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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 Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased spleen weight Cacna2d2em1(IMPC)Mbp HET Early adult 4.99×10-05
cataract Cacna2d2em1(IMPC)Mbp HET Early adult 9.95×10-06
small spleen Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
small seminal vesicle Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal gait Cacna2d2em1(IMPC)Mbp HOM Early adult 3.15×10-06
decreased total body fat amount Cacna2d2em1(IMPC)Mbp HET Early adult 4.92×10-05
abnormal skin morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Cacna2d2em1(IMPC)Mbp HET E18.5 0.00
enlarged kidney Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
increased lean body mass Cacna2d2em1(IMPC)Mbp HET Early adult 6.06×10-06
small heart Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Cacna2d2em1(IMPC)Mbp HOM   Early adult 0.00
tremors Cacna2d2em1(IMPC)Mbp HOM Early adult 3.15×10-06
enlarged testis Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cacna2d2em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Cacna2d2em1(IMPC)Mbp HOM E18.5 0.00
abnormal spleen 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 2.26×10-07
abnormal vitreous body morphology Cacna2d2em1(IMPC)Mbp HET Early adult 8.36×10-06
female infertility Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Cacna2d2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia 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
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... ORPHA:725
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, EEG abnormalit... OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co... OMIM:618587
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... OMIM:617665
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:607208
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... OMIM:614018
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure,... OMIM:620540
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Seizure, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Low... ORPHA:98811
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Myoclonic seizure, Atypical absence seizure, Multifocal epileptiform d... OMIM:618596
Landau-Kleffner Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... ORPHA:98818
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Impaired propri... ORPHA:95434
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m... OMIM:162350
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Myoclonus, Familial, 2
Dystonia, Limb myoclonus, Seizure OMIM:618364
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Tonic seizure, Hypsarr... OMIM:616346
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth... OMIM:616409
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella... ORPHA:101070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Dysphagia, Tip-toe ga... OMIM:302800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor OMIM:615127
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... OMIM:619157
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Seizure, EEG with generalized polyspikes, Ataxia, Generalized myoclonic seizure OMIM:614706
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ... OMIM:616230
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Attention deficit... OMIM:619971
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, EEG... OMIM:271980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... OMIM:617113
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe... OMIM:615957
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Seizure, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Hypoplasia of the pons, Generalized-onset seizure, Infantile spasms, Cerebella... OMIM:618677
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Abnormal cerebellum morp... OMIM:618242
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... OMIM:617771
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Lennox-Gastaut Syndrome
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... ORPHA:2382
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... OMIM:602066
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:610003
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hem... OMIM:616981
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure... OMIM:619606
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a... ORPHA:599373
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Aminoacylase 1 Deficiency
Wide nasal bridge, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Hype... OMIM:609924
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Gait ataxia, My... ORPHA:248111
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Geniospasm 1
Chin myoclonus OMIM:190100
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... OMIM:619028
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Hand muscle atrophy, Distal sensory impairment, Motor ax... ORPHA:98856
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia OMIM:617018
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Recurrent upper respiratory tract infections, Generalized myoclonic s... ORPHA:352596
Olivopontocerebellar Atrophy-Deafness Syndrome
Seizure, Olivopontocerebellar atrophy, EEG abnormality, Hypertonia, Ataxia ORPHA:2732
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo... OMIM:616540
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Impai... OMIM:619742
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Myoclonic seizure, Cerebellar atrophy, Oculogyric crisis, Se... OMIM:614254
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Slender build, Myoclonus, Aggressive behavior, Frontal cortical... OMIM:300699
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Myoclonus, Gait ataxia, Cogwheel rigidity, Trun... OMIM:607346
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, EEG abnormality... OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Tremor OMIM:613608
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to walk, Epileptic spasm,... OMIM:617929
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Bruxism, Anteve... OMIM:618497
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Ataxia OMIM:619191
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... OMIM:208920
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight l... ORPHA:399
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Lingual dyston... OMIM:500003
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal impaired awareness seizure, Seizure, Chorea, Complex febrile seizure... ORPHA:31709
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Myo... OMIM:225753
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Spasticity, Small for gestational age, Seizure, Intrauterine growth re... OMIM:617065
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Failure to thrive, Intrauter... OMIM:620145
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Seizure, Progressive spastic paraparesis, F... ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia, Polyhydramnios OMIM:619303
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... OMIM:617711
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp... OMIM:614487
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Cerebral atrophy, Concentric hypertrophic cardiomyopathy, Abnormal cerebellum morphology... OMIM:204200
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Lethargy, Ataxia, Dystonia OMIM:617829
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Myoclonus, Gait ataxia, Hemipar... OMIM:123400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S... OMIM:619065
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Coenzyme Q10 Deficiency, Primary, 7
Seizure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cerebellar hypoplasia, Bra... OMIM:616276
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang... ORPHA:263516
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... ORPHA:1945
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... OMIM:604484
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, Ataxia, Dys... ORPHA:71277
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensat... ORPHA:99947
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Increased extraneuronal autofluorescent lipopigment... OMIM:204500
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Ce... ORPHA:313772
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Seizure, Cardiomyopathy, Splenomegaly, Pancreatitis, Neutropenia, Anorexia, An... ORPHA:79312
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Seizure, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia OMIM:614023
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-on... ORPHA:561854
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal amplitude of flash visual evoked potentials, EEG with generalized slow activ... ORPHA:168491
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... OMIM:619862
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Delayed CNS myelination,... OMIM:619031
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Developmental And Epileptic Encephalopathy 23
Broad nasal tip, Hypoplasia of the pons, Bulbous nose, Anteverted nares, Infantile spasms, Myoclo... OMIM:615859
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Generalized non-motor (absence) seizure, Inability to walk, Infantile spa... ORPHA:411986
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait ataxia, ... ORPHA:101150
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Developmental And Epileptic Encephalopathy 69
Cerebral cortical atrophy, Inability to walk, Myoclonus, Hyperkinetic movements, Corpus callosum ... OMIM:618285
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Failure to thrive, Cerebral atrophy, Generalized dystonia, Hypertrophic cardiomyopath... OMIM:618235
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... ORPHA:1942
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Cerebral atrophy, Seizure, Myoclonus, Ataxia, Short stature OMIM:612015
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Seizure, Intrauterine growth retardation, Hypertonia, Brady... OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:618224
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick sinus syndrom... OMIM:617182
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... ORPHA:251347
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurr... OMIM:617862
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, F... OMIM:117360
Pontocerebellar Hypoplasia Type 4
Seizure, Myoclonus, Hypertonia, Polyhydramnios, Olivopontocerebellar hypoplasia ORPHA:166063
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Opisthotonus, Neutropenia, Ataxia, Choreoathetosis, Cerebral atrophy, Bulbous nose, H... OMIM:616271
Hsd10 Disease
Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Postnatal growth retardation, Myoc... ORPHA:391417
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Cerebellar atrophy, Failure to thrive, Seizure, Prominent nasal bridge, Myoclo... OMIM:618356
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... ORPHA:3006
Combined Saposin Deficiency
Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Generalized cloni... OMIM:611721
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Fasciculations, Ankle clonus, Hoffmann sign, Babinski sign, Lower limb spasticity, Sp... OMIM:615681
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Small pituit... OMIM:615925
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... OMIM:619616
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Intellectual Developmental Disorder, X-Linked 72
Short stature, Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilep... OMIM:609056
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
X-Linked Progressive Cerebellar Ataxia
Scoliosis, Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Distal lower limb amyot... ORPHA:1175
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Seizure, Foot dorsiflexor weakn... OMIM:617207
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Failure to thrive, Seizure, Ascites, Hypertrophic cardiomyopathy, Intrauterine growth... OMIM:614702
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Myoclonus, Gait ataxia, Cogwheel rigidity, Rigidity,... ORPHA:225154
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Seizure, Cerebral atrophy, Opis... OMIM:619272
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Generalized non-motor (a... ORPHA:35878
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantil... ORPHA:485350
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Nescav Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere... OMIM:614255
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At... ORPHA:363717
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Splenomegaly, Bilateral tonic-clonic seizure ORPHA:139406
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic seizure, Short nose, Status epilepticus, Edema OMIM:617507
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic se... OMIM:615338
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Seizure, Inability to walk, Hypertrophic cardiomyopathy, Myoclonus, Rigidity,... OMIM:618241
Transient Neonatal Diabetes Mellitus
Failure to thrive, Seizure, Maturity-onset diabetes of the young, Intrauterine growth retardation... ORPHA:99886
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia, Facial ... OMIM:616286
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Infantile spasms, Tonic seizure, Unsteady gait, Focal impaired awareness seizure OMIM:617601
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Seizure, Syncope, Ventricular tachycardia, Bradycardia, Polymorphic ventricular tachycardia OMIM:611938
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Cerebellar atroph... ORPHA:98761
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisis, Generalize... ORPHA:208447
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... ORPHA:3095
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Pachygyria OMIM:606053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Morning myoclonic jerks, Bradycardia ORPHA:2898
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Intellectual Developmental Disorder, Autosomal Recessive 64
Spasticity, Seizure, Reduced social reciprocity, Hypertonia, Slurred speech OMIM:618103
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Prominent nose, Cerebellar hypoplasia, Bradycardia, Tr... OMIM:614407
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk... ORPHA:251282
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Myoclo... ORPHA:508093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress... OMIM:183090
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... OMIM:604326
Liang-Wang Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, Ataxia, Dystonia, Status epilepticus OMIM:618729
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Nocturnal seizures,... OMIM:619725
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Spasticity, Involuntary movements, Cerebellar atrophy, Cerebral atrophy,... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Cerebellar edema, Tonic seizure, Bilateral tonic-clonic seizure, Status... OMIM:618924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Tetraparesis, Cardiomyopathy, Leukopenia, Macrocytic anemia, Paraparesis, Pancreatitis, ... ORPHA:27
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Cerebellar hypoplasia, EEG with focal spikes, Seizure, Ataxia OMIM:616917
