, Olivopontocere... ORPHA:166063
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetr... ORPHA:313772
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Cerebral atrophy, Seizure, Hypertonia, Intrauterine growth retardation OMIM:614023
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia OMIM:605909
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Atrophy/Degenerati... OMIM:619862
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Delayed CNS myelination, Infantile spasms, Aggressive behavior, Seizure, Self-inju... OMIM:619031
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Anteverted nares, Infantile spasms, Tonic seizure, Hypoplasia of ... OMIM:615859
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... ORPHA:3006
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:139485
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Splenomegaly, Respiratory insufficiency, Myoclonus, Dystonia ORPHA:139406
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Inability to walk, Multifocal epileptiform discharges, ... ORPHA:411986
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status e... OMIM:618285
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... ORPHA:401820
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, Leukope... OMIM:616271
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Respiratory distress, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Gro... OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy OMIM:618224
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia... ORPHA:251347
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Atrophy/Dege... OMIM:617862
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Fron... ORPHA:391417
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardia, Attention... OMIM:617182
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Seizure, Hyperactivity, Short stature OMIM:300271
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Respiratory insufficiency, Seizure, Athetosis, G... OMIM:618241
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Pericardial effusion, Spasticity, Seizure, Pleural ... OMIM:614702
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Combined Saposin Deficiency
Generalized clonic seizure, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasci... OMIM:611721
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn... OMIM:614436
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi... ORPHA:3095
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive... OMIM:609056
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia, Myoclonic seizure OMIM:619521
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Babinski sign, Unsteady gait, Dysmetria,... ORPHA:1175
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with generalized slow activity grade 4, Ataxia, Typical absence seizure, S... ORPHA:168491
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, F... ORPHA:228360
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... OMIM:614322
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, ... ORPHA:225154
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... OMIM:618090
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... OMIM:614255
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagia, Pa... ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Rigidity, Cerebra... OMIM:619057
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Edema, Status epilepticus, Myoclonus, Short nose OMIM:617507
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Oral-pharyngeal dysphagia, Cerebral atrop... OMIM:616286
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extr... OMIM:615338
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Respiratory insufficiency due to muscle weakness, Degeneration... OMIM:159950
Intellectual Developmental Disorder, Autosomal Dominant 46
Infantile spasms, Tonic seizure, Unsteady gait, Seizure, Focal impaired awareness seizure OMIM:617601
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Uns... ORPHA:420492
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy, Bradycardia ORPHA:2898
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Developmental And Epileptic Encephalopathy 1
Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Dyspnea, Ab... OMIM:308350
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Prominent nose, Atrioventricular block, Growth delay, Cerebellar hypoplasia, Bradycardi... OMIM:614407
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Seizure, Syncope, Bradycardia OMIM:611938
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady ga... ORPHA:98761
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Short stature, Small f... ORPHA:289266
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Mepan Syndrome
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebr... ORPHA:508093
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Respiratory insufficiency, Dehydration,... ORPHA:27
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Increased cerebra... OMIM:610539
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:617493
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... ORPHA:363400
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Respiratory insufficiency, Seizure, Hypertension, ... ORPHA:97229
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Apnea, Seizure, Hypertonia, Myoclonus OMIM:610992
Myoclonus, Intractable, Neonatal
Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation, Da... OMIM:617235
Episodic Ataxia, Type 9
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... OMIM:618924
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Dystonia 12
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia OMIM:128235
D-Glyceric Aciduria
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraple... OMIM:220120
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, EEG abnormality, Generalized myoclonic seizure, Ataxia OMIM:610951
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ... ORPHA:397946
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Liang-Wang Syndrome
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Status epilepticus, Dystonia OMIM:618729
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Ataxia, Seizure OMIM:613402
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure... OMIM:614498
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... OMIM:618917
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... ORPHA:276198
Symmetrical Thalamic Calcifications
Ataxia, Polyhydramnios, Spasticity, Respiratory insufficiency, Seizure, Hypertonia, Arrhythmia, F... ORPHA:1314
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Skin rash, Slender build, Chorea, ... OMIM:617600
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat... OMIM:203450
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Impu... ORPHA:442835
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Dysphagia, Opisthoto... ORPHA:13
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizur... ORPHA:330050
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Paralysis OMIM:613710
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive, Anemia OMIM:610090
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia OMIM:233910
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy OMIM:617900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Central Diabetes Insipidus
Anorexia, Dehydration, Weight loss, Seizure, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Impaired social interactions OMIM:606053
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal cerebellar ped... ORPHA:909
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tre... OMIM:618093
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor OMIM:606438
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Sick sinus syndrome, Bradycardia OMIM:617173
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Startle-induced seizure, Ataxia, Infantile spasms, Hypoplasia of th... ORPHA:467166
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Iner... ORPHA:216873
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... OMIM:606693
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral... OMIM:618088
Harel-Yoon Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Dystonia,... OMIM:617183
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Tachycardia, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordin... ORPHA:79264
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami... ORPHA:2131
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Cerebral atrophy,... OMIM:256730
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Lymphedema, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spastici... ORPHA:79279
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia,... ORPHA:98768
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Atrophy/Degeneration affecting the brainstem, Spasticity, Respiratory failure, Bradycardia... OMIM:616277
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Short stature, Prominent nasal bridge, Cerebral atrophy, Myo... OMIM:619060
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,... ORPHA:95232
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia ORPHA:306511
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk, Cere... OMIM:103050
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration, Generalized clonic seizure OMIM:614265
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Wide nose, Bilateral tonic-clonic seizure with generalized onset, Short statu... OMIM:615851
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Nipah Virus Disease
Respiratory distress, Anorexia, Tremor, Recurrent pharyngitis, Seizure, Myoclonus, Hypotension, C... ORPHA:99825
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic... ORPHA:352582
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Abnormal cerebellum morpho... ORPHA:565624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Parkinsonism, Abnormality of the thyroid gland, Cerebral atrophy, Sensory atax... OMIM:609286
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Nonproductive cough, Fulminant hepatitis, Periorbit... ORPHA:319213
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Decr... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... OMIM:616155
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Combined Malonic And Methylmalonic Acidemia
Generalized clonic seizure, Dehydration, Seizure, Focal impaired awareness seizure, Dystonia, Fai... ORPHA:289504
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Neuropathic spinal art... OMIM:607706
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Propionic Acidemia
Pancytopenia, Short stature, Apnea, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, N... OMIM:606054
Developmental And Epileptic Encephalopathy 101
Apnea, Opisthotonus, Seizure, Third degree atrioventricular block, Bradycardia, Myoclonus OMIM:619814
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus OMIM:605899
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Anteverted nares, Tremor, Cerebellar gliosis, Babinski sign, Bulbous ... OMIM:616505
Thyrocerebrorenal Syndrome
Slurred speech, Seizure, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis... ORPHA:3327
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Spasticity, Focal impaired a... OMIM:620149
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Short stature, Clonus, Polyhydramnios, Small for gestational age, ... OMIM:619847
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... ORPHA:98
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Hurler-Scheie Syndrome
Short stature, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign, Cardiomyopathy,... ORPHA:93476
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Prominent nasal bridge, ... OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... OMIM:615768
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Paroxysmal Hemicrania
Restless legs, Diabetes mellitus, Palpebral edema, Focal sensory seizure with olfactory features,... ORPHA:157835
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... OMIM:618811
Chronic Hiccup
Weight loss, Dehydration, Abnormal eating behavior ORPHA:396
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Seizure, Disinhibition, Myoclonus, Gait disturbance, Apraxia, Cer... OMIM:618193
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Paraparesis, Inability to walk, Oro... OMIM:617854
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Seizure ORPHA:436151
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Small for gestational age, Tremor, Flared nostrils, Wide nasal bridge, Cerebral... OMIM:312170
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Pericardi... ORPHA:60041
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Vocal cord paralysis, Weight loss, Chia... ORPHA:221098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Seizure, Bradycardia, Hypertrophic cardi... OMIM:618815
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy OMIM:613002
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... OMIM:619279
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Seizure, Dyston... OMIM:616034
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... OMIM:604320
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycard... OMIM:616299