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (withi... OMIM:618917
Dystonia 12
Depression, Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Seizure, Hypersplenism, Bilateral tonic-clonic seizure with focal ... OMIM:610539
Mannosidosis, Beta A, Lysosomal
Decreased circulating beta-mannosidase activity, Seizure, Reduced beta-mannosidase activity in cu... OMIM:248510
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walk... ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Cerebellar atrophy, Generalized myoclonic seizure, Ataxia OMIM:610951
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Seizure, Hyperactivity, Ataxia OMIM:613402
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Cerebral atrophy, Aspiration pneumonia, Intrauterine growth retardation, My... OMIM:619057
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ... ORPHA:420492
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi... OMIM:159950
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... OMIM:617904
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Parkinsonism, ... ORPHA:909
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617173
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Global brain atrophy, Growth delay, Infantile spasms, Focal-onset ... OMIM:308350
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Generalized non-motor (absence) seizure, St... ORPHA:467166
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... OMIM:608984
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... OMIM:610245
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Seizure, Cerebral atrophy, Difficulty walki... ORPHA:442835
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Alexander Disease
Spasticity, Seizure, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Ataxia, Palat... OMIM:203450
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... ORPHA:101109
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea... OMIM:617600
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Seizure, Myoclonus, Hypertonia, Anemia, Unsteady gait OMIM:610090
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto... ORPHA:13
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Harel-Yoon Syndrome
Spasticity, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inability to walk, Ataxi... OMIM:617183
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Abnormal sensory ne... ORPHA:88628
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Lethargy OMIM:613710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Hemiparesis OMIM:617900
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Seizure, Weight loss, Anorexia, Diabetes insipidus, Dehydration ORPHA:178029
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Noc... ORPHA:98820
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Hyperinsulinemia, M... ORPHA:363400
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski s... OMIM:600795
Huntington Disease-Like 2
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Apathy, Inertia, Dystonia OMIM:606438
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... OMIM:600363
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Hyperto... OMIM:617106
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal ons... OMIM:245570
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, ... ORPHA:216873
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Brain atrophy, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Bil... OMIM:619092
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Bradycardia, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myo... OMIM:614498
Myoclonus, Intractable, Neonatal
Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure, Dandy-Wal... OMIM:617235
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Kufor-Rakeb Syndrome
Spasticity, Distal sensory impairment, Parkinsonism, Paraparesis, Torticollis, Ataxia, Bradykines... OMIM:606693
D-Glyceric Aciduria
Cerebral cortical atrophy, Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Focal clo... OMIM:220120
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Hypogonadism, Myoclonus, Tremor, Hypertension, Aggressive beh... ORPHA:97229
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Lymphedema, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/... ORPHA:79279
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness,... ORPHA:98768
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Focal impaired awareness seizure, Seizure, Infantile spasms, EEG wi... ORPHA:95232
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus, Seizure OMIM:610992
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Epileptic spasm, Prominent nasal bridge,... OMIM:619060
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
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ky... OMIM:604168
Developmental And Epileptic Encephalopathy 28
Spasticity, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic spa... OMIM:616211
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Demyelinating perip... ORPHA:99948
Combined Malonic And Methylmalonic Aciduria
Generalized clonic seizure, Failure to thrive, Dehydration OMIM:614265
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait ORPHA:306511
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Infantile... OMIM:615851
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Spasticity, Seizure, Inability to walk, Reduced social reciprocity, EEG ab... OMIM:617820
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Seizure, Cerebral atrophy, Intrauterine growth retardation, ... ORPHA:565624
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila... ORPHA:352582
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor... OMIM:614895
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Seizure, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Parkin... OMIM:609286
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonus, Abnormal pyr... OMIM:605259
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Cerebral atrophy, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus,... OMIM:256730
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Cereb... OMIM:607250
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Seizure, Generalized clonic seizure, Dystonia, Focal impaired awareness seizur... ORPHA:289504
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Seizure, Decreased nerve conduction velocity, Abnormal motor nerv... OMIM:618404
Adenylosuccinase Deficiency
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Hemiplegia, Inappro... OMIM:103050
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Seizure, Cerebral atrophy, Aspiration pneumonia, Los... ORPHA:79264
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Tetraparesis, Arrhythmia, Abnormal pyramidal sign, Anorexia, Ataxia, F... ORPHA:2131
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unste... OMIM:615768
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Demyelinatin... ORPHA:98
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Decreased number of peripheral myelinated nerve fib... OMIM:606482
Glycine Encephalopathy 1
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Small for gestational age, Cerebellar atrophy, Failure to thrive, Seizure, N... OMIM:214150
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive... OMIM:137440
Hurler-Scheie Syndrome
Cardiomyopathy, Splenomegaly, Abnormal pyramidal sign, Abnormality of the tonsils, Short stature,... ORPHA:93476
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired awareness sei... ORPHA:1947
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Focal impaired awareness seizure, Seizure, Abnormality of somatose... ORPHA:268947
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Myoclonus, Seizure, Dysmetria OMIM:618251
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Thyrocerebrorenal Syndrome
Nephritis, Seizure, Euthyroid goiter, Myoclonus, Thrombocytopenia, Nonprogressive cerebellar atax... ORPHA:3327
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Bulbous nose, Anteverted nares, Myoclonus, Gait ataxia, Dysmetria, Distal sen... OMIM:616505
Chronic Hiccup
Weight loss, Abnormal eating behavior, Dehydration ORPHA:396
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Gait distur... OMIM:618193
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Global brain atrophy, Spinocerebellar tract degeneration, ... ORPHA:94124
Long Qt Syndrome 15
Ventricular bigeminy, Seizure, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Pre... OMIM:616249
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Hydrop... OMIM:618815
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Foot dorsiflexor weakness, Hand muscle atrophy, ... OMIM:618811
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Seizure ORPHA:436151
Paroxysmal Hemicrania
Restless legs, Focal sensory seizure with olfactory features, Palpebral edema, Rhinitis, Hyperten... ORPHA:157835
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Seizure, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dys... OMIM:617854
Muscular Dystrophy, Congenital, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... OMIM:620166
Glossopharyngeal Neuralgia
Seizure, Oral-pharyngeal dysphagia, Chiari type I malformation, Weight loss, Syncope, Vocal cord ... ORPHA:221098
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis OMIM:613002
Lujo Hemorrhagic Fever
Resting tremor, Lymphopenia, Periorbital edema, Cerebral edema, Dysphagia, Shock, Bradycardia, Hy... ORPHA:319213
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Propionic Acidemia
Failure to thrive, Cerebral atrophy, Seizure, Cardiomyopathy, Eczematoid dermatitis, Pancytopenia... OMIM:606054
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Myoclonic absence seizure, Cerebellar atrophy, Seizure, Incoordination, Clonus, Tetra... OMIM:616034
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Spasticity, Continuous spike and waves during slow sleep, Generalized non-mot... OMIM:620149
Nipah Virus Disease
Hypotension, Seizure, Myoclonus, Tremor, Infectious encephalitis, Recurrent pharyngitis, Anorexia ORPHA:99825
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Small for gestational age, Seizure, Febrile seizure (within the ... OMIM:619847
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dysto... ORPHA:254881
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebellum morphology, Abnorm... ORPHA:356
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Decreased response to growth hormone stimulation test, Cerebellar dysplasia, Decreased t... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Hemiplegia, Ventric... ORPHA:1344
Gm1-Gangliosidosis, Type Iii
Seizure, Myoclonus, Splenomegaly, Diffuse cerebral atrophy, Ataxia, Short stature, Dystonia, Slur... OMIM:230650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Demyelinating sensory neuropathy, Limb muscle weakness, Fo... OMIM:618387
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur... ORPHA:544254
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Weight loss, Cl... OMIM:301310
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... ORPHA:314978
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Abnorma... ORPHA:478029
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Focal impaired awareness seizure, Seizure, Chorea, Abnormality o... ORPHA:382
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Alzheimer Disease 3
Cerebral cortical atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dyst... OMIM:607822
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Pulmonary... OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617188
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Cryptorchidism, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, ... OMIM:618060
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Tort... ORPHA:71517
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Babinski sig... OMIM:252011
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormality... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mo... OMIM:620208
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab... ORPHA:401830
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Cerebellar atrophy, Epilepsia partialis ... OMIM:271245
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bilateral tonic-clonic ... OMIM:616281
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinson... OMIM:618877
Basal Ganglia Calcification, Idiopathic, 1
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal ... OMIM:213600
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Seizure, Myoclonus, Opisthotonus, Bradycardia OMIM:619814
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Myoclonus, Seizure, Abnormality of extrapyramidal motor function OMIM:604218
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Early Infantile Epileptic Encephalopathy
Spasticity, Hypsarrhythmia, Choreoathetosis, Generalized non-motor (absence) seizure, Infantile s... ORPHA:1934
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Distal lower limb amyotrophy, A... ORPHA:431329
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... OMIM:617166
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Wide nasal bridge, Small for gestational age, Seizure, Episodic ataxia, Cerebral... OMIM:312170
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Hypo... OMIM:607596
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Hypertrophic cardiomyopathy, Atrophy/Degeneration affecting the brainstem, Bradycardi... OMIM:616277
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Thrombocytopen... OMIM:231000
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Folinic Acid-Responsive Seizures
Broad-based gait, Generalized myoclonic seizure, Cerebellar atrophy, Atonic seizure, Seizure, Dif... ORPHA:79097
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular sp... OMIM:613811
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bilateral tonic-clonic seizure, Foc... OMIM:619854
Lafora Disease
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca... ORPHA:501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Urocanase Deficiency
Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Sandhoff Disease, Juvenile Form
Acroparesthesia, Cerebellar atrophy, Seizure, Fasciculations, Incoordination, Cerebral atrophy, F... ORPHA:309162
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Seizure, Axonal degeneration... OMIM:616811
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Dystonia OMIM:620094
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Cerebellar hypoplasia, Absence seizure with eyelid myocl... OMIM:613839
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,... OMIM:617282
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Weight loss, Anemia, ... ORPHA:33355
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Focal impaired awareness seizure, Aplasia/Hypoplasia of the cerebellar vermis, Intention tremor, ... ORPHA:137831
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Seizure, Myoclonus, Babinsk... OMIM:620538
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Torticollis, Writer's cramp, Dystonia OMIM:619724
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Rasmussen Subacute Encephalitis
Hemidystonia, Hemiparesis, Bilateral tonic-clonic seizure with generalized onset, Focal motor sei... ORPHA:1929
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Sudden Cardiac Failure, Infantile
Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden ... OMIM:617222
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower l... ORPHA:99013
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Central Neurocytoma
Babinski sign, Lethargy, Depression, Ataxia ORPHA:73256
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic seizure, Focal moto... ORPHA:99802
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Depression, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:240085
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Growth delay, Chorea, Action tremor, Tremor, Hyperkinet... OMIM:619738
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Lymphadenopa... ORPHA:507
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in... ORPHA:171876
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Cerebellar hypoplasia, Hypsarrhythmia, Bilateral tonic-cl... OMIM:226750
Beta-Ketothiolase Deficiency
Spasticity, Hypotension, Edema, Seizure, Dehydration, Anorexia, Thrombocytosis, Leukocytosis, Agi... ORPHA:134
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Lim... ORPHA:284289
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Focal impaired awareness seizure, Seizure, Bradykinesia, Cerebell... OMIM:617435
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Dysphagia, C... OMIM:312080
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegenera... OMIM:612319
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Tetraplegia, Hypertonia OMIM:274270
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Limb muscle weakness, Cer... ORPHA:363722
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Seizure, Cerebral atrophy, Neurodegeneration, Generalized dystonia, Chore... OMIM:618321
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Seizure OMIM:604213
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Athetosis, Dysphagia OMIM:300857
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Narp Syndrome
Cerebral cortical atrophy, Seizure, Progressive gait ataxia, Babinski sign, Myoclonic spasms, Ata... ORPHA:644
Morm Syndrome
Cataract, Retinal atrophy, Truncal obesity, Abnormality of the kidney, Micropenis ORPHA:75858
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Failure to thrive, Pustule, Polyhydramnios, Hypertension, Dehydration OMIM:616069
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Lower limb spas... ORPHA:100988
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Brain atrophy, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hyper... OMIM:617290
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle ... OMIM:618201
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere... ORPHA:529665
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation... ORPHA:66529
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Rigidity, Parkinsonism, Apathy, Bradykinesia ORPHA:306692
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Optic atrophy, Cerebella... OMIM:619686
Neuraminidase Deficiency
Facial edema, Seizure, Cardiomyopathy, Ascites, Bone-marrow foam cells, Myoclonus, Splenomegaly, ... OMIM:256550
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Intention tremor, Action tremor, Abnormality of extrapyramidal motor function OMIM:302500
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Dysmetria, Lethargy, Abnormal pyramidal sign... OMIM:238970
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Depressed nasal bridge, Seizure, Failure to thrive in infancy, Epil... ORPHA:284417
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysphagia OMIM:619780
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec... ORPHA:90695
Spastic Paraplegia 7, Autosomal Recessive
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:607259
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Inappropriate behavior, Seizure, Cerebral atrophy, Abnormal upper motor neuron morpho... OMIM:221770
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:254210
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Anasarca, Generalized-onset seizure, Postural tremor, Myoclonus, Gait ataxia,... OMIM:254900
Spinocerebellar Ataxia Type 1
Bradykinesia, Dysphagia, Progressive cerebellar ataxia, Slurred speech, Abnormal brainstem morpho... ORPHA:98755
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:98795
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplas... ORPHA:352682
Combined Oxidative Phosphorylation Deficiency 57
Cerebral atrophy, Seizure, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyop... OMIM:620167
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Small for gestational age, Recurrent upper respiratory tract infections, Seizure, Dil... ORPHA:3078
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Bilatera... OMIM:614559
Peho Syndrome
Cerebellar atrophy, Seizure, Myoclonus, Edema of the dorsum of hands, Neuronal loss in central ne... OMIM:260565
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Seizure, Progressive extrapyramidal mu... ORPHA:282166
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Seizure, Hypertrophic cardiomyopathy, Pancytopenia, Myoclonus, Tremor, Loss o... OMIM:607426
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Spasticity, Infection associated neutropenia, Cerebellar atrophy, Se... ORPHA:445038
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Tay-Sachs Disease
Aspiration pneumonia, Incoordination, Dysphagia, Poor fine motor coordination, Precocious puberty... ORPHA:845
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Basal Ganglia Calcification, Idiopathic, 5
Depression, Hand tremor, Postural tremor, Chorea, Parkinsonism, Apathy, Athetosis OMIM:615483
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Babinski s... ORPHA:204
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Congestive heart failure, Intrauterine growth retardation, Bradycardia, Brain ... OMIM:619048
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Spastic... ORPHA:401866
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Apathy ORPHA:178509
Paroxysmal Extreme Pain Disorder
Tachycardia, Impaired pain sensation, Bradycardia OMIM:167400
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia, Brain atrophy OMIM:618225
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure,... OMIM:619835
Syringomyelia, Noncommunicating Isolated
Enlarged sagittal diameter of the cervical canal, Paresthesia, Gait ataxia, Limb muscle weakness,... OMIM:186700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Gait ... ORPHA:572
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Seizure, Tremor OMIM:619561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Hyperekplexia 4
Cerebral atrophy, Seizure, Infantile spasms, Myoclonus, Hypertonia OMIM:618011
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Myoclonic seizure,... ORPHA:544469
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
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
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Failure to thrive, Myoclonus, Ataxia, Dehydration OMIM:560000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Dystonia, Hypertonia ORPHA:26792
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia OMIM:278780
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Progressive ce... OMIM:618412
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Aggressiv... OMIM:618369
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, Rhinitis, B lymphocytope... ORPHA:70593
Severe Canavan Disease
Babinski sign, Spasticity, Lethargy, Decerebrate rigidity ORPHA:314911
Adult Krabbe Disease
Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Peripheral demyelination,... ORPHA:206448
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276241
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Hypotension, Dilated cardiomyopathy, Seizure, Dehydration, Anorexia, Leukopenia, Thro... ORPHA:20
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Frequent falls, Cerebellar vermis a... OMIM:210000
Immunodeficiency 102
Recurrent upper respiratory tract infections, Reduced natural killer cell count, Increased propor... OMIM:301082
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Gait ataxia, Distal sensory imp... OMIM:617225
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Seizure, Slender build, Myoclonus, ... ORPHA:364028
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Seizure, Chorea, EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus,... OMIM:613970
Whipple Disease
Cachexia, Abnormal pyramidal sign, Anorexia, Ataxia, Pedal edema, Gastrointestinal hemorrhage, Po... ORPHA:3452
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Wild Type Attr Amyloidosis
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... ORPHA:330001
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Failure to thrive, Myoclonus, Cerebellar hypoplasia, Limb hypertonia OMIM:607196
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Spasticity, Myoclonic seizure, Seizure, Hepatosplenomegaly, Myoclonus,... ORPHA:309155
Timothy Syndrome
Pneumonia, Depressed nasal bridge, Atrioventricular block, Seizure, Pulmonary arterial hypertensi... OMIM:601005
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonus, Appendicu... OMIM:617669
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Impaired distal vibration sensation, Tremor, Fasciculations ORPHA:276435
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Edema, Fasciculations, Impaired temperature sensatio... OMIM:619574
Immunodeficiency 23
Allergic rhinitis, Somatic sensory dysfunction, Failure to thrive, Eczematoid dermatitis, Chronic... OMIM:615816
Isovaleric Acidemia
Bone marrow hypocellularity, Seizure, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocyt... OMIM:243500
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis OMIM:614017
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Cryptorchidism... OMIM:300957
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Atrophy/Degeneration affecting the bra... ORPHA:95428
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Difficulty walking, Hamstring contractures, Facial myokymia, Hemiparesis, Peripheral ... ORPHA:139396
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Leukodystrophy, Olivopontocere... OMIM:278800
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Abnormal peripheral nervous ... ORPHA:353327
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Dysphagia, Dehydration OMIM:618958
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Brain-Lung-Thyroid Syndrome
Incoordination, Abnormal eating behavior, Ataxia, Hypoparathyroidism, Choreoathetosis, Involuntar... ORPHA:209905
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Cerebral atrophy, Seizure, Generalized dystonia, Myoclonus, Gait disturbance,... ORPHA:412217
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia, Ataxia OMIM:617201
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus... OMIM:620352
Epilepsy, Progressive Myoclonic, 10
Spasticity, Generalized myoclonic seizure, Seizure, Myoclonus, Spastic ataxia, Ataxia, Spastic te... OMIM:616640
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Dysphagia, Progressive cerebellar ataxia, Impaired vibratory sensa... OMIM:164400
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Ankle cl... OMIM:615398
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Seizure, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR in... ORPHA:542306
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia, Cerebral hemorrhage ORPHA:324708
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia ORPHA:3197
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthesia, Tremor, Distal sensor... OMIM:616719
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Seizure, Anteverted nares, Bradycardia, Brain atrophy,... OMIM:610015
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Macroorchidism, Enamel hypoplasia ORPHA:139474
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Arnold-Chiari Malformation Type I
Abnormality of the eleventh cranial nerve, Myelopathy, Somatic sensory dysfunction, Brain stem co... ORPHA:268882
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Spasticity, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Infantile spasms... ORPHA:457351
Netherton Syndrome
Allergic rhinitis, Failure to thrive, Angioedema, Eczematoid dermatitis, Hypernatremic dehydratio... OMIM:256500
Pontocerebellar Hypoplasia, Type 7
Wide nasal bridge, Tongue fasciculations, Spasticity, Spastic paraplegia, Broad nasal tip, Hypopl... OMIM:614969
Cystinosis
Type I diabetes mellitus, Polydipsia, Failure to thrive, Portal hypertension, Abnormal pyramidal ... ORPHA:213
Congenital Syphilis
Pneumonia, Uveitis, Keratitis, Seizure, Extramedullary hematopoiesis, Intrauterine growth retarda... ORPHA:499009
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal brainstem morphology, Abnormal ce... ORPHA:1532
Adrenomyeloneuropathy
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Bac... ORPHA:139399
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discha... OMIM:616973
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, EEG with temporal focal spikes, Hypertonia, Exaggerated startle respon... ORPHA:163985
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonu... ORPHA:500144
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal fear-induced behav... ORPHA:309246
H Syndrome
Corneal arcus, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatospl... ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Juvenile cataract, Wrist flexion contracture, Macroorchidism, Flexion... OMIM:300055
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Oral-pharyngeal dysphagia, Facial diplegia, Distal sensory impairment, Periphe... OMIM:616287
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... OMIM:300400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Muscular dystrophy, Hypoplasia of the brainstem, Inability to walk,... OMIM:613155
Carboxypeptidase N Deficiency
Allergic rhinitis, Angioedema OMIM:212070
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Bronchiectasis OMIM:615504
Niemann-Pick Disease Type C
Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Frontal ... ORPHA:646
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... OMIM:109150
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Focal hyperkinetic seizure, Cerebellar vermis atrophy, Generalized-onset seizure, Dif... ORPHA:77299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Hemiplegia/hemiparesis, Lethargy, Dystonia, Choreoathetosis ORPHA:289916
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, Febr... OMIM:618012
Tetanus
Bradycardia, Tremor, Rigidity, Hypertension, Opisthotonus, Spasticity of pharyngeal muscles, Hype... ORPHA:3299
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual ... OMIM:617281
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:615451
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Clumsiness, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Pseudo-Torch Syndrome 2
Seizure, Ascites, Cerebral hemorrhage, Pleural effusion, Cerebellar hypoplasia, Thrombocytopenia,... OMIM:617397
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Seizure, Ataxia ORPHA:324290
Spinocerebellar Ataxia 10
Cerebellar atrophy, Seizure, Incoordination, Decreased nerve conduction velocity, Limb fasciculat... OMIM:603516
Partington Syndrome
Macroorchidism ORPHA:94083
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Dystonia, Ataxia OMIM:246900
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Continuous spike and waves during slow sleep, Generalized non-motor (absence)... OMIM:620224