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Athe... ORPHA:382
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... ORPHA:501
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Short stature, Bilateral tonic-clonic seizure, Myocardial infarction, ... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Trunca... OMIM:616127
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gai... ORPHA:1947
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Short stature, Ataxia, Dilated cardiomyopathy, Babinski sign, Spasticity, Seizure, Myoc... OMIM:252011
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, Respiratory insufficiency, ... OMIM:617290
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Abnormality of extrapyramidal ... OMIM:607822
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Pneumoth... OMIM:619738
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Involuntary movements, Decreased number... OMIM:271245
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ... ORPHA:71517
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... ORPHA:401830
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of ... OMIM:607596
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... OMIM:618060
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Seizure, Hypertonia, Generaliz... OMIM:617188
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure,... OMIM:618877
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Limb joint contracture, Clonus, Chorea, Delayed myel... OMIM:613811
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ... ORPHA:478029
Gaucher Disease, Type Iii
Pancytopenia, Short stature, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized my... OMIM:231000
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthoto... OMIM:616672
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... OMIM:616710
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy... ORPHA:431329
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... OMIM:208900
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Focal impaired awarenes... OMIM:620208
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasti... OMIM:618201
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... OMIM:619854
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid... ORPHA:171876
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration, Transient neonatal diabet... OMIM:601410
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Hypoplasia of the pons, Fo... OMIM:619301
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... OMIM:270550
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Bilateral tonic-clonic seizure with gene... ORPHA:1929
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:620094
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, A... ORPHA:309162
Beta-Ketothiolase Deficiency
Ataxia, Thrombocytosis, Anorexia, Edema, Cough, Leukocytosis, Tachypnea, Dehydration, Weight loss... ORPHA:134
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, EEG with burst suppression, Hypsarrhythmia, EEG abnormality, Uni- and bi... ORPHA:1934
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospa... OMIM:617282
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Failure to thrive OMIM:250620
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Central hypoventilation, No... OMIM:620167
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... ORPHA:99802
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... OMIM:620011
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia OMIM:619724
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:356
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... OMIM:617166
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Chronic otitis media... ORPHA:33355
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Seizure, Bradycardia, Hypertrophic c... OMIM:617222
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Tetraplegia OMIM:274270
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Multi... ORPHA:79097
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Dy... OMIM:617435
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... ORPHA:99013
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Neutropenia, Spasticity, Opisthotonus,... ORPHA:445038
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Apnea, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity OMIM:618225
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Congestive heart failure, Bradycardia, Brain atrophy, Intrauterine growth retardation, Fai... OMIM:619048
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia, Parkinsonism with favorable respons... ORPHA:240085
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Lymphaden... ORPHA:507
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Central Neurocytoma
Lethargy, Babinski sign, Ataxia, Depression ORPHA:73256
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve... ORPHA:98755
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Thrombocytopenia, Recurrent pneumon... ORPHA:47612
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... OMIM:612319
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... ORPHA:276244
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spa... ORPHA:363722
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Hartnup Disorder
Hyperactivity, Short stature, Seizure, Attention deficit hyperactivity disorder, Generalized toni... OMIM:234500
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Hypertension, Failure to thrive OMIM:616069
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Skin rash, Infantile spasms, Aggressive behavior, Panc... OMIM:618321
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dysphagia OMIM:300857
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Torticollis, Impaired vi... OMIM:619686
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Recurrent upper respiratory tract infections... ORPHA:3078
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... ORPHA:204
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon... ORPHA:284289
Neuraminidase Deficiency
Short stature, Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymphocytes, Slurre... OMIM:256550
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Apathy ORPHA:306692
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Cerebellar vermis hypoplasia, Depressed nasal bridge, Failure to thrive in infan... ORPHA:284417
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Edema, Action tremor, Unsteady ga... OMIM:254900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Abnormality of extrapyramidal motor function, Action tremor OMIM:302500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Seizure, Inappropriate beh... OMIM:221770
Narp Syndrome
Ataxia, Short stature, Babinski sign, Seizure, Progressive gait ataxia, Corticospinal tract atrop... ORPHA:644
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spastic Paraplegia 7, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Upper limb muscle weakne... OMIM:607259
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia... OMIM:238970
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... OMIM:613970
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy, Seizure, Hypoplasia of the brainstem, Cere... ORPHA:352682
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Aspiration pneumonia, Laryngeal ... ORPHA:845
Peho Syndrome
Cerebellar atrophy, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Seizure, My... OMIM:260565
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... ORPHA:2552
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... OMIM:619574
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decre... OMIM:614559
Hyperekplexia 4
Cerebral atrophy, Seizure, Respiratory failure, Hypertonia, Myoclonus OMIM:618011
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Brain-Lung-Thyroid Syndrome
Respiratory distress, Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormon... ORPHA:209905
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Hypergonadotropic hypogonadis... OMIM:607426
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n... ORPHA:276435
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy OMIM:618501
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... ORPHA:163985
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Whipple Disease
Myositis, Myocardial infarction, Anorexia, Abnormal pyramidal sign, Uveitis, Pedal edema, Cough, ... ORPHA:3452
Severe Canavan Disease
Lethargy, Spasticity, Babinski sign, Decerebrate rigidity ORPHA:314911
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Bradycardia, Respiratory insufficiency, Dysph... OMIM:620265
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Compulsi... OMIM:615157
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Babinski sign, Unsteady gait, Horner syndrome, Gait ataxia, Chiari type I ... OMIM:186700
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Decreased nasal nitr... OMIM:612650
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Ataxia, Cardiac arrest, Apnea, Spastic hemiparesis, Anorexia, Edema, Leukocyt... ORPHA:20
Tetanus
Respiratory distress, Tachycardia, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertension, Hyper... ORPHA:3299
Perry Syndrome
Parkinsonism, Tremor, Depression, Apathy, Abnormality of extrapyramidal motor function ORPHA:178509
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Inability to walk, Delayed mye... ORPHA:544469
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Short stature, Decreased nasal nitric oxide, Bronchiectasis, Immot... OMIM:612649
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... OMIM:618157
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Epileptic spasm OMIM:619561
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Restless legs, Skeletal muscle atrophy,... ORPHA:101085
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Hypothyroidism, Recurrent upper respirato... OMIM:301082
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610743
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera... ORPHA:363558
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
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 1
Female infertility OMIM:615774
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Anteverted nares, Depressed nasal bridge, Wide nasal bridge... OMIM:610015
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypertonia, Dystonia ORPHA:26792
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615505
Chudley-Mccullough Syndrome
Seizure, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Seizure, Cer... OMIM:617397
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Infantile spasms OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Dehydration, Seizure, Leukopenia, Bone marrow hypocellularit... OMIM:243500
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C... ORPHA:157846
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, ... OMIM:615816
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Tr... OMIM:210000
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Dehydration, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... OMIM:608800
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... ORPHA:276241
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Rhin... OMIM:615500
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Short stature, ... ORPHA:364028
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Dysesthesia, Unsteady gait, Distal senso... ORPHA:79101
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Myoclonus, Failure to thrive, Limb hypertonia OMIM:607196
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Dystonia, Hypoplasia of the pons, Seizure, Cerebellar h... OMIM:617669
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Meckel Syndrome, Type 8
Ambiguous genitalia, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Pelizaeus-Merzbacher Disease
Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, ... OMIM:312080
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Abnormal cerebe... ORPHA:280234
Cog8-Cdg
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem, Fai... ORPHA:95428
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure OMIM:617201
Netherton Syndrome
Hypernatremic dehydration, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Angioede... OMIM:256500
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Favor... ORPHA:353327
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... ORPHA:309155
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Apnea, Hypertonia, Syncope, Myoclon... OMIM:614618
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Timothy Syndrome
Prolonged QT interval, Depressed nasal bridge, Pneumonia, Ventricular tachycardia, Atrioventricul... OMIM:601005
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Seizure, Brad... ORPHA:66529
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Dysmetria, Diffuse demyelination of the cerebral white matter, Hyperactivity, Atax... ORPHA:139396
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Optic atrophy, Scissor gait, Cerebra... OMIM:278800
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Dystonia, Spa... OMIM:615528
H Syndrome
Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Amenorrhea, Hepatosplenomegaly, Lymp... ORPHA:168569