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... OMIM:162100
Angelman Syndrome
Broad-based gait, Polyphagia, Ataxia, Atypical absence seizure, Dysphagia, Self-injurious behavio... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Eosinophilic Gastroenteritis
Allergic rhinitis, Hematochezia, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weight l... ORPHA:2070
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Tip-toe gait, Seizure, Failure to thrive, Anorexia, Infantile spasms, R... ORPHA:3008
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Inability ... OMIM:619229
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Bradycardia OMIM:620265
Myopathy With Extrapyramidal Signs
Growth delay, Seizure, Difficulty walking, Cerebellar dysplasia, Chorea, Anteverted nares, Leukoc... OMIM:615673
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Severe demyelination of the white matter... OMIM:236792
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Optic atrophy, Leukop... OMIM:617303
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Abnormal pyramidal sign, Ataxia, Dystonia, Choreoat... ORPHA:765
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Laryngeal dystonia, Paresthesia, Pseudohypoparath... ORPHA:94090
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... ORPHA:64280
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Bradycardia,... OMIM:232500
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorch... ORPHA:284180
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, CNS hypomyelination, Aggressive beh... ORPHA:369939
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Abnormal pyramidal sign, Clonus, Hypoglycosylati... ORPHA:370959
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration ORPHA:79159
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Pulmonary arterial hypertension, Sinusitis, Rhinitis... ORPHA:662
Bardet-Biedl Syndrome 18
Cataract, Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Familial Cold Urticaria
Polydipsia, Arthritis, Conjunctivitis, Dysesthesia, Dehydration ORPHA:47045
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Ataxia OMIM:620270
Romano-Ward Syndrome
Seizure, Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia,... ORPHA:101016
Autosomal Agammaglobulinemia
Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neu... ORPHA:33110
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Superficial Siderosis
Lower limb muscle weakness, Abnormality of the brachial nerve plexus, Abnormal pyramidal sign, At... ORPHA:247245
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Cardiomyopathy, Seizure, Leukopenia, Cerebellar hemorrhage, Pancreatitis, Neut... OMIM:251000
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Fai... OMIM:243700
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Seizure, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia, A... ORPHA:1020
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Postnatal growth retardation, Infantile spasms, Cerebellar hypoplasia, Toni... OMIM:620028
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:616726
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Self-injurious behavior, Seizure, Stereotypical hand wringing ORPHA:397933
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Scheie Syndrome
Aortic regurgitation, Spastic paraparesis, Cerebral palsy, Splenomegaly, Rhinitis ORPHA:93474
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... ORPHA:559
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... OMIM:615482
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tremor ORPHA:276608
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Eczematoid dermatitis, Failure to thrive in infancy, Decreased proportion... OMIM:617241
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Aspiration pneumonia, Ascites... OMIM:301072
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Facial paralysis, Seizure, Extramedullary hematopoiesis, Osteomyelitis,... OMIM:259710
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilepticus, Intent... OMIM:614307
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Seizure, Obesity, Gait imbalance, Myoclonus, Abnormal eating behavior, Tremor, ... ORPHA:98794
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... ORPHA:486
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopa... ORPHA:70595
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Dystonia, Hem... OMIM:615010
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bilat... OMIM:619911
Pyridoxal Phosphate-Responsive Seizures
Global brain atrophy, Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait, Status ep... ORPHA:79096
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone l... ORPHA:556030
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Seizure, Congestive heart failure, Postnatal growth re... OMIM:610198
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Multiple lipomas, Ovarian serous cystadenoma... ORPHA:276280
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Failure to thrive, Seizure, Generalized dystonia, Prominent nose, ... OMIM:618076
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Urocanic Aciduria
Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure, Chiari type I malformation ORPHA:459074
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Ciliary Dyskinesia, Primary, 12
Chronic sinusitis, Chronic rhinitis, Short stature, Chronic otitis media, Bronchiectasis OMIM:612650
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Hyperekplexia 3
Myoclonus, Syncope, Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Citrullinemia Type I
Spasticity, Ankle clonus, Lethargy, Torticollis, Ataxia, Slurred speech ORPHA:247525
Sialidosis Type 1
Wide nasal bridge, Seizure, Myoclonus, Splenomegaly, Tremor, Gait disturbance, Ataxia, Short stat... ORPHA:812
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Valinemia
Hyperkinetic movements OMIM:277100
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Opisthotonus, Parkinsoni... ORPHA:300605
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Bronchiectasis, Recurrent sinusitis OMIM:615505
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis OMIM:612126
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Intellectual Developmental Disorder, Autosomal Dominant 74
Bilateral tonic-clonic seizure, Typical absence seizure, Hypertonia OMIM:620688
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Intrauter... ORPHA:99885
Developmental And Epileptic Encephalopathy 46
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Seizure, Generalized-onset seizure, Obesity, Intrauterine growth re... OMIM:619737
Infantile Neuroaxonal Dystrophy
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Spastic tetraparesis, Abnormality of peri... ORPHA:35069
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Seizure, Paroxysmal atrial fib... OMIM:604772
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus, Cryptorchidism, Arrhythmia, Cardiac arrest, Growth delay ORPHA:168593
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Seizure, Cardiomyopathy, Gait ataxi... OMIM:620089
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Ciliary Dyskinesia, Primary, 11
Short stature, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:612649
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Classic Galactosemia
Depression, Incoordination, Speech apraxia, Postural tremor, Action tremor, Clumsiness, Lethargy,... ORPHA:79239
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty w... ORPHA:100989
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Focal impaired awareness seizure, Decreased motor nerve conduction velocity,... OMIM:608804
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Thenar muscle weakness, Impaired... ORPHA:171617
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Cataract OMIM:230200
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Idiopathic Congenital Hypothyroidism
Facial edema, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:95717
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice OMIM:618881
Susac Syndrome
Upper motor neuron dysfunction, Lethargy, Apathy, Gait ataxia ORPHA:838
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Seizure, Tremor, Ataxia OMIM:300983
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Seizure, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Congestive ... OMIM:261740
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Facial diplegia OMIM:611890
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Seizure, Nephrogenic diabetes insipidus, Short stature, Hypertonic... OMIM:125800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Chorea, ... OMIM:300260
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Seizure, Limb dysmetria, Positive Romberg sign, Dysmetria, Abnormal... ORPHA:94125
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Japanese Encephalitis
Opisthotonus, Anorexia, Paucity of anterior horn motor neurons, Focal motor seizure, Choreoatheto... ORPHA:79139
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Seizure, Short stature, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Abnormal cerebellum morphology, H... OMIM:211530
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Seizure, Stereotypical body rockin... OMIM:617302
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Seizure, Growth delay, Hypernatremic dehydration, Nephrogenic diab... ORPHA:223
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Clark-Baraitser syndrome
Obesity, Macroorchidism OMIM:300602
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Bronchiectasis, Recurrent sinusitis OMIM:615500
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Seizure, Obesity, Myoclonus, Polyphagia, Delayed puberty, Episodic hemolytic ... ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Spasticity, Cerebellar atrophy, Type I diabetes mellitus, Cerebral atrophy... OMIM:618397
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Seizure, Difficulty walking... 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
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, Gro... OMIM:608800
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Spastic paraparesis, Cerebral palsy, Cardiomyopathy, A... ORPHA:93473
Stiff-Person Syndrome
Rigidity, Hypertension, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia, Tac... OMIM:184850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Optic atrophy, Spasticity, Platyspondyly, Kyphosis, Seizure, Difficulty... OMIM:618476
Posttransplant Acute Limbic Encephalitis
Dystonia, Myoclonus, Seizure, Ataxia ORPHA:163921
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... OMIM:610600
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Nasal congestion, Myoclonus, Limb dystonia, Babins... OMIM:608643
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Failure to thrive, Enamel hypoplasia, Macroorchidism, Iris coloboma OMIM:618874
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Abnormal cereb... OMIM:169500
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Bilateral cryptorchidism, Myocl... ORPHA:466722
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Motor axonal neuropathy, Neurod... OMIM:614298
Alg12-Cdg
Recurrent pneumonia, Failure to thrive, Seizure, Intrauterine growth retardation, Prominent nasal... ORPHA:79324
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Pontocerebellar Hypoplasia, Type 6
Spasticity, Appendicular spasticity, Lethargy, Lower limb spasticity, Upper limb spasticity OMIM:611523
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Seizure, Cardiomyopathy, Premature ventricular contraction, ... OMIM:212138
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased ci... ORPHA:562
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur... OMIM:618160
Laurence-Moon Syndrome
Cataract, Obesity, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement... ORPHA:2377
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Seizure, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular ... OMIM:619167
Dpm1-Cdg
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Early onset absence seizures, Pontocerebellar at... ORPHA:79322
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Filippi Syndrome
Wide nasal bridge, Cerebellar atrophy, Seizure, Underdeveloped nasal alae, Postnatal growth retar... OMIM:272440
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100999
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Failure to thrive, Decreased circulating aldosterone level, Growth delay, Dehydratio... OMIM:203400
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Tremor, Abnormal mitral valve morphology, Gait disturbance, Hypertonia, Anemia ORPHA:1192
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Cerebral atrophy, Seizure, Infantile spasms, Myoclonus, Short stature, Spastic... OMIM:614261
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Lethargy, Hypertonia OMIM:236270
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infec... OMIM:603165
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Failure to thrive, Dehydration ORPHA:28
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Neuroectodermal Melanolysosomal Disease
Spasticity, Seizure, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Wide nasal bridge, Broad-based gait, Seizure, Underdeveloped nasal alae, Inability to walk, Antev... OMIM:616158
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Cerebral edema, Growth delay, ... OMIM:614462
Juvenile Sialidosis Type 2
Spasticity, Seizure, Hepatosplenomegaly, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spa... ORPHA:93399
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Phenylketonuria
Lower limb spasticity, Seizure, Tremor, Ataxia ORPHA:716
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... OMIM:614946
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Chronic rhinitis OMIM:618801
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure OMIM:609241
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Prominent nasal bridge, Myo... OMIM:620451
Trisomy 20P
Abnormal localization of kidney, Camptodactyly of finger, Umbilical hernia, Abnormality of the ur... ORPHA:261318
Lissencephaly 2
Generalized-onset seizure, Hypoplasia of the pons, Cerebellar hypoplasia OMIM:257320
Hyperekplexia 1
Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls OMIM:149400
Hereditary Methemoglobinemia
Spasticity, Temporal cortical atrophy, Cerebellar atrophy, Global brain atrophy, Seizure, Frontal... ORPHA:621
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Abnormal morphology of musculature of pharynx, Cerebellar ... ORPHA:280210
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Dehydration, Aspiration ... ORPHA:94093
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,... ORPHA:95496
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Hyperinsulinemia, Syncope, Orthostatic hypotension, Anemia, Rh... ORPHA:230
Shigellosis
Pneumonia, Hypovolemic shock, Microangiopathic hemolytic anemia, Febrile seizure (within the age ... ORPHA:810
Autoimmune Hypoparathyroidism
Chronic mucocutaneous candidiasis, Laryngeal dystonia, Paresthesia, Autoimmune hypoparathyroidism... ORPHA:36913
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... OMIM:608971
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydranencephaly, Seizure, Hypoplasia of the brainstem, Akinesia, C... OMIM:225790
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... OMIM:612020
Harlequin Ichthyosis
Self-injurious behavior, Depressed nasal ridge, Erythroderma, Sudden cardiac death, Dehydration ORPHA:457
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine... OMIM:261640
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis OMIM:610185
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276575
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Nasal polyposis, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:617092
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Renal dysplasia, Elbow flexion contracture, Renal insufficiency, Knee flexion contractu... OMIM:608836
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Spasticity, Seizure, Generalized-onset seizure, Inability to walk, ... ORPHA:357058
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Impaired vi... OMIM:616795
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger ORPHA:776
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Infantile Krabbe Disease
Hyperesthesia, Spasticity, Failure to thrive, Seizure, Myoclonus, Ankle clonus, Diffuse cerebral ... ORPHA:206436
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
Serotonin Syndrome
Hypotension, Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Tachycardia, Restlessness,... ORPHA:43116
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Enlarged ... OMIM:200995
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Inability to walk, Infantile spasms, Hyperkinetic movements, Dysphagia OMIM:618374
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:614679
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... OMIM:277460
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Eleva... OMIM:620501
Leukodystrophy, Hypomyelinating, 6
Spasticity, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... OMIM:162500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Abnormal pyramidal sign, Ataxia OMIM:618228
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign... ORPHA:99949
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Tremor, Distal sensory impairment, Babinski sign, Hypertonia OMIM:609260
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cataplexy, Sei... OMIM:617193
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276580
Typhoid
Lethargy, Tremor, Hypertonia, Ataxia ORPHA:99745
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Rhinitis, Recurrent sinusitis OMIM:614874
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:616481
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy, Seizure... OMIM:607459
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Anorexia, Abnormal brainstem morphology, Atrophy... ORPHA:99852
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Scorpion Envenomation
Hemifacial spasm, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Ataxia, Tachyca... ORPHA:466677
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure, Hemip... ORPHA:395
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neurodegeneration,... ORPHA:391428
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Familial Thyroid Dyshormonogenesis
Facial edema, Depressed nasal bridge, Thyroid defect in oxidation and organification of iodide, E... ORPHA:95716
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... ORPHA:139480
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Angioedema, Recurrent otitis media, Hashimoto thyroiditis, Presyncope OMIM:614468
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... ORPHA:100024
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Inflammatory abnormality of the skin, Failure to thrive, Seizure, Tetrapl... OMIM:610768
Mitochondrial Complex I Deficiency, Nuclear Type 5
Babinski sign, Dystonia, Lethargy, Ataxia OMIM:618226
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Cerebral atrophy, Seizure, Dehydra... ORPHA:79282
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Seizure, Decreased body weight, Hyperkinetic movements, Photosensitive tonic-... OMIM:300243
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Abnormal cranial nerve morphology, Anorexi... ORPHA:297
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Focal-onset seizure OMIM:618972
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest ORPHA:70587
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Sepsis In Premature Infants
Hypotension, Seizure, Leukocytosis, Splenomegaly, Decreased body weight, Enterocolitis, Neutropen... ORPHA:90051
Congenital Sialidosis Type 2
Spasticity, Seizure, Abnormal EKG, Ascites, Hepatosplenomegaly, Myoclonus, Dysmetria, Telangiecta... ORPHA:93400
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Fatal Familial Insomnia
Myoclonus, Weight loss, Neuronal loss in central nervous system, Ataxia, Dysphagia OMIM:600072
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral ... OMIM:212140
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchiectasis OMIM:614935
Pediatric-Onset Graves Disease
Polyphagia, Increased circulating T4 concentration, Polydipsia, Graves disease, Goiter, Palpitati... ORPHA:525731
Arachnoid Cyst
Chiari malformation, Lower limb muscle weakness, Tetraparesis, Encephalocele, Distal sensory impa... ORPHA:2356
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Spasticity, Generalized non-motor (absence) seizure, Seizure, Babin... OMIM:615802
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Depressed nasal bridge, Increased pituitary glycoprotein hormone alpha subunit leve... ORPHA:90674
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Global brain atrophy, Failure to thrive, Seizure, Cerebral atrophy, Generalized-onset... OMIM:612073
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology ORPHA:180229
Riboflavin Deficiency
Lethargy OMIM:615026
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, Tremor, Generalized tonic seizure, Bila... OMIM:612164
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Failure to thrive, Cerebral atrophy, Seizure, Tremor, Clonus, Hypertonia, Bradycard... OMIM:617248
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... OMIM:609033
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, Failure to thrive, Seizure, Rigidity OMIM:300673
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Myoclonus, Cerebral atrophy, Cerebellar atrophy OMIM:619609
D-Glyceric Aciduria
Spasticity, Seizure, Chorea, Myoclonus, Brain atrophy ORPHA:941
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism, Contractures of the large joints ORPHA:324410
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... ORPHA:98933
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-an... OMIM:264350
Netherton Syndrome
Eczematoid dermatitis, Seizure, Skin rash, Erythroderma, Short stature, Dehydration ORPHA:634
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Decreased nerve ... OMIM:256600
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar vermis, Eczematoi... OMIM:617751
Bloom Syndrome
Pneumonia, Recurrent tonsillitis, Intrauterine growth retardation, Acute lymphoblastic leukemia, ... ORPHA:125
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Cerebellar atrophy, Hypoplasia of the pons, Seizure, Abnormal brainstem... ORPHA:300573
Pitt-Hopkins-Like Syndrome 1
Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo... OMIM:610042
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... OMIM:183086
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss, Keratoconjunctivitis sicca, Hep... ORPHA:79128
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Seizur... ORPHA:199351
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spa... ORPHA:79351
Melas
Type II diabetes mellitus, Hemiparesis, Ataxia, Hypoparathyroidism, Concentric hypertrophic cardi... ORPHA:550
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Fragile X Syndrome
Macroorchidism ORPHA:908
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Abnormality ... OMIM:614299
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Neutropenia, Ataxia, Hypoparathyroidism, Hypoplastic ... ORPHA:699
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Cerebellar atrophy, Inability to walk, Epile... OMIM:619580
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Perrault Syndrome 4
Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovar... OMIM:615300
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Bronchiectasis OMIM:615444
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Recurrent pneumonia, Seizure, Aspiration pneumonia, Epileptic spasm, Spee... ORPHA:314655
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Seizure, Myoclonus, Anemia, Cardiac arrest, Dehydration OMIM:246450
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic paraparesis, Cereb... ORPHA:329308
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Spasticity OMIM:603896
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia OMIM:618240
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Febrile s... OMIM:614207
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Seizure, Pancytopenia, Tremor, Neutropenia, Thrombocytopenia, Anemia, Dehydration OMIM:251100
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Widening of cervical spinal canal, Paucit... OMIM:253310
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid... ORPHA:94089
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Chronic sinusitis, Chronic rhinitis ORPHA:922
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit... OMIM:608647
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Cyclic Vomiting Syndrome
Lethargy, Ataxia OMIM:500007
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, Inability to walk, Chorea, Infantile... ORPHA:404454
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Inguinal hernia, Enlarged kidney, Cystic... OMIM:608022
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Shock, Abnormal lympho... ORPHA:99826
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, Focal motor seizure ORPHA:542310
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss, Enter... ORPHA:95427
Ige Responsiveness, Atopic
Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Tip-toe gait, Seizure, Decreased nerve conduction velocity, Gait ataxia, Babinski sig... ORPHA:309256
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Distal sensory impairment, Limb fasciculations, Somatic sensory dysfunction, Tremor ORPHA:90117
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-an... OMIM:177735
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Arrhythmia, Clonus, Ataxia, Dysphagia, Involuntary movements, Global brain atroph... ORPHA:480864
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, ... ORPHA:171695
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Myoclonic seizure, Typical absence seizure, Broad nasal tip, Seizure, Feb... OMIM:619777
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Hyperparathyroidism, Umbilical hernia, Inguinal hernia, Ovarian cyst, ... OMIM:618188
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Micropenis, Anterior ... OMIM:615849
Developmental And Epileptic Encephalopathy 41
Babinski sign, Spasticity, Lethargy, Tetraparesis OMIM:617105
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism ORPHA:363741
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Seizure, Pseudobulbar paralysis, Difficulty walkin... ORPHA:99857
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Seizure, Abnormal cerebellum morphology, Gait ataxia, Dys... OMIM:618056
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Impaired pain sensation, Tremor, Ataxia ORPHA:99014
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Spinocerebellar Ataxia Type 27
Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... ORPHA:983
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Impaired vibratio... ORPHA:171612
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Optic atrophy, Conjunctivitis, Heparan sulfate excretion in urine, H... ORPHA:505248
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Failure to thrive, Myoclonus, Abnormality of extrapyramidal motor function, Opi... OMIM:605711
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Ascites, Renal insuf... OMIM:276700
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration ORPHA:69076
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Postnatal growth retardation, Self-biting, Ataxia, Long nose, Motor stereotypy, Short no... OMIM:300912
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive, Dehydration OMIM:143880
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Failure to thrive, Dehydration OMIM:251120
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguous, Abnormal heart ... ORPHA:244
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Glucocorticoid Deficiency 2
Recurrent pneumonia, Myoclonic seizure, Bilateral cryptorchidism, Increased circulating ACTH leve... OMIM:607398
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Tremor, Fasciculations OMIM:313200
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Dehydration, Edema ORPHA:103910
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Goiter, D... ORPHA:226313
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Syringomyelia, A... ORPHA:1320
Ciliary Dyskinesia, Primary, 40
Chronic sinusitis, Chronic rhinitis OMIM:618300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Hypotension, Failure to thrive, Seizure, Tremor, Abnormality of extrap... OMIM:277400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Hyperinsulinemia, ... ORPHA:324575
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Seizure, Tremor, Rigidity, Ataxia OMIM:603472
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer... ORPHA:98760
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Head tr... OMIM:606002
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Third degree atrioventricular block, Anteverted nares, Hypoplasia of th... ORPHA:40366
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, ... OMIM:128100
Autosomal Recessive Spastic Paraplegia Type 35
Difficulty walking, Peripheral demyelination, Spastic tetraparesis, Spastic paraplegia, Foot dors... ORPHA:171629
Acute Disseminated Encephalomyelitis
Involuntary movements, Myelitis, Somatic sensory dysfunction, Seizure, Abnormal cerebellum morpho... ORPHA:83597
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Ethylene Glycol Poisoning
Hypotension, Seizure, Congestive heart failure, Shock, Myoclonus, Pulmonary edema, Addictive alco... ORPHA:31826
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Cerebellar vermis hypoplasia, Failure to thrive, Seizure, Postnatal growth retardation, Aggressiv... OMIM:620242
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Chor... OMIM:610217
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Seizure, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the th... OMIM:214110
Saccharopinuria
Seizure, Gait ataxia, Distal sensory impairment, Tremor, Spastic diplegia ORPHA:3124
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Seizure, Cerebral atroph... OMIM:618426
Subependymal Nodular Heterotopia
Acroparesthesia, Limb myoclonus, Seizure, Focal aware seizure, Focal-onset seizure ORPHA:101030
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... OMIM:617798
Cholera
Hypovolemic shock, Hypotension, Seizure, Aspiration pneumonia, Tachycardia, Dehydration ORPHA:173
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Farber Disease
Spasticity, Recurrent upper respiratory tract infections, Failure to thrive, Seizure, Ascites, He... ORPHA:333
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Anteverted nares, Infantile spasms, Myoclonus, Ankle clonus, Impulsiv... OMIM:620423