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Seizure, Gait disturba... ORPHA:412217
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Short stature, Small for gestational age... OMIM:300957
Niemann-Pick Disease Type C
Generalized-onset seizure, Fetal ascites, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyrami... ORPHA:646
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Dehydration, Dysphagia, Intrauterine growth retardation, Failure to thrive OMIM:618958
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... OMIM:616726
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Baker-Gordon Syndrome
Prominent nasal tip, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-inju... OMIM:618218
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Pontocerebellar Hypoplasia, Type 7
Ataxia, Apnea, Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Spastic paraplegia, Wide ... OMIM:614969
17Q11.2 Microduplication Syndrome
Macroorchidism, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:139474
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Anteverted nares, Broad nasal tip, Tremor, Dy... ORPHA:529665
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Cerebral hemorrhage, Dysphagia ORPHA:324708
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... ORPHA:268882
Yellow Nail Syndrome
Sinusitis, Lymphedema, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic vessels, Cough,... ORPHA:662
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Pyruvate Carboxylase Deficiency
Failure to thrive, Dystonia, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Anorex... ORPHA:3008
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... ORPHA:401866
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Absent puber... ORPHA:464282
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness OMIM:300558
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardi... ORPHA:542306
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... ORPHA:496756
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:616481
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involvin... ORPHA:139399
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Adult Krabbe Disease
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... ORPHA:206448
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Multifocal epileptifor... OMIM:615398
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Abnormal pyra... ORPHA:213
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Dystonia, Polyhydramnios, Hypoplasia of the pons, Vocal cord paralysis, Seizure,... ORPHA:500144
Eosinophilic Gastroenteritis
Allergic rhinitis, Edema, Eosinophilia, Asthma, Leukocytosis, Atopic dermatitis, Weight loss, Hem... ORPHA:2070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Hydrocephalus, Flexion contracture... OMIM:613155
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Juvenile cataract, Wrist flexion... OMIM:300055
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Ataxia, Generalized clonic seizure, Tremor, Fo... OMIM:619229
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Distal sensory impairment, ... OMIM:616287
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Carboxypeptidase N Deficiency
Angioedema, Allergic rhinitis OMIM:212070
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Bilateral tonic-clonic seizure, Spastic tetraparesis, Tonic seizure, Infantil... OMIM:618012
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Partington Syndrome
Macroorchidism ORPHA:94083
Dihydropyrimidinase Deficiency
Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Flexion contracture... OMIM:616204
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia... OMIM:617281
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rhinitis, Respirator... OMIM:614874
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Ataxia, Dystonia OMIM:246900
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy... ORPHA:1532
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Cryptorchidism, Growth delay, Myoclonus, Arrhythmia, Abnormal pattern of respiration ORPHA:168593
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Optic atrophy, Le... OMIM:617303
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Unsteady gait, Seizure, Hypertonia, Status epilepticu... ORPHA:79096
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, Myoclonus, Atypical absence se... ORPHA:72
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Spastic tetraplegia, Respiratory insufficiency, Cerebral atrophy, Growth delay, Seizure, M... OMIM:614462
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Anteverted nares, Tremor, Splenomegaly, Chorea, Leukocytosis, Clum... OMIM:615673
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen... OMIM:162100
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thr... OMIM:615010
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Bronchiectasis, Hepa... ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Lethargy, Spa... ORPHA:765
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Limb hypertonia OMIM:617162
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A... ORPHA:369939
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Seizure, Myoclonus, Failure ... OMIM:300673
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Obesity OMIM:615995
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Babinski sign, Tongue thrust... OMIM:608643
Superficial Siderosis
Back pain, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait a... ORPHA:247245
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Clonus, Hypoplasia of the pons, Abnormal pyramidal sign, Hypoplasia of t... ORPHA:370959
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati... ORPHA:3156
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorchidism, Umbilical h... ORPHA:284180
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Congenita... OMIM:194080
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... OMIM:620224
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Short stature, Ataxia, Postural tremor, Seborrheic dermatitis, Splenomegaly, ... OMIM:301072
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... OMIM:109150
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Familial Cold Urticaria
Dysesthesia, Dehydration, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Head titubation, Rigidity, Babinski sign, Chor... OMIM:608804
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... ORPHA:1020
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Morm Syndrome
Cataract, Retinal atrophy, Abnormality of the kidney, Truncal obesity, Micropenis ORPHA:75858
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Imm... OMIM:615444
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat... OMIM:212138
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Failure to thrive, Respiratory insufficiency, Dehydration ORPHA:28
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Cerebellar hypopl... ORPHA:559
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Pleural ... ORPHA:330001
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome... ORPHA:464329
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy ORPHA:276608
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Abnormal ce... ORPHA:70595
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo... OMIM:619911
Scheie Syndrome
Aortic regurgitation, Cerebral palsy, Splenomegaly, Rhinitis, Spastic paraparesis ORPHA:93474
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Nephroblast... ORPHA:276280
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dyskinesia, Chronic sinu... OMIM:614679
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Apnea, Clonus, Tremor, Neutropenia, Cerebral atrophy, Growth delay, Seizure, Hypopnea, ... OMIM:617248
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Seizure, Syncope, Torsade de pointes, Abnormal T-wave, P... ORPHA:101016
Valinemia
Hyperkinetic movements OMIM:277100
Sialidosis Type 1
Short stature, Ataxia, Tremor, Splenomegaly, Slurred speech, Wide nasal bridge, Seizure, Gait dis... ORPHA:812
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defec... OMIM:614935
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Postnatal growth retardation, Dehydration, Abnormal circulating corticos... ORPHA:556030
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Postnatal grow... OMIM:610198
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Sudde... ORPHA:466722
Pituitary Hormone Deficiency, Combined, 3
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:221750
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Peroneal muscle atrophy,... ORPHA:171617
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tachycardia, Generalized-onset seizure, Hypergonadotropic hypogonad... OMIM:619737
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Ankle clonus, Lethargy, Spasticity ORPHA:247525
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Short stature, Clonus, Infantile spasms, Ataxia, Prominent nose, Anteverted... OMIM:618076
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Depressed nasal bridge, Eczema, Failure to thrive in infancy, Decrease... OMIM:617241
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased... OMIM:173100
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis OMIM:603165
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Facial edema, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:95717
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Peripheral axonal neuropathy, Ataxia, Impulsivity, Spastic tet... ORPHA:35069
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... OMIM:300260
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Spasticity, Respiratory insuffic... OMIM:614299
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171863
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Ciliary Dyskinesia, Primary, 37
Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea OMIM:617577
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Abnormal cerebellum morpholog... OMIM:211530
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Pericardial effusion, Babinski sign, Ga... OMIM:620089
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Seizure, Positive Romberg ... ORPHA:94125
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal fla... ORPHA:90051
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Depression, Dystonia, Lethar... ORPHA:79239
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619175
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia... ORPHA:206436
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology OMIM:611890
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... ORPHA:562
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Short stature, Obesity, Seizure, Hy... ORPHA:251004
Susac Syndrome
Lethargy, Apathy, Upper motor neuron dysfunction, Gait ataxia ORPHA:838
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Intellectual Developmental Disorder, X-Linked 104
Tremor, Seizure, Spasticity, Ataxia OMIM:300983
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Anteverted nares, Underdeveloped nasal alae, Inability to walk, Wide nasal brid... OMIM:616158
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Focal-onset seizure, Hydrocephalus, Optic a... OMIM:618476
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Short stature, Anorexia, Polyhydramnios, Nephrogenic diabetes insipidu... ORPHA:223
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Enamel hypoplasia, Failure to thrive, Iris coloboma OMIM:618874
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Apnea, Febrile status epilepticus, Polyhydramnios, Tonic seizure, Spas... OMIM:612949
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Hyperinsulinemia, Dehydration, Syncope, Orthostat... ORPHA:230
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Serotonin Syndrome
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Tachypnea, Seizure, Hypertension, Hypertonia... ORPHA:43116
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonis... OMIM:614298
Hurler Syndrome
Cerebral palsy, Angina pectoris, Short stature, Anteverted nares, Depressed nasal bridge, Abnorma... ORPHA:93473
Wolcott-Rallison Syndrome
Short stature, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Dehydration, Central hy... ORPHA:1667
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Nephrogenic diabetes insipidus, Hypertonic dehydration, Seizure, Polydipsia, Failu... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypertonic dehydration, Seizure, Polydipsia, Failure to thrive, Diabetes insipidus OMIM:304800
Posttransplant Acute Limbic Encephalitis
Seizure, Ataxia, Myoclonus, Dystonia ORPHA:163921
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating corticosterone level, Decreased circulating aldost... OMIM:610600
Fatal Familial Insomnia
Apnea, Ataxia, Weight loss, Myoclonus, Dysphagia, Neuronal loss in central nervous system OMIM:600072
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Diabetes mellitus, Rigidity, Opisthotonus, Hypertensio... OMIM:184850
Alg12-Cdg
Wide nose, Decreased serum insulin-like growth factor 1, Prominent nasal bridge, Edema, Polyhydra... ORPHA:79324
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Ataxia, Neonatal insulin-dependent diabetes mellitus, Hypovolemia... ORPHA:99885