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly OMIM:204000
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Retinal hemorrhage, Erythema nodosum, Anorexia, Neutrophilia, Ta... ORPHA:99827
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Seizure ORPHA:85179
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Chiari malformation, Eczematoid dermatitis, Seizure, Annular pancr... OMIM:618162
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Dehydration OMIM:602722
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Tremor OMIM:607734
Multiple System Atrophy, Cerebellar Type
Depression, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigidity, ... ORPHA:227510
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Persistent fetal ci... OMIM:618775
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, ... ORPHA:96
Primary Angiitis Of The Central Nervous System
Seizure, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking, Speech apraxia, Chorea, Inabil... OMIM:615356
Sialidosis Type 2
Nephropathy, Umbilical hernia, Ascites, Inguinal hernia, Splenomegaly, Corneal opacity, Hepatomeg... ORPHA:87876
Necrotizing Enterocolitis
Hypotension, Ascites, Shock, Leukocytosis, Peritonitis, Neutropenia, Bradycardia, Thrombocytopeni... ORPHA:391673
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Seizure, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, ... ORPHA:447753
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Splenomegaly, Skin rash, Anemia of inadequate production OMIM:612714
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Spasticity, Ataxia ORPHA:2394
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Dend Syndrome
Seizure, Anteverted nares, Short nose, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Myoclonus, Weight loss, Ataxia, Anemia, Hypertension OMIM:256700
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otiti... OMIM:244400
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Neurodegeneration, Torsade de pointes, Clonus, Ataxia, Ventricular fib... OMIM:616878
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hepatic steat... OMIM:612526
Hyperphosphatasia-Intellectual Disability Syndrome
Wide nasal bridge, Seizure, Supernumerary nipple, Bulbous nose, Oligohydramnios, Myoclonus, Promi... ORPHA:247262
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Large for gestational age... ORPHA:500095
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Degcags Syndrome
Oral-pharyngeal dysphagia, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Abnormal spleen morp... OMIM:619488
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:620151
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ... ORPHA:90790
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Prolonged QT interval, Br... OMIM:613327
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice OMIM:620010
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Septate vagina, Male pseu... OMIM:608978
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar a... OMIM:620327
4H Leukodystrophy
Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tremor, Polycystic ovaries, Gait distu... ORPHA:100
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Cystathioninuria
Seizure, Tremor ORPHA:212
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremo... ORPHA:477673
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Limb muscle weakness, Impaired distal tactile sensation ORPHA:90064
Wagr Syndrome
Cataract, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of the urethral m... ORPHA:893
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Inability to walk, Anteverted nares, Infantile spasms, Myoclo... OMIM:300672
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Crigler-Najjar Syndrome Type 1
Seizure, Tremor ORPHA:79234
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Hypogonadotrop... OMIM:607694
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Encephalitis Lethargica
Tremor, Parkinsonism, Seizure, Bradycardia ORPHA:83600
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Postsynaptic Congenital Myasthenic Syndromes
Decreased miniature endplate potentials, Fatigable weakness of respiratory muscles, Facial palsy,... ORPHA:98913
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Small for gestational age, Cerebellar atrophy, Growth delay, Seizure, Eczematoid dermatit... OMIM:617799
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Immunodeficiency 9
Failure to thrive, Difficulty walking, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of ... OMIM:612782
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Keloids, Decreased testicular size, Obesity, Cryptorchidism, Abnormality of retinal pig... ORPHA:3085
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Sneddon Syndrome
Chorea, Seizure, Tremor, Hemiparesis ORPHA:820
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramida... OMIM:618249
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Chronic rhinitis OMIM:242670
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Proteus Syndrome
Chorioretinal coloboma, Cachexia, Cataract, Retinal nonattachment, Abnormal subcutaneous fat tiss... ORPHA:744
Oromandibular Dystonia
Blepharospasm, Abnormality of the nose, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb d... ORPHA:93958
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visce... ORPHA:116
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Lathosterolosis
Chiari malformation, Failure to thrive, Seizure, Bulbous nose, Intrauterine growth retardation, A... ORPHA:46059
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Lymphadenopathy, Decrease... OMIM:615513
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Isolated Atp Synthase Deficiency
Spastic paraplegia, Lethargy, Tetraplegia, Ataxia, Dystonia ORPHA:254913
Congenital Myopathy 22A, Classic
Wide nasal bridge, Tricuspid regurgitation, Bradycardia, Polyhydramnios, Frequent falls, Waddling... OMIM:620351
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocyto... OMIM:603552
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Annular pancreas, Seizure, Inability t... ORPHA:97297
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100993
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, Spasticity, Failure to thrive, Seizure, Cerebral atrophy, Inability to... OMIM:616420
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Ovarian teratoma, Testicular teratoma, Seizure, General... ORPHA:217253
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Oligomeganephronia
Polydipsia, Seizure, Hypertension, Small for gestational age, Dehydration ORPHA:2260
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Splenomegaly... OMIM:618963
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface he... OMIM:243150
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Bardet-Biedl Syndrome
Spasticity, Inflammation of the large intestine, Type II diabetes mellitus, Cryptorchidism, Polyc... ORPHA:110
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... OMIM:613280
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension OMIM:263570
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Epistaxis, Polydipsia, Focal myoclonic seizure, Seizure, Cerebral palsy, Seco... ORPHA:369929
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Babinski sign, Lethargy, Ataxia, Spastic tetraparesis OMIM:615838
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Spasticity, Bulbous nose, Myoclonus, Focal seizure with eyelid myoc... ORPHA:2752
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Impotence, Aplasia/hypoplasia of the uterus, Ab... ORPHA:2232
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis, Hyperlordosis OMIM:614198
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Pontocerebellar atrophy, Foc... ORPHA:258
9P13 Microdeletion Syndrome
Wide nasal bridge, Precocious puberty, Hand tremor, Recurrent otitis media, Bruxism, Anteverted n... ORPHA:324313
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... OMIM:615960
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:206443
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Unilateral Polymicrogyria
Epistaxis, Spastic tetraplegia, Involuntary movements, Seizure, Pseudobulbar paralysis, Infantile... ORPHA:268943
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Postnatal growth retardation, Decreased serum insulin-like growt... OMIM:618985
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Cerebral cortical atrophy, Seizure, Cardiomyopathy, Myoclonus, Polyhydramnios OMIM:614922
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Leg muscle stiffness, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C... ORPHA:79301
Snakebite Envenomation
Epistaxis, Hypotension, Neuromuscular dysphagia, Cardiogenic shock, Angioedema, Pseudobulbar para... ORPHA:449285
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait ataxia, Action tremor,... OMIM:300623
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Ataxia OMIM:237300
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Generalized non-motor (absence) seizure ORPHA:363686
Crome Syndrome
Cerebellar dysplasia, Seizure OMIM:218900
Ichthyosis Prematurity Syndrome
Polyhydramnios, Allergic rhinitis, Erythroderma OMIM:608649
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... ORPHA:1414
Choreoacanthocytosis
Resting tremor, Limb dystonia, Acanthocytosis, Hair-pulling, Loss of ambulation, Parkinsonism, Fr... ORPHA:2388
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Fai... ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Maple Syrup Urine Disease, Type Ia
Lethargy, Hypertonia, Ataxia OMIM:248600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Neutropenia, Otitis media,... OMIM:612541
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Hepatopulmonary... OMIM:618280
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Lethargy, Spasticity, Poor coordination OMIM:250940
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Failure to thrive, Oligohydramnios, Nephrogenic diabetes insipidus, Thrombo... OMIM:208085
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Hypoplasia of the brainstem, Difficult... ORPHA:572798
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Eryth... OMIM:603554
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Kyphosis, Scapula... OMIM:181405
Microtriplication 11Q24.1
Speech apraxia, Obesity, Bruxism, Hyperkinetic movements, Short stature, Retrocerebellar cyst, Wi... ORPHA:289522
Metachromatic Leukodystrophy, Juvenile Form
Spasticity, Seizure, Decreased nerve conduction velocity, Clumsiness, Babinski sign, Progressive ... ORPHA:309263
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Umbilical hernia, Megalocornea, Inguinal hernia, Splenomegaly, Cardiomegaly, H... OMIM:252500
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Aromatase Deficiency
Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Eunuchoid habitus, Cryptorchi... ORPHA:91
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ... ORPHA:99956
Alg11-Cdg
Failure to thrive, Seizure, EEG with burst suppression, Reduced social reciprocity, Opisthotonus,... ORPHA:280071
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Oligohydramnios, Hypoplasia of the thymus, Convex nasal ridge, T... OMIM:617022
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Increased level ... ORPHA:79237
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidne... ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Seizure, Intrauterine growth retardation, Myoclonus... OMIM:619055
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Difficulty walking, Inability to walk, Bradycardia, Recurrent aspiration p... ORPHA:70
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Congenital Rubella Syndrome
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Anem... ORPHA:290
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hypotension, Dehydration, Increased circulating renin level OMIM:620125
Tonne-Kalscheuer Syndrome
Spasticity, Broad-based gait, Abnormal heart morphology, Decreased testicular size, Cryptorchidis... OMIM:300978
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Waddling gait OMIM:616583
Parkinson Disease, Late-Onset
Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168600
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, EEG with generalized sharp slow wave... ORPHA:369837
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Seizure, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytosis, Periton... ORPHA:90038
Neuroblastoma
Elevated circulating catecholamine level, Antalgic gait, Myoclonus, Weight loss, Lymphadenopathy,... ORPHA:635
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hemiplegia/hemiparesis ORPHA:156
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Seizure, Hemiplegia, Chorea, Gait a... ORPHA:225147
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:618699
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Leigh Syndrome
Spasticity, Neutropenia, Ataxia, Dysphagia, Choreoathetosis, Involuntary movements, Eczematoid de... ORPHA:506
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia, Impai... OMIM:616586
Listeriosis
Arteritis, Hemiparesis, Pustule, Ataxia, Endocarditis, Somatic sensory dysfunction, Osteomyelitis... ORPHA:533
Weaver Syndrome
Spasticity, Generalized non-motor (absence) seizure, Seizure, Cerebellar hypoplasia, Hypertonia, ... OMIM:277590
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Spasticity, Spastic paraparesis, Seizure, Cerebral atrophy, Hepatosplenomegaly, Myoclonu... OMIM:609136
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Eczematoid dermatitis, Seizure, Recurrent otitis media, Cerebellar dysplasia... ORPHA:500159
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral hypomyelination, Abnormal autonomic nervo... OMIM:616683
Chronic Actinic Dermatitis
Allergic rhinitis, Late onset atopic dermatitis, Erythroderma, Eczematoid dermatitis ORPHA:330064
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Paraplegia, Ataxia ORPHA:927
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia OMIM:612740
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyra... ORPHA:306674
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Postnatal growth re... ORPHA:54595
Lamellar Ichthyosis
Short stature, Erythroderma, Chronic otitis media, Dehydration ORPHA:313
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Myoclonic seizure, Restlessness, Seizure, Oral-pharyng... OMIM:615273
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Abnormal brainstem morphology, Gait ataxia... ORPHA:93256
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Infantile spasms, Hair-pulling, Motor stereotypy, Lowe... ORPHA:447997
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Seizure, Cerebral atrophy, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Failure to thrive, Seizure, Hyperactive renin-angiotensin system, Hyperaldos... OMIM:601678
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Perry Syndrome
Depression, Bradykinesia, Tremor, Rigidity, Parkinsonism, Apathy, Dystonia OMIM:168605
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Scrub Typhus
Lethargy, Tremor ORPHA:83317
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, EEG with frontal focal spikes, Seizur... ORPHA:98889
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Abnormal... ORPHA:2969
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:300894