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Harlequin Ichthyosis
Sudden cardiac death, Depressed nasal ridge, Respiratory insufficiency, Dehydration, Self-injurio... ORPHA:457
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Sinus bradycardia, An... OMIM:618397
Filippi Syndrome
Cerebellar atrophy, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Wide... OMIM:272440
Optic Atrophy 11
Hyperactivity, Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrop... OMIM:617302
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Lower limb muscle weakness, Degeneration of the lateral corticospi... ORPHA:100989
Autoimmune Hypoparathyroidism
Prolonged QT interval, Autoimmune hypoparathyroidism, Dyspnea, Chronic mucocutaneous candidiasis,... ORPHA:36913
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Generalized-onset seizure ORPHA:459074
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Upper limb spasticity, Lethargy, Spasticity OMIM:611523
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... OMIM:618160
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Seizure, Mitral regurgitation, Myoclonus... OMIM:619167
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Growth delay, Increased circulating renin level, Hypotension, Failure to thrive, Dec... OMIM:203400
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Cerebral atrophy, Myoclonic seizu... OMIM:614946
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De... OMIM:618300
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Seizure, Myoclonus, Dysphagia, Gene... ORPHA:93399
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Small for gestational age, Infantile spasms, Spastic tetraparesis, Cere... OMIM:614261
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ... ORPHA:2377
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... ORPHA:280210
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... ORPHA:180229
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Atrophy/Degenera... OMIM:607459
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Respiratory distress, Epileptic spasm, Hypoventilation, Bilateral tonic-clonic se... ORPHA:314655
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Bilateral tonic-clonic s... OMIM:618426
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... OMIM:612020
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Asthma, Angioedema, Presyncope, Recurrent otitis media, Hashimoto thyroiditis OMIM:614468
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Hypertonia, Hyperkinetic movements OMIM:236270
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Hyperekplexia 1
Exaggerated startle response, Apnea, Seizure, Hypertonia, Myoclonus, Aspiration, Frequent falls, ... OMIM:149400
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Hereditary Methemoglobinemia
Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici... ORPHA:621
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Dpm1-Cdg
Cerebellar atrophy, Early onset absence seizures, Ataxia, Seizure, Pontocerebellar atrophy, Abnor... ORPHA:79322
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Trisomy 20P
Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism,... ORPHA:261318
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Short stature, Loss of ability to walk in early childhood, Infantile s... OMIM:612073
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... OMIM:608836
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Thr... ORPHA:94093
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dilated cardiomyopathy, Tetraplegia, Seizure, Bradycardia, ... OMIM:610768
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Myocarditis, Peritonitis, Leukocytosis, Thromb... ORPHA:810
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hypoplasia of the musculature, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Cer... OMIM:225790
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Status ... ORPHA:276575
Immunodeficiency 42
Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recurrent aphthous... OMIM:616622
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Impaired vi... OMIM:616795
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Abnormal mitral valve morphology, Anemia ORPHA:1192
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor OMIM:610185
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto... OMIM:261640
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuf... OMIM:168601
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger ORPHA:776
Scorpion Envenomation
Bundle branch block, Edema, Tremor, Tachypnea, Prominent U wave, Hemifacial spasm, Ataxia, Seizur... ORPHA:466677
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Ataxia, Truncal titubation, Un... OMIM:609270
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Infantile spasms, Pulmonary embolism, Megaloblastic anemia, Atrophy... ORPHA:79282
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Skin ras... ORPHA:125
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Inability to walk, Cerebral atrophy, Hyperkinetic movements, Dysphagia OMIM:618374
Netherton Syndrome
Short stature, Eczema, Skin rash, Asthma, Dehydration, Seizure, Erythroderma, Emphysema ORPHA:634
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Respiratory insufficiency, Opisthot... OMIM:605711
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re... OMIM:200995
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Photosensitive tonic-clonic seizure, Long nose... OMIM:300243
Pediatric-Onset Graves Disease
Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine ... ORPHA:525731
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... ORPHA:139480
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Abnormal brainstem morphology, Atrophy/Deg... ORPHA:99852
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Abnormal pyramidal sign, Ataxia OMIM:618228
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276580
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Clonic seizure, Myoclonic seizure, Gait ataxia, Choreoathetosis, Opisthotonus, Abnormal re... OMIM:619580
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Hypoglycemic seizures, Syncope, Status epilepticus, Palpi... ORPHA:276556
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Spasticity OMIM:609260
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Arachnoid Cyst
Back pain, Cranial nerve compression, Holoprosencephaly, Sciatica, Lower limb muscle weakness, En... ORPHA:2356
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Nasal polyposis, Productive cough, Asplenia, Wheezing, Bronchiecta... ORPHA:244
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ... ORPHA:99949
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Babinski sign, Ataxia, Dystonia OMIM:618226
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Spasti... ORPHA:391428
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... ORPHA:100024
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Congenital Sialidosis Type 2
Abnormal EKG, Ataxia, Edema, Dysmetria, Telangiectasia, Hepatosplenomegaly, Seizure, Myoclonus, S... ORPHA:93400
Fragile X Syndrome
Macroorchidism ORPHA:908
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Anteverted nares, Eczema, ... OMIM:617751
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Generalized-onset seizure, Anorexia, Tremor, Tongue fascicula... ORPHA:297
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, H... OMIM:264350
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Diabetes insipidus, Adrenal hypo... ORPHA:95496
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Cerebral atrophy, Congenital hypothyroidism OMIM:619609
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, O... ORPHA:791
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Contractures of the large joints, Cardiomegaly ORPHA:324410
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... ORPHA:79351
D-Glyceric Aciduria
Chorea, Seizure, Myoclonus, Brain atrophy, Spasticity ORPHA:941
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Gastritis, Congestive hea... ORPHA:31826
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Tremor, Thrombocytopenia, Dehydration, Seizure, Neutropenia, ... OMIM:251100
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Lissencephaly 2
Hypoplasia of the pons, Generalized-onset seizure, Cerebellar hypoplasia OMIM:257320
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Riboflavin Deficiency
Lethargy OMIM:615026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Tubulointerstitial neph... OMIM:251000
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Fl... OMIM:609033
Melas
Wolff-Parkinson-White syndrome, Hypothyroidism, Hypoparathyroidism, Abnormal central motor functi... ORPHA:550
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Primary amenorrhe... OMIM:612526
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Limb fasciculations, Somatic sensory dysfunction, Distal sensory impairment ORPHA:90117
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Generalized-onset seizure, Cerebellar vermis hypoplasia, Ataxia, Promin... ORPHA:357058
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Facial edema, Decreased circ... ORPHA:90674
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Abnormal brain... ORPHA:300573
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Necrotizing Enterocolitis
Shock, Apnea, Small for gestational age, Edema, Peritonitis, Leukocytosis, Bradycardia, Hypotensi... ORPHA:391673
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Pr... ORPHA:329308
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Neutropenia,... ORPHA:699
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Large for gestational age, Elevated circulating thy... ORPHA:226313
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of... OMIM:615300
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Keratoconjunctivitis sicca, Abnormality o... ORPHA:79128
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Microtriplication 11Q24.1
Speech apraxia, Wide nose, Short stature, Obesity, Retrocerebellar cyst, Seizure, Hyperkinetic mo... ORPHA:289522
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Depressed nasal bridge, Infantile spasms, Tonic seizure, Broad na... OMIM:619777
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Pericardial effusion, Normochromic anemi... OMIM:618775
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Spasticity OMIM:603896
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia... ORPHA:171695
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Secondary Syringomyelia
Back pain, Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Parap... ORPHA:99857
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Uveitis, Dehydration, Leukopenia, Abnormal lymphocyte morphology, ... ORPHA:99826
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, G... OMIM:300912
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Anosmia, Bronchiectasis, Immotile cilia, Chronic rhinitis, ... OMIM:244400
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati... OMIM:608022
Cholera
Tachycardia, Tachypnea, Dehydration, Seizure, Hypovolemic shock, Hypotension, Aspiration pneumoni... ORPHA:173
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating reni... OMIM:177735
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Hypoventilation, Failure to thrive, Ataxia, Par... OMIM:203700
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Developmental And Epileptic Encephalopathy 41
Lethargy, Spasticity, Babinski sign, Tetraparesis OMIM:617105
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Clonus, Hypoglycemic seizures, Hypertonia, Abnormal EKG, Ataxia, Seizure, Compensated hypothyroid... ORPHA:480864
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, H... OMIM:614153
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Palpebral edema, Cryptorchidism, Seizure, Hypoplasia of the thymus, Intrauterine growth re... OMIM:214110
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Impaired pain sensation ORPHA:99014
Farber Disease
Respiratory distress, Failure to thrive, Short stature, Infantile spasms, Paraparesis, Thrombocyt... ORPHA:333
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Failure to thrive, Splenomegaly, Nephrocalcinosis, Renal Fanco... OMIM:276700
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Immunodeficiency 9
Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Recurrent aphthous st... OMIM:612782
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Asthma, Failure to t... OMIM:612714
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Truncal ataxia ORPHA:98764
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Flexion con... ORPHA:505248
Secondary Short Bowel Syndrome
Enterocolitis, Dehydration, Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroi... ORPHA:95427
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancre... OMIM:130650
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Infantile spasms, Action tremor, Inability to walk, Chorea, Oculomotor apraxi... ORPHA:404454
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Failure to thrive, Dehydration, Weight loss OMIM:143880
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Hand muscle weakness, Sp... ORPHA:320355
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyl... OMIM:230650
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Abnormal synaptic transmis... ORPHA:1320
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Eczema, Asthma, Seiz... OMIM:618162
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitatio... ORPHA:803
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Edema, Dehydration ORPHA:103910
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... OMIM:610042
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Encephalitis Lethargica
Parkinsonism, Tremor, Seizure, Bradycardia, Hyperventilation ORPHA:83600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Failure to thrive, Dehydration OMIM:251120
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Umbi... OMIM:618188
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... OMIM:617798
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Abnormal myelination ORPHA:85179
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-on... ORPHA:324575
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Optic atrophy, Retinal degeneration, Reduced sperm motility OMIM:602271
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Cerebral at... OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chronic axonal neuropathy, Periphe... OMIM:606002
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma ORPHA:363741
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure OMIM:603472
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Aggressive behavior, Abnormal brainst... ORPHA:83597
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Resp... OMIM:620327
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Foot dorsiflexor weakness, Seizure, Oculomotor apraxia, Cerebellar atrophy, Spastic te... ORPHA:171629
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Depre... OMIM:128100
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dystonia, Spasticity ORPHA:542310
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Postnatal growth retardation, P... OMIM:620242
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Acitretin/Etretinate Embryopathy
Anteverted nares, Hypoplastic nasal septum, Hypoplasia of the thymus, Third degree atrioventricul... ORPHA:40366
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Acroparesthesia ORPHA:101030
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Spasticity, Gait ataxia, Clumsiness, Seizure,... ORPHA:309256
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... ORPHA:99827
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Hypoplasia of the pons, Rigid... ORPHA:98760
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Degcags Syndrome
Polyhydramnios, Prominent nose, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron... OMIM:619488
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Ataxia,... OMIM:617799
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Anteverted nares, Infantile spasms, Inability to ... OMIM:300672
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Neonatal asphyxia, Asthma, Erythroderma OMIM:608649
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Pseudopapilledema, Tetraparesis ORPHA:140989
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:227510
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Cataract, Childhood-onset truncal obesity OMIM:610156
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abno... ORPHA:447753
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Clonus, Premature thelarche, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait ataxia, Hyp... OMIM:616878
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Dehydration OMIM:602722
Oromandibular Dystonia
Respiratory distress, Limb dystonia, Torticollis, Generalized dystonia, Abnormality of the nose, ... ORPHA:93958
Neuroblastoma, Susceptibility To, 1
Ataxia, Weight loss, Hypertension, Myoclonus, Failure to thrive, Anemia OMIM:256700
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Splenomegaly, Flexion contracture, Umbilical hern... ORPHA:87876
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Prominent nasal bridge, Supernumerary nipple, Bulbous nos... ORPHA:247262
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria OMIM:204000
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Spasticity, Ataxia ORPHA:2394
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology ORPHA:52430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... ORPHA:500095
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Tremor, Inabi... OMIM:615356
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Ob... ORPHA:3085
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Poliomyelitis
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Anorexia, Paralysis, Parapares... ORPHA:2912
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, ... ORPHA:94090
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Cystathioninuria
Tremor, Seizure ORPHA:212
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Combined Oxidative Phosphorylation Deficiency 11
Polyhydramnios, Seizure, Respiratory failure, Cardiomyopathy, Myoclonus, Tongue fasciculations, C... OMIM:614922
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Dend Syndrome
Anteverted nares, Elevated hemoglobin A1c, Dehydration, Seizure, Short nose ORPHA:79134
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Recurrent pneumonia, Hyper... OMIM:613327
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of e... ORPHA:289494
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma OMIM:601794
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Bohring-Opitz Syndrome
Short stature, Apnea, Anteverted nares, Depressed nasal bridge, Inability to walk, Wide nasal bri... ORPHA:97297
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Polyhydramnios, Wide nasal bridge, Respiratory insufficie... OMIM:620351
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystoni... OMIM:607694
Ataxia-Telangiectasia
Lymphopenia, Ataxia, Tremor, Polycystic ovaries, Gait disturbance, Spasticity, Abnormal testis mo... ORPHA:100
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... ORPHA:116
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 mo... ORPHA:477673
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Maple Syrup Urine Disease
Lethargy, Hypertonia, Ataxia OMIM:248600
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Tremor, Dyspnea, Seizure, Hypertension, Respiratory ... ORPHA:330021
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Abnorma... ORPHA:744
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Wagr Syndrome
Cataract, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacem... ORPHA:893
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Edema, Angioedema, Neuromuscular dyspha... ORPHA:449285
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Facial palsy, Decr... ORPHA:98913
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... OMIM:603552
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Lathosterolosis
Anteverted nares, Bulbous nose, Anisopoikilocytosis, Abnormal platelet morphology, Seizure, Chiar... ORPHA:46059
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... OMIM:615849
Isolated Atp Synthase Deficiency
Ataxia, Spastic paraplegia, Tetraplegia, Dystonia, Lethargy ORPHA:254913
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca... OMIM:232200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Ocul... ORPHA:217253
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Oligomeganephronia
Small for gestational age, Dehydration, Seizure, Hypertension, Polydipsia ORPHA:2260
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism,... OMIM:608978
Unilateral Polymicrogyria
Apnea, Epistaxis, Infantile spasms, Involuntary movements, Focal-onset seizure, Spastic tetrapleg... ORPHA:268943
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Inability to walk, Bulbous nose, Babinski sign, Cerebral atrophy, Seizure, Hype... OMIM:616420
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Dystonia, Bilateral tonic... ORPHA:496641
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dystonia OMIM:168600
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Seizure, Restrictive ventilatory defect, Hyperkinetic movements, Diffic... ORPHA:369847
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
9P13 Microdeletion Syndrome
Anteverted nares, Short stature, Precocious puberty, Wide nasal bridge, Hand tremor, Myoclonus, A... ORPHA:324313
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Babinski sign, Lethargy, Spasticity OMIM:615838
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth r... ORPHA:453533
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Increa... OMIM:618985
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Spinocerebellar tract disease in lower limbs, Corpus callosum atrophy, Increa... OMIM:248500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Epistaxis, Adrenal hyperplasia, Spastic paraplegi... ORPHA:369929
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... OMIM:613280
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis, Hyperlordosis OMIM:614198
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Broad-based gait, Progressive distal muscular atrophy, Facial palsy, Scapular wingin... OMIM:181405
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Generalized non-motor (absence) seizure ORPHA:363686
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Listeriosis
Respiratory distress, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephali... ORPHA:533
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Cryptorchidism... OMIM:612541
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Bulbous nose, Myoclonus, Oculo... ORPHA:2752
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... ORPHA:43
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Proteinuria, Chronic neutropenia, Irregular menstruation, Hepato... ORPHA:79259
Leigh Syndrome
Chorea, Choreoathetosis, Neutropenia, Ataxia, Seizure, Athetosis, Abnormal dentate nucleus morpho... ORPHA:506
Galactokinase Deficiency
Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small fo... ORPHA:79237
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramida... OMIM:618249
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... OMIM:612651
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Multifocal se... ORPHA:572798
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Nephrogenic diabetes insipidus, Dehydration, Fai... OMIM:208085
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia OMIM:168605
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Ataxia OMIM:237300
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Dilated cardiomyopath... ORPHA:79404
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Seizure, Sta... OMIM:619055
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... ORPHA:2388
Lethal Congenital Contracture Syndrome 10
Torticollis, Hydrops fetalis, Hypoplasia of the thymus, Intrauterine growth retardation, Convex n... OMIM:617022
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Hypotension, Dehydration OMIM:620125
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Clonus, Tre... OMIM:619424
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification o... OMIM:252500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy... OMIM:601152
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Anteverted nares, Eczema, Prominent nasal bridge, Cryptorchidism, Low hanging ... ORPHA:500159
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies OMIM:616583
Carnitine Palmitoyl Transferase 1A Deficiency
Hemiplegia/hemiparesis, Lethargy ORPHA:156
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... ORPHA:99956
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generaliz... ORPHA:369837
Tularemia
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngea... ORPHA:3392
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Delayed myelination, Flexion contracture, Optic atrophy, Focal impaired aware... OMIM:616683
Lamellar Ichthyosis
Chronic otitis media, Short stature, Dehydration, Erythroderma ORPHA:313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... OMIM:222300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Neonatal respiratory distress, Apnea, Retinal hemorrha... OMIM:614653
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Apnea, Choanal ... ORPHA:98889
Crome Syndrome
Seizure, Short stature, Cerebellar dysplasia OMIM:218900
Joubert Syndrome 1
Central apnea, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ata... OMIM:213300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Short stature, Depressed nasal bridge, Decreased response to growth hormon... ORPHA:94089
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Short stature, Small for gestational age, Polyhydramnios, Low-to-normal bloo... OMIM:601678
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis, Schistocytos... ORPHA:90038
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Paraplegia ORPHA:927
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Pain insensitivity, Anteverted nares, Involuntary movements, ... OMIM:615273
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Portal hypertension, Cryptorchidism, Anosmia, Spastic tetraplegia, Cerebral ... OMIM:609136
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Cardiores... ORPHA:31824