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Molybdenum Cofactor Deficiency, Type C
Hypoplasia of the pons, Generalized-onset seizure, Cerebellar hypoplasia, Limb hypertonia, Hypert... OMIM:615501
Mercury Poisoning
Hypotension, Seizure, Interstitial pneumonitis, Tremor, Anorexia, Tachycardia, Dystonia, Hyperten... ORPHA:330021
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Failure to thrive, Cataract ORPHA:570422
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Failure to thrive, Seizure, Hyperactive renin-angiotensin system, Hyperaldosteronism,... OMIM:241200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Macroorchidism OMIM:309520
Congenital Tufting Enteropathy
Choanal atresia, Failure to thrive, Punctate keratitis, Weight loss, Arthritis, Dehydration ORPHA:92050
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Trisomy X
Precocious puberty, Tremor, Ventricular septal defect, Atrial septal defect, Premature ovarian in... ORPHA:3375
Mirage Syndrome
Hypospadias, Microphallus, Lymphopenia, Leukopenia, Paraplegia, Decreased testicular size, Crypto... OMIM:617053
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ... OMIM:601186
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent upper respiratory tract infections, Rheumatoid arthritis,... ORPHA:183675
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Pe... ORPHA:563
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Bruxism, Bulbous nose, Brain atrophy,... OMIM:619297
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Sideroblastic anemia, Hydronephrosi... OMIM:222300
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Insulinoma
Lethargy, Tremor ORPHA:97279
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Abnormal social behavior, Seizure ORPHA:444002
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Failure to thrive, Overgrowth of external gen... ORPHA:508
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Seizure, Paresthesia, Limb muscle weakness, Gait ataxia, Dysmetria, ... ORPHA:217260
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Metachromatic Leukodystrophy, Adult Form
Spasticity, Seizure, Difficulty walking, Decreased nerve conduction velocity, Chorea, Progressive... ORPHA:309271
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
East Syndrome
Cerebellar atrophy, Seizure, Difficulty walking, Generalized-onset seizure, Inability to walk, Ac... ORPHA:199343
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Failure to thrive, Seizure, Edema, Pyoderma, Gastrointestinal ... ORPHA:79404
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Dysmetria, Ataxia OMIM:614867
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hemifacial spasm, Anteverted n... OMIM:213300
Free Sialic Acid Storage Disease
Iris hypopigmentation, Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatome... ORPHA:834
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Tremor, Weight loss, Increased circulating f... OMIM:613239
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Spontaneous Periodic Hypothermia
Seizure, Tremor, Ataxia ORPHA:29822
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Inguinal hernia... OMIM:614376
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Failure to thrive, Eosinophilic microabscess formation in t... ORPHA:411696
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Splenomegaly, R... OMIM:615630
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Seizure, Hypothyroidism, Growth delay, Dehydration, Hypovolemia ORPHA:411634
Kallmann Syndrome
Seizure, Abnormal morphology of female internal genitalia, Decreased testicular size, Paraplegia,... ORPHA:478
Pseudohypoparathyroidism Type 1C
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid... ORPHA:79444
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Prominent nasal bridge, Short nose, Tachycardia, Hypertension, Status epilepticus, ... OMIM:613870
22Q11.2 Deletion Syndrome
Cryptorchidism, Parkinsonism, Hypoparathyroidism, Chronic otitis media, Choanal atresia, Gastroin... ORPHA:567
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Opisthotonus, Lethargy OMIM:210200
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia ORPHA:79242
Molybdenum Cofactor Deficiency, Type B
Seizure, Cerebral atrophy, Diffuse cerebral atrophy, Opisthotonus, Bilateral tonic-clonic seizure... OMIM:252160
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia ORPHA:42
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Failure to thrive, Reduced erythrocyte galactose-1-phospha... OMIM:230400
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia OMIM:277410
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Evans Syndrome
Lethargy ORPHA:1959
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cataract, Renal hypoplasia, Bifid scrotum, Umbilical hernia, Pancytopenia, Renal insufficiency, C... ORPHA:85321
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Leukocytosis, Arrhythmia, Myocarditis, ... ORPHA:31824
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi... OMIM:216360
Oculoskeletodental Syndrome
Renal agenesis, Elbow flexion contracture, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopoly... OMIM:618440
Renal Hypoplasia
Hypertension, Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hashimo... ORPHA:64744
Muckle-Wells Syndrome
Nephropathy, Optic atrophy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Splenomeg... ORPHA:575
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Seizure, Cerebral atrophy, Hypertrophic cardiomyopathy, Myoclonus, Hyperkineti... ORPHA:17
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:612964
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, I... ORPHA:96191
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Depressed nasal bridge, Absent nipple, Xerostomia, Hypoplastic nipples, Rhinitis OMIM:614941
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Failure to thrive, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia, D... OMIM:251110
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Grow... OMIM:214700
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Tremor, Ataxia OMIM:201100
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Seizure, Dysmetria, Tremor, Multifocal seizures, Limb hypertonia, Hypertonia, Ataxia, Dystonia, A... OMIM:617710
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Seizure, Hypoplasia of the brainstem, Pec... OMIM:254940
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Somatic sensory dysfunction, Lower limb muscle weaknes... ORPHA:79093
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Small scrotum, Central hypothyro... ORPHA:398079
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopen... OMIM:557000
Familial Cervical Artery Dissection
Paralysis, Facial palsy, Paresthesia ORPHA:36382
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Thrombocytosis, Ane... OMIM:209950
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Hypoplasia of the odontoid process, Skeletal muscle atrophy, Seizure, Tetraparesis... OMIM:300232
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Argininemia
Spastic paraparesis, Cerebellar atrophy, Reduced erythrocyte arginase activity, Seizure, Postnata... OMIM:207800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Dehydration OMIM:615453
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Hypoplasia of the pons, Generalized ... OMIM:620455
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Abnormal social behavior, Seizure, Ataxia ORPHA:530983
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:42642
Pseudohypoparathyroidism Type 1A
Depressed nasal bridge, Involuntary movements, Pituitary resistance to thyroid hormone, Elevated ... ORPHA:79443
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
46,Xy Sex Reversal 11
Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy... OMIM:273250
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Aceruloplasminemia
Ataxia, Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Chorea, Limb ataxia, ... ORPHA:48818
Medulloblastoma
Dysmetria, Lethargy, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Intention tremor... ORPHA:616
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Meningioma
Increased circulating prolactin concentration, Hemifacial spasm, Difficulty walking, Hemiparesis,... ORPHA:2495
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Ova... ORPHA:400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Fai... ORPHA:289548
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Cataract, Anterior lenticonus, Glomerular base... OMIM:203780
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener... OMIM:120330
Lysosomal Acid Lipase Deficiency
Hypotension, Failure to thrive, Ascites, Adrenal calcification, Hepatosplenomegaly, Hypersplenism... ORPHA:275761
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyra... OMIM:272750
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Cerebellar hypoplasia, Cerebellar cyst, Typical absence seizure, Seizure OMIM:618343
Variegate Porphyria
Paralysis OMIM:176200
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Developmental And Epileptic Encephalopathy 89
Wide nasal bridge, Depressed nasal bridge, Spasticity, Myoclonic seizure, Cerebellar atrophy, Cer... OMIM:619124
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Renal agenesis, Bilia... OMIM:306955
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Fai... ORPHA:168558
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Dihydropyrimidinase Deficiency
Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Clonus, Motor stereotypy, Chronic otitis media, Self-injurious beh... ORPHA:534
Walker-Warburg Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeleta... ORPHA:899
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis ORPHA:90368
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Global brain atrophy, Cerebellar atrophy, Congestive heart failure, General... OMIM:620066
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Optic atrophy, Thoracolumbar kyphosis, Generalized myoclonic seizure, Cerebral atr... OMIM:230600
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Cataract, Failure to thrive, Dec... OMIM:301108
Triploidy
Iris coloboma, Cataract, Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Omp... ORPHA:3376
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration OMIM:614292
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Limb dystonia OMIM:604377
Autosomal Recessive Malignant Osteopetrosis
Otitis media, Tremor, Chronic rhinitis, Splenomegaly, Pulmonary arterial hypertension, Lymphadeno... ORPHA:667
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Hypertension, Bradycardia, Retinal hemorrhage, Tachycardia, Grow... OMIM:614653
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Aut... OMIM:618495
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:96147
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
N-Acetylglutamate Synthase Deficiency
Lethargy, Hypertonia OMIM:237310
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Resting tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Abnormality of extr... ORPHA:254892
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Tremor ORPHA:263455
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone e... OMIM:609981
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Glomerulopathy, Lipodystrophy, P... ORPHA:2348
Osteogenesis Imperfecta, Type Xv
Cerebellar hypoplasia, Platyspondyly, Scoliosis, Hypoplasia of the pons OMIM:615220
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Focal-onset seizure, Paralysis, Abnormal autonomic nervous system phys... ORPHA:83601
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Seizur... ORPHA:137675
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Sprengel Deformity
Neck muscle hypoplasia, Hemivertebrae, Spina bifida occulta, Cervical segmentation defect, Scolio... OMIM:184400
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Abnormal pyramidal sign, Ataxia OMIM:201470
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Coloboma, Micropenis, Optic n... OMIM:610125
Ogden Syndrome
Polycythemia, Umbilical hernia, Decreased testicular size, Macrovesicular hepatic steatosis, Ingu... OMIM:300855
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620126
Ogden Syndrome
Lethargy, Hypertonia, Torticollis ORPHA:276432
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Cardiomyopathy, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Ca... OMIM:105210
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... ORPHA:52368
Cocaine Intoxication
Pulmonary edema, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Involunt... ORPHA:90068
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Facial palsy, Unfavorable response ... ORPHA:98915
Autosomal Dominant Hypocalcemia
Hypotension, Eczematoid dermatitis, Congestive heart failure, Paresthesia, Arrhythmia, Writer's c... ORPHA:428
Sneddon Syndrome
Hemiplegia, Impaired distal tactile sensation, Seizure, Tremor OMIM:182410
Perrault Syndrome 3
Seizure, Streak ovary, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Unilateral renal hypoplasia, Reduced subcutaneous adipose ... OMIM:619950
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Syndromic Diarrhea
Wide nasal bridge, Aortic regurgitation, Lymphopenia, Intrauterine growth retardation, Splenomega... ORPHA:84064
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria... ORPHA:585
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Tetraparesis, Distal sensory impairment, Gait ataxia, Act... ORPHA:99027
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Abnormal circulating dehydroepiandrosterone concentration, Inc... ORPHA:90794
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... OMIM:615530
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Polycythemia, Micronodular cirrhosis, Hypertrophic cardiomyopathy, Difficult... ORPHA:309854
Classic Phenylketonuria
Depression, Hemiplegia, Paraplegia, Tremor, Hypertonia ORPHA:79254
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Pierson Syndrome
Cataract, Hypoplasia of the iris, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Rieger ... OMIM:609049
Aredyld Syndrome
Abnormal dental enamel morphology, Abnormality of the ureter, Splenomegaly, Cachexia, Hepatomegal... ORPHA:1133
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive, Dehydration ORPHA:35710
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Inguinal hernia, Cryptorchidism ORPHA:1069
Gm1 Gangliosidosis
Ataxia, Optic atrophy, Spasticity, Platyspondyly, Abnormal form of the vertebral bodies, Seizure,... ORPHA:354
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hyperaldosteronism, Hyperkinetic movements, Pul... ORPHA:73224
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Depressed nasal bridge, Small for gestational age, Chiari malformation, Failure to thr... OMIM:264090
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexion contr... OMIM:620369
Pseudo-Torch Syndrome 1
Cataract, Failure to thrive, Umbilical hernia, Renal insufficiency, Splenomegaly, Thrombocytopeni... OMIM:251290
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... OMIM:194380
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Inguinal her... ORPHA:1655
Micro Syndrome
Cataract, Microcornea, Abnormal localization of kidney, Optic atrophy, Retinal coloboma, Cryptorc... ORPHA:2510
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Seizure, Hepatosplenomegaly, Myoclonus, Reticulocytosis, Leukocytosis, Anisocy... OMIM:618278
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia... ORPHA:79477