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Galactose Mutarotase Deficiency
Hepatomegaly, Failure to thrive, Cataract, Cholestasis ORPHA:570422
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Unsteady gait, Cerebral atrophy, Growth delay, ... ORPHA:17
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, D... ORPHA:447997
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Tremor, Cryptorchidism, Spasticity, Abnormal heart morphology, Mic... OMIM:300978
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Weaver Syndrome
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... OMIM:277590
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Anorexia, Elevated cir... ORPHA:97282
Bartter Syndrome, Type 2, Antenatal
Short stature, Small for gestational age, Polyhydramnios, Low-to-normal blood pressure, Dehydrati... OMIM:241200
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:615960
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Spasticity, Clumsiness, Seizure, Progressive ... ORPHA:309263
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Short stature, Depressed nasal bridge, Decreased response to growth hormon... ORPHA:79444
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital d... OMIM:618280
Kinsship Syndrome
Bilateral tonic-clonic seizure, Short stature, Spastic tetraparesis, Focal-onset seizure, Bulbous... OMIM:619297
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Flexion contracture OMIM:309520
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Abnormal social behavior, Obesity ORPHA:444002
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Seizure, Syncope, Palpitations, Arrhythmia... ORPHA:464453
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Peripor... ORPHA:79328
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... ORPHA:411696
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive OMIM:619868
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioact... ORPHA:90673
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Congenital Tufting Enteropathy
Choanal atresia, Dehydration, Weight loss, Arthritis, Punctate keratitis, Failure to thrive ORPHA:92050
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tremor, Tachypnea, Tubulointe... ORPHA:90068
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... OMIM:601186
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascite... ORPHA:834
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Prominent nose, Post... ORPHA:96191
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Dysmetria OMIM:614867
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr... OMIM:615630
Scrub Typhus
Tremor, Lethargy ORPHA:83317
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Opisthotonus OMIM:210200
Insulinoma
Tremor, Lethargy ORPHA:97279
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... OMIM:615501
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Juvenile Nephropathic Cystinosis
Hypovolemia, Dehydration, Growth delay, Seizure, Polydipsia, Failure to thrive, Hypothyroidism ORPHA:411634
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia ORPHA:29822
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
22Q11.2 Deletion Syndrome
Polyhydramnios, Hypoplasia of the thymus, Chronic otitis media, Hypothyroidism, Hypoparathyroidis... ORPHA:567
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Prominent nasal bridge, Bulbous nose, Hypertension, Status epilepticus, Agitation, S... OMIM:613870
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Depressed nasal bridge, Xerostomia, Rhinitis, Hypoplastic nipples OMIM:614941
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia ORPHA:79242
Galactosemia I
Hemolytic anemia, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypo... OMIM:230400
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... OMIM:235200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Renal Hypoplasia
Hypertension, Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen... OMIM:216360
Muckle-Wells Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Nephrotic syndrome, Conjuncti... ORPHA:575
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... OMIM:618278
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... OMIM:254940
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... OMIM:612964
Autosomal Recessive Malignant Osteopetrosis
Apnea, Tremor, Splenomegaly, Lymphadenopathy, Growth delay, Otitis media, Chronic rhinitis, Pulmo... ORPHA:667
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Failure to thri... ORPHA:137675
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Lamb-Shaffer Syndrome
Seizure, Abnormal social behavior, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni... OMIM:214700
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
East Syndrome
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Inability to walk, Seizure, Difficulty wal... ORPHA:199343
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flex... OMIM:618440
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... ORPHA:478
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Renal insufficiency, Pancytopenia, Cataract, Hypoplasia of penis, Cryptorchidism, ... ORPHA:85321
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... ORPHA:400
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus, Anemia OMIM:246450
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Lethargy, Dystonia OMIM:277410
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Spasticity, Clumsiness, Seizure, Prog... ORPHA:309271
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgr... ORPHA:508
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Foix-Alajouanine Syndrome
Back pain, Low back pain, Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dys... ORPHA:79093
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm... ORPHA:64744
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, O... OMIM:615986
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, A... OMIM:557000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Hyperton... OMIM:617710
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, S... OMIM:614376
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Lipodystrophy, Lipoat... ORPHA:2348
Evans Syndrome
Lethargy ORPHA:1959
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Paraplegia, Leukop... OMIM:617053
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Delayed CNS myelination, Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Shor... OMIM:300232
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Ri... ORPHA:48818
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive... OMIM:251110
Müllerian Aplasia And Hyperandrogenism
Short stature, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ... ORPHA:247768
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuol... ORPHA:275761
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Dehydration OMIM:615453
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Clonus, Dehydration, Periodontitis, Compulsive behaviors, Chronic otitis med... ORPHA:534
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Pontoce... ORPHA:258
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Antev... OMIM:619124
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Renal malrotation, Proteinuria, Lens ... OMIM:120330
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... ORPHA:398079
Medulloblastoma
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... ORPHA:616
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Gm1-Gangliosidosis, Type Ii
Ataxia, Generalized myoclonic seizure, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Hypo... OMIM:230600
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Generalized-onset seizure, Bil... OMIM:620066
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kid... OMIM:306955
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Variegate Porphyria
Paralysis OMIM:176200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Carney Complex
Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenom... ORPHA:1359
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Limb dystonia OMIM:604377
Autosomal Dominant Hypocalcemia
Eczema, Writer's cramp, Congestive heart failure, Paresthesia, Hypotension, Arrhythmia, Abnormal ... ORPHA:428
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hydrocephalus, Optic atrophy, Seizure, Cerebellar hypoplasia, Muscular d... ORPHA:899
Argininemia
Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Progressive s... OMIM:207800
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive,... OMIM:618495
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Lethargy ORPHA:263455
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Hepat... ORPHA:905
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Familial Renal Glucosuria
Elevated hemoglobin A1c, Abnormal circulating insulin concentration, Moderate postnatal growth re... ORPHA:69076
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Bipolar affective disorder, Ataxia, Tremor, Rigidity, Cogwheel rigidity, Gait ata... ORPHA:254892
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Osteogenesis Imperfecta, Type Xv
Hypoplasia of the pons, Platyspondyly, Cerebellar hypoplasia, Scoliosis OMIM:615220
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Scoliosis, Neck muscle h... OMIM:184400
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure, Cerebellar hypoplasia, Cerebellar cyst OMIM:618343
Triploidy
Omphalocele, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancrea... ORPHA:3376
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicu... OMIM:300855
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620126
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, A... OMIM:305100
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis ORPHA:90368
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Abnormal pyramidal sign, Ataxia OMIM:201470
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopath... OMIM:609981
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Paralysis, Respiratory insufficiency due to muscle weakness, Deh... ORPHA:18
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... ORPHA:67045
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P... ORPHA:330012
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Sneddon Syndrome
Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation OMIM:182410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... ORPHA:98915
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Colob... OMIM:610125
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Dehydration, Premature adrenarche, Acne, Short stature, Hyp... ORPHA:90794
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the uterus, Seizure OMIM:614129
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... ORPHA:73224
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ogden Syndrome
Lethargy, Torticollis, Hypertonia ORPHA:276432
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card... OMIM:105210
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Precocious puberty, Unilateral renal hypoplasia, Macroorchid... OMIM:619950
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, A... OMIM:219700
Aspartylglucosaminuria
Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Hernia, Neutropenia, Macr... OMIM:208400
Gm1 Gangliosidosis
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Camptodactyly of finger, Hyperlord... ORPHA:354
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... ORPHA:217260
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Sho... OMIM:188400
Syndromic Diarrhea
Aortic regurgitation, Short stature, Gastritis, Small for gestational age, Increased mean platele... ORPHA:84064
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal g... ORPHA:75249
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaun... ORPHA:309854
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Inguinal hernia, Cataract ORPHA:1069
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Seizure, Restrictive ventilatory defect, Asp... OMIM:619482
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Osteootohepatoenteric Syndrome
Asthma, Dehydration, Weight loss, Failure to thrive, Anemia OMIM:619377
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality... ORPHA:1133
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepat... OMIM:242700
Wiedemann-Rautenstrauch Syndrome
Short stature, Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Pneumonia, Narrow no... OMIM:264090
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Sho... OMIM:620369
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Periodic paralysis, Weight loss, Palpitations, Goiter OMIM:188580
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia ORPHA:79254
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... ORPHA:75389
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Macroorchidism, Umbilical he... ORPHA:93
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, A... ORPHA:68
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmia, Hematemesis, Leu... ORPHA:99829
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Falls ORPHA:683
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... ORPHA:59303
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Cerebral Cavernous Malformations 3
Seizure, Paralysis OMIM:603285
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Dysmenorrhea, Splenomega... ORPHA:79083
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h... OMIM:240300
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Opacification of the corneal... OMIM:251290
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Aspiration pneumonia, Hypothyroidism, Hypoventilation, Short stature, Abnormality of the e... ORPHA:438213
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... OMIM:619183
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Seizure,... OMIM:252150
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Cerebral palsy, Opisthotonus OMIM:210210
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Thalidomide Embryopathy
Short stature, Chronic rhinitis ORPHA:3312
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Short nose, Seizure, Cereb... OMIM:617822
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, Fatty replacement of skeletal muscle, Vocal cord par... ORPHA:397744
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenom... OMIM:602450
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... OMIM:613986
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Seizure, Abnormal myelination, Intrauterine growth retardation OMIM:617333
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morpholo... ORPHA:1655
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia ORPHA:2169
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Progressi... ORPHA:415
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul... OMIM:601992
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria ORPHA:309288
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to... ORPHA:264675
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Cystinosis, Nephropathic
Diabetes mellitus, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spleno... OMIM:219800
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Periorbital edema, Recurrent pneumonia, Wide nasal bridge, ... OMIM:613177
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Clumsiness, Hypertension, Hyperactive ren... ORPHA:89938
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Dysdiadochokinesis... OMIM:617675
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Flexion contracture, Optic atrophy, Developmental catara... OMIM:614225
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Citrullinemia Type Ii
Tremor, Lethargy, Mania ORPHA:247585
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Sialuria
Upper airway obstruction, Wide nasal bridge, Hepatosplenomegaly, Seizure, Hyperkinetic movements,... ORPHA:3166
Microphthalmia, Lenz Type
Cataract, Hypospadias, Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchi... ORPHA:568
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Gracile Bone Dysplasia
Asplenia, Micropenis, Hypoplastic spleen OMIM:602361
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Severe short stature, Eczema, Prominent nasal bridge, Olivopontocerebellar hy... ORPHA:468631
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Failure to ... OMIM:308940
Holocarboxylase Synthetase Deficiency
Lethargy, Hypertonia OMIM:253270
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... OMIM:261990
X-Linked Intellectual Disability, Snyder Type
Short stature, Involuntary movements, Anteverted nares, Prominent nasal bridge, Inability to walk... ORPHA:3063
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Portal hyperten... ORPHA:1454
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Short stature, Exte... ORPHA:398069
Microvillus Inclusion Disease
Hypovolemia, Dehydration ORPHA:2290
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Dehydration, Growth delay, Polydipsia, Failure to thrive ORPHA:411629
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Supernumerary nipple... OMIM:312870
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Developmental g... OMIM:610199
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... OMIM:234200
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Abnormal cortical gyration, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive R... ORPHA:314647
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Shoulder muscle hypop... ORPHA:1826
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Brushfield spots, Cryptor... OMIM:614866
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic an... ORPHA:77297
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Hypovolemia, Dehydration, Growth delay, Polydip... ORPHA:47159
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
X-Linked Intellectual Disability, Seemanova Type
Seizure, Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy ORPHA:85323
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Wide nasal bridge, Myoclonus ORPHA:1352
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Abnormal myelination, Skeletal muscle atrophy, D... ORPHA:90324
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy OMIM:247410
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Spina bifida, Fle... ORPHA:2671
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Treacher-Collins Syndrome
Choanal atresia, Cryptorchidism, Wide nasal bridge, Respiratory insufficiency, Blepharospasm, Abn... ORPHA:861
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... OMIM:212550
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Heparan sulfate excretio... OMIM:607015
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... ORPHA:466943
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... OMIM:620161
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath... OMIM:617591
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Thrombocytopenia, Mi... OMIM:606003
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Azoospermia, Seizure, Hypogo... ORPHA:96263
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adre... ORPHA:1435
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Short stature, Allergic rhinitis, Small for gestational age, Allergic conjunct... OMIM:176690
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Hydrocephalus, Abnormal brainstem morphology, Seizure, Hypertonia, Aplasia/Hypoplasia of ... ORPHA:2720
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation, ... ORPHA:53721
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephr... ORPHA:39041
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Paralysis, Focal-onset seizure, Status epilepticus, Abnormal autonomic... ORPHA:83601
Chops Syndrome
Cataract, Splenomegaly, Cryptorchidism, Optic atrophy, Obesity, Horseshoe kidney, Vesicoureteral ... OMIM:616368
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thro... OMIM:278000
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, S... ORPHA:26793
Orofaciodigital Syndrome Iii
Bulbous nose, Myoclonus OMIM:258850
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... OMIM:615512
Dengue Fever
Lethargy ORPHA:99828
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Transcobalamin Ii Deficiency
Lethargy, Ataxia OMIM:275350
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Young-Onset Parkinson Disease
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia, Spasticity ORPHA:2828
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, Hypogonadism, Cholelithiasis ORPHA:79095
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of th... ORPHA:436252
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Frequent falls, Babinski sign ORPHA:746
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Failure to thrive, Crack... ORPHA:1329
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... ORPHA:564
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Meningococcal Meningitis
Lethargy ORPHA:33475
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Seizure, A... ORPHA:25
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Werner Syndrome
Abnormality of retinal pigmentation, Renal neoplasm, Cataract, Lipodystrophy, Lipoatrophy, Decrea... ORPHA:902
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Spastic tetraparesis, Underdeveloped nasal alae, Postnatal growth retardatio... ORPHA:435628
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Obesity, Aniridia, Nephroblast... OMIM:612469
Porphyria, Acute Intermittent
Tachycardia, Paralysis, Seizure, Hypertension, Respiratory paralysis, Paresthesia OMIM:176000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Camptodactyly of fin... OMIM:602782
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Pedal edema, Sinus bradycardia OMIM:126320
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Impulsivity, Unilateral vocal cord paralysis, Cerebral atrophy... OMIM:301030
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... OMIM:619476
Eec Syndrome
Short stature, Choanal atresia, Decreased response to growth hormone stimulation test, Keratitis,... ORPHA:1896
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Limb hypertonia OMIM:620306
Bartter Syndrome, Type 3
Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating reni... OMIM:607364
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Pontocerebellar Hypoplasia Type 7
Depressed nasal bridge, Involuntary movements, Olivopontocerebellar hypoplasia, Cryptorchidism, W... ORPHA:284339
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Skin ra... OMIM:102700
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Vocal cord paralysis, Glomus jugular tumor, Adrenal p... OMIM:605373
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Lethargy, Ataxia OMIM:311250
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a... OMIM:617913
Trichinellosis
Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy ORPHA:863
Hydroxykynureninuria
Tachycardia, Breathing dysregulation, Hypertonia, Hypotension, Stomatitis, Abnormal repetitive ma... ORPHA:79155
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Intermittent claudic... OMIM:259900
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ... OMIM:617388
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ach... OMIM:613812
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... OMIM:613179
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ... OMIM:619665
Solitary Bone Cyst
Back pain, Abnormal spinal cord morphology, Muscular edema, Abnormal form of the vertebral bodies ORPHA:83468
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th... ORPHA:83471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati... ORPHA:264580
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... ORPHA:93314
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Biotinidase Deficiency
Lethargy, Ataxia OMIM:253260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Platyspondyly, Cerebellar hypoplasia ORPHA:163966
Citrullinemia, Classic
Lethargy, Ataxia OMIM:215700
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Monosomy 18Q
Kyphoscoliosis, Hydrocephalus, Poor coordination, Choreoathetosis, Seizure, Cerebellar hypoplasia... ORPHA:1600
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Lethargy, Abnormality of extrapyramidal motor function OMIM:277400
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Optic disc pallor, Communicating hydrocephalus, Ataxia, Facial hypotonia, Sho... ORPHA:309282
Cog2-Cdg
Small pituitary gland ORPHA:435934
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Broad-based gai... OMIM:620330
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2461
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:608594
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration OMIM:272200
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Incoordination OMIM:277380
Seckel Syndrome 7
Hypoplasia of the uterus, Seizure, Primary amenorrhea OMIM:614851
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Amelogenes... ORPHA:169090
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... OMIM:214500
Cirrhosis, Familial
Lethargy OMIM:215600
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Fraser Syndrome 2
Wide nose, Underdeveloped nasal alae, Respiratory failure, Hypoplasia of the thymus, Oligohydramnios OMIM:617666
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Prominent nasal tip, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, ... ORPHA:522077
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... OMIM:269700
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Cockayne Syndrome A
Micropenis, Loss of facial adipose tissue, Hepatomegaly, Retinal atrophy, Retinal pigment epithel... OMIM:216400
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Hyper... ORPHA:268261
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Multifocal epileptiform discharges, Focal motor seizure, EEG abnormality, Seiz... ORPHA:1675
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ... ORPHA:3384
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized... ORPHA:2072
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Subcortical cere... ORPHA:2463
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Lentiglobus, Retinal degeneration, Hepatomegaly, Re... ORPHA:191
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Mucopolysaccharidosis Type 7
Inguinal hernia, Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria, Umbilical herni... ORPHA:584
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal cerebellum morphology, Ataxia, Generalized non-motor (absence) seizure, Apraxia ORPHA:77293