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Absent nipple, Eczematoid dermatitis, Underdeveloped nasal alae, Aplasia/... OMIM:305100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Aspartylglucosaminuria
Cataract, Aspartylglucosaminuria, Hernia, Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Macr... OMIM:208400
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Hepatomegaly, Hy... OMIM:605309
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Decreased response to g... OMIM:615873
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Intrauterine growth retardation, Abnormality of the anterior pituitary, Posterior ... ORPHA:75389
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Aspartylglucosaminuria
Umbilical hernia, Aspartylglucosaminuria, Inguinal hernia, Splenomegaly, Hepatomegaly, Macroorchi... ORPHA:93
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia, Periodic paralysis OMIM:188580
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski sign, Parkinsonism,... ORPHA:247234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Scarring alope... ORPHA:59303
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Hemochromatosis, Type 1
Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Ci... OMIM:235200
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Digeorge Syndrome
Acne, Recurrent otitis media, Ovarian cyst, Hemiparesis, Cholelithiasis, Parathyroid hypoplasia, ... OMIM:188400
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Yellow Fever
Neutrophilia, Pancreatic hyperplasia, Seizure, Shock, Reduced left ventricular ejection fraction,... ORPHA:99829
Molybdenum Cofactor Deficiency, Type A
Seizure, Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Growth delay, Sp... OMIM:252150
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Hemolytic anemia, Paralysis, Short stature, Growth delay, Dehydration ORPHA:18
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal nerve conduct... ORPHA:2926
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia ORPHA:2169
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... OMIM:615387
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Myocardial necrosis, Abnormal medulla oblongata morphology, Restles... ORPHA:68
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Lymphope... OMIM:602450
Warburg Micro Syndrome 2
Small scrotum, Cataract, Microcornea, Optic atrophy, Cryptorchidism, Hypoplastic labia majora, De... OMIM:614225
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Nephrocalcinosis, Male hypogonadism, Cholelithiasis, Pigmentary retinopathy, Keratoconj... OMIM:240300
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... ORPHA:681
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Edema, Seizure, Cerebellar dysplasia, Anteverted nares, Pleural effusion,... OMIM:617822
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Intrauterine growth retardation, Short stature, Abnormal myelination, Growth delay OMIM:617333
Thalidomide Embryopathy
Short stature, Chronic rhinitis ORPHA:3312
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Speech apraxia, Lethargy, Abnormal pyramidal sign, Clonus, Spastic gait, Poor... ORPHA:415
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Alpha-Mannosidosis, Adult Form
Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor ORPHA:309288
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Wilson Disease
Failure to thrive, Hepatitis, Kayser-Fleischer ring, Acute hepatitis, Hepatic steatosis, Splenome... ORPHA:905
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Cystinosis, Nephropathic
Male hypogonadism, Polydipsia, Failure to thrive, Cerebral atrophy, Growth delay, Failure to thri... OMIM:219800
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... ORPHA:53035
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Citrullinemia Type Ii
Lethargy, Mania, Tremor ORPHA:247585
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Lethargy, Cerebral palsy OMIM:210210
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Osteootohepatoenteric Syndrome
Anemia, Weight loss, Failure to thrive, Dehydration OMIM:619377
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Difficulty walking, Inability to walk, Limb ataxia... OMIM:617675
Immunodeficiency 10
Hypoplasia of the iris, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenome... OMIM:612783
Rett Syndrome, Congenital Variant
Spasticity, Seizure, Chorea, Reduced social reciprocity, Apraxia, EEG abnormality, Pachygyria, At... OMIM:613454
Microphthalmia, Lenz Type
Iris coloboma, Cataract, Microcornea, Hydroureter, Chorioretinal coloboma, Camptodactyly of finge... ORPHA:568
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... ORPHA:513456
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Amyloidosis, Finnish Type
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... OMIM:105120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Severe short stature, Spasticity, Wide nasal bridge, Cerebellar atrophy,... ORPHA:468631
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Small scrotum, Central hypothyroidism, Xerostomia, Hyp... ORPHA:398069
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Renal insufficiency, Pulmonary lymphangiectasia, Hypoparathyroidism OMIM:247410
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Bilateral tonic-clonic seizure on awakening, Aspiration pneumonia, Increased ci... ORPHA:438213
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
8P11.2 Deletion Syndrome
Iris coloboma, Microcornea, Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotr... ORPHA:251066
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Recurrent otitis media, Mitral regurgitation, Sinus bradycardia, Aggress... OMIM:261990
Progressive Supranuclear Palsy
Blepharospasm, Depression, Bradykinesia, Tremor, Rigidity, Apathy, Dystonia ORPHA:683
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Xerostomia, Keratitis, Oral-pharyngeal dysphagia... ORPHA:95455
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Abnormality of the Leydig cells, Testicular atrophy, Inability to walk, Bu... ORPHA:3063
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros... OMIM:243605
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Self-injurious behavior, Myoclonic seizure, Gait disturbance OMIM:620469
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Chorioretinal coloboma, Optic disc coloboma, Renal ins... ORPHA:1454
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Cachexia, Weight loss, Glomerulopathy... ORPHA:77297
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Microvillus Inclusion Disease
Dehydration, Hypovolemia ORPHA:2290
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Umbilical hernia, Cholestasis, Portal hyperte... OMIM:610199
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hepatomegaly, Jaundice, In... OMIM:614866
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Abnormality of thyroid physiology, Growth delay, Dehydration ORPHA:411629
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Failure to thrive, Micronodular cirrhosis, Pancytopenia, ... OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Sialuria
Wide nasal bridge, Cholelithiasis, Seizure, Hepatosplenomegaly, Hyperkinetic movements, Attention... ORPHA:3166
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Skeletal muscle atrophy, Kyphosis, Seizure, Difficulty ... ORPHA:90324
Cutis Laxa, Autosomal Recessive, Type Ic
Wide nasal bridge, Accessory spleen, Recurrent pneumonia, Ascites, Hypoplasia of the thymus, Adre... OMIM:613177
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid... ORPHA:432
Holocarboxylase Synthetase Deficiency
Lethargy, Hypertonia OMIM:253270
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Mild postnatal growth retardation, Short stature, Growth delay, De... ORPHA:47159
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent... OMIM:612716
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi... ORPHA:294
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Umbilical hernia, Supernumerary nipple, Congenital diap... OMIM:312870
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Intrauterine growth retardation, Myoclonus ORPHA:1352
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy, Seizure ORPHA:85323
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Allergic rhinitis, Allergic conjunctivitis, Delayed puberty, Short stature... OMIM:176690
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Pa... ORPHA:79083
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Decreased muscle mass, Neurodegeneration, Obsessive-compulsive trait, Myopathy, Parki... OMIM:234200
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Incoordination, Abnormality ... OMIM:601992
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Cystic Fibrosis
Nasal polyposis, Recurrent pneumonia, Failure to thrive, Hepatosplenomegaly, Chronic sinusitis, P... OMIM:219700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ascites, Inguinal hernia, Cryptorchidism, Splenomegaly, Hydronephros... OMIM:235255
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Lymphadenopathy, Thrombocyto... OMIM:617591
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, T... OMIM:226990
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Joint contracture of the hand, Chiari malformation, Interphalangea... ORPHA:1826
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Chops Syndrome
Cataract, Optic atrophy, Horseshoe kidney, Obesity, Vesicoureteral reflux, Splenomegaly, Cryptorc... OMIM:616368
Illum Syndrome
Bradycardia OMIM:208155
Hurler-Scheie Syndrome
Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in urine, Contracture of the... OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Preus Type
Seizure, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hype... ORPHA:2720
Tetraamelia-Multiple Malformations Syndrome
Cataract, Multicystic kidney dysplasia, Microcornea, Optic atrophy, Cryptorchidism, Vaginal atres... ORPHA:3301
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Failure to thrive, Increased he... OMIM:278000
Treacher-Collins Syndrome
Blepharospasm, Choanal atresia, Wide nasal bridge, Failure to thrive, Cryptorchidism, Hypoplasia ... ORPHA:861
Meckel Syndrome
Accessory spleen, Asplenia, Multicystic kidney dysplasia, Microcornea, Cataract, Optic atrophy, C... ORPHA:564
48,Xxxy Syndrome
Small scrotum, Seizure, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Cryptorchi... ORPHA:96263
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophil... ORPHA:39041
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Spasticity, Cholecystitis, Macrocytic anemia, Splenomegaly, Tr... OMIM:615512
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Spinal arteriovenous malformation, Kyphoscoliosis, Parapares... ORPHA:53721
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Seizure, Aspiration pneumonia, Difficulty walking, Sinus bradycardia, Dysphagia OMIM:619482
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hypogonadism, Tremor, Ataxia ORPHA:79095
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Wolman Disease
Ascites, Splenomegaly, Cachexia, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Dengue Fever
Lethargy ORPHA:99828
Meningococcal Meningitis
Lethargy ORPHA:33475
Young-Onset Parkinson Disease
Spasticity, Depression, Bradykinesia, Tremor, Rigidity, Apathy, Dystonia ORPHA:2828
Orofaciodigital Syndrome Iii
Bulbous nose, Myoclonus OMIM:258850
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psoriasiform dermatitis, Au... ORPHA:436252
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Focal myoclonic seizure, Dysmetria, Abnormal pyramidal sign, Abnormal... ORPHA:314647
Xq21 Microdeletion Syndrome
Seizure, Decreased response to growth hormone stimulation test, Postnatal growth retardation, Obe... ORPHA:1435
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Atax... ORPHA:25
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresth... ORPHA:682
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Lethargy, Frequent falls ORPHA:746
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Decreased testicular size, Obesity, Aniridia, Ne... OMIM:612469
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Pedal edema, Sinus bradycardia OMIM:126320
Bartter Syndrome Type 4
Failure to thrive, Hyperaldosteronism, Clumsiness, Severe failure to thrive, Polyhydramnios, Hype... ORPHA:89938
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Porphyria, Acute Intermittent
Seizure, Paresthesia, Respiratory paralysis, Paralysis, Reduced erythrocyte porphobilinogen deami... OMIM:176000
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Van Esch-O'Driscoll Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Unilateral vocal cord paralysis, Motor... OMIM:301030
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Short neck, Lumbar kyphos... OMIM:253000
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Renal hypoplasia, Splenomegaly, Nephroblastoma OMIM:612918
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Eec Syndrome
Choanal atresia, Xerostomia, Keratitis, Decreased response to growth hormone stimulation test, An... ORPHA:1896
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Limb hypertonia OMIM:620306
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Pontocerebellar Hypoplasia Type 7
Wide nasal bridge, Depressed nasal bridge, Involuntary movements, Spasticity, Seizure, Fasciculat... ORPHA:284339
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Cataract, Abnormality of the ovary, Decreased testicular size, Obesity, Vaginal... OMIM:209900
Bartter Syndrome, Type 3
Hypotension, Hyperaldosteronism, Hyperactive renin-angiotensin system, Dehydration, Increased cir... OMIM:607364
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Myoclonic seizure, Generalize... OMIM:620330
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Failure to thrive, Hepatitis, Splenomegaly, ... OMIM:613812
Trichinellosis
Hemiplegia, Hemiparesis, Babinski sign, Lethargy, Apathy ORPHA:863
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Optic atrophy, Renal artery stenosis... OMIM:617913
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno... OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascu... OMIM:617388
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Joint contracture of the hand, Vertebral wedging, Hyperconvex vertebral body endpl... ORPHA:1159
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Solitary Bone Cyst
Abnormal form of the vertebral bodies, Muscular edema, Abnormal spinal cord morphology, Back pain ORPHA:83468
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Multiple Sulfatase Deficiency
Splenomegaly, Retinal degeneration, Mucopolysacchariduria, Corneal opacity, Hepatomegaly OMIM:272200
Transcobalamin Ii Deficiency
Lethargy, Ataxia OMIM:275350
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Episodic ataxia, Ataxia OMIM:311250
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Umbilical hernia, Labial hypertrophy, Reduced subcutaneous adipose tissue, ... OMIM:608594
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Dehydr... OMIM:259900
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly OMIM:230800
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Cerebellar hypoplasia, Platyspondyly, Hydrocephalus ORPHA:163966
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Biotinidase Deficiency
Lethargy, Ataxia OMIM:253260
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Pancreatic hypoplasia