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb... OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Myoclonus, Spasticity, Short nasal bridge, ... OMIM:253280
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Dyggve-Melchior-Clausen Disease
Hyperactivity, Spastic tetraparesis, Short neck, Hypoplasia of the odontoid process, Abnormality ... ORPHA:239
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Doors Syndrome
Respiratory distress, Small cerebellar cortex, Adrenal hyperplasia, Bilateral tonic-clonic seizur... ORPHA:79500
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Biotinidase Deficiency
Lethargy, Ataxia, Spastic paraparesis ORPHA:79241
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Cryptorchidism, Seizure, Abnormal social behavior, Slender build ORPHA:93932
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Bulbous nose, Bradycardia, Emphysema, Pulmonary insufficiency, Convex nas... OMIM:614437
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Dark yellow urine, Atretic gallbladder, Splenomegaly, Ja... ORPHA:30391
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:230800
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai... ORPHA:512
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Macular atrophy, Microvesicular hep... OMIM:619418
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Ataxia, Tremor, Cryptorchidism, Neonatal death, Hypertrophic cardiomyopathy, Intenti... OMIM:614052
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Short stature, Decreased response to growth hormone s... OMIM:618223
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Glioblastoma
Seizure, Paralysis ORPHA:360
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Proteinuria, Small for ge... OMIM:133540
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... ORPHA:139411
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hemiparesis, Lethargy OMIM:620233
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
3Mc Syndrome 2
Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle agenesis, A... OMIM:265050
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Dent Disease
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... ORPHA:1652
Isolated Complex I Deficiency
Lethargy, Ataxia ORPHA:2609
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Argininosuccinic Aciduria
Lethargy, Ataxia OMIM:207900
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Macular degeneration, Vesicoureteral reflux, Lympha... ORPHA:1571
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature, Ankle flexion cont... ORPHA:2020
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Status e... ORPHA:2636
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... ORPHA:167
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Tachycardia, Hyperthyroidism, Small f... OMIM:609152
Familial Hypoaldosteronism
Lethargy ORPHA:427
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki... OMIM:249100
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Rhabdomyolysis, Seizure, Paresthesia, Polydipsia OMIM:263800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis OMIM:608885
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa... OMIM:260920
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Hydranencephaly
Lethargy, Spastic diplegia, Opisthotonus ORPHA:2177
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Tongue fasciculations, Lethargy, Spasticity OMIM:252010
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Tremor, Hemiplegia/hemiparesis, Neonata... ORPHA:51
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Seizure, Typical absence seizure, Impaired pain sensation ORPHA:352665
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Dysphagia ORPHA:684
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Atelis Syndrome 2
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract OMIM:620185
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Increased mean platelet volume, Lymphedema, Postnatal growth retardation, Abn... ORPHA:487796
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:228371
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Tachypnea, Spher... ORPHA:71275
Monosomy 22
Wide nose, Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatospl... ORPHA:96123
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... ORPHA:342
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Corneal scarring, Atypical sca... OMIM:263700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Anterior pituitary dys... ORPHA:227990
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature ORPHA:314621
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Glycine Encephalopathy
Lethargy ORPHA:407
Plague
Respiratory distress, Chapped lip, Anorexia, Edema, Lymphadenitis, Acute infectious pneumonia, In... ORPHA:707
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Seizure, Scoliosis, Periodic hypokalemic par... ORPHA:37553
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Seizure, Subcortical cerebral at... ORPHA:2396
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Chiari malformation, Cerebell... ORPHA:500150
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Congestive heart failu... ORPHA:980
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive OMIM:619151
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Tetraamelia Syndrome 1
Cataract, Renal agenesis, Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Abse... OMIM:273395
Posterior Urethral Valve
Lethargy ORPHA:93110
Late-Onset Isolated Acth Deficiency
Lethargy ORPHA:199299
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Urethral s... OMIM:305000
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Apathy, Retrocollis... OMIM:601104
Semilobar Holoprosencephaly
Abnormal central motor function, Oromotor apraxia, Depression, Apathy, Limb dystonia, Lethargy, S... ORPHA:220386
Alobar Holoprosencephaly
Abnormal central motor function, Oromotor apraxia, Depression, Apathy, Limb dystonia, Lethargy, S... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Oromotor apraxia, Depression, Apathy, Limb dystonia, Lethargy, S... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Oromotor apraxia, Depression, Apathy, Limb dystonia, Lethargy, S... ORPHA:93924
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Polyhydramnios, Cerebral atrophy, Chylothorax OMIM:619036
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Depressed nasal bridge, Short stature, Choanal atresia, Underdeveloped nasal alae,... OMIM:620186
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration, Weight loss ORPHA:3337
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased circulating... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased circulating... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased circulating... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased circulating... ORPHA:881
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Epileptic spasm, Aganglionic megacolon, Kyphoscoliosis, Short neck, Voca... ORPHA:798
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Sotos Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tremor, Poor coordination, Generali... ORPHA:821
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Chiari malformation, Thoracic kyphosis, Bico... OMIM:271510
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Cataract, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Primary am... OMIM:603457
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Weight loss, Nephr... ORPHA:29073
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Simplified gyral pattern, Microlissencephaly OMIM:617914
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261537
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Generalized-onset seizure, Hypospadias, Small for gestational age, Testicular neo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Generalized-onset seizure, Hypospadias, Small for gestational age, Testicular neo... ORPHA:363958
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Mowat-Wilson Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired p... ORPHA:2152
Primary Sjögren Syndrome
Somatic sensory dysfunction, Myositis, Abnormality of the peripheral nervous system, Abnormal cer... ORPHA:289390
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abnormal spermat... ORPHA:3464
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis OMIM:170390
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Mend Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Cryptorchidism, Seizure, Abnormal social ... ORPHA:401973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Rift Valley Fever
Back pain, Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Polycystic ovaries OMIM:615363
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... ORPHA:261552
Cog1-Cdg
Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Wide nasal bridge, Tempor... ORPHA:263508
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, Enlarged lacri... ORPHA:449563
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Dominant Beta-Thalassemia
Hypoplasia of the musculature ORPHA:231226
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Inhalational Botulism
Paralysis ORPHA:254504
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Camptodactyly of finger, Scoliosis ORPHA:1101
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Seizure, Impaired social int... ORPHA:177907
Czech Dysplasia
Waddling gait, Flexion contracture, Irregular vertebral endplates, Platyspondyly, Thoracic kyphos... OMIM:609162
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Seizure, Ovarian cyst, Aplasia of the vagina, Focal impaired awareness seizure, A... OMIM:614527
Isolated Exencephaly
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes ORPHA:563612
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia ORPHA:466650
Beta-Thalassemia Major
Hypoplasia of the musculature ORPHA:231214
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Aplasia of the uterus, Vaginal atresia, Hypocalcemic seizures ORPHA:2237
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the uterus ORPHA:785
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Limb Body Wall Complex
Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Abnormal spinal co... ORPHA:2369
Tetrasomy 9P
Sacral dimple, Hyperactivity, Myositis, Short neck, Abnormal spinal cord morphology, Hydrocephalu... ORPHA:3310
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Micropenis, Hypospadias, Small pituitary gland OMIM:619479
Diamond-Blackfan Anemia
Lethargy ORPHA:124
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Gitelman Syndrome
Salt craving, Paralysis, Focal-onset seizure, Rhabdomyolysis, Paresthesia, Polydipsia ORPHA:358
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... OMIM:202010
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Seizure, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Multiple joint contractures, Short neck, Delayed myelination, Irregular vertebral ... ORPHA:99646
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Seizure, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Wolf-Hirschhorn Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, EEG abnormality, Seiz... OMIM:194190
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Gait ataxia, Seizure, Aplasia of the uterus, Clitoral hypertrophy OMIM:135900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Short neck, Aplasia of the epiglottis, Abnormal myelination, Molar toot... ORPHA:434179
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, Failure to thr... ORPHA:904
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Limb-Mammary Syndrome
Aplasia of the uterus, Primary amenorrhea, Aplasia of the ovary ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome
Seizure, Aplasia of the uterus OMIM:274000
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Bifid uterus, Gray matter heterotopia, Stillbirth, Abnor... OMIM:236680
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Wrinkly Skin Syndrome
Kyphosis, Scapular winging, Hypoplasia of the musculature, Scoliosis OMIM:278250
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Tuberous Sclerosis Complex
Epileptic spasm, Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Abnormal soc... ORPHA:805
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... OMIM:201750
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Stillbirth, Lissencephaly, Neonatal death OMIM:256520
Eisenmenger Syndrome
Lethargy ORPHA:97214
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Inability to walk, Obesity, Hypoplastic labia majora,... OMIM:601803
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... OMIM:619503
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Okamoto Syndrome
Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286

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 Cacna2d2

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 Cacna2d2.

No publications found that use IMPC mice or data for Cacna2d2.

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
Cacna2d2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cacna2d2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cacna2d2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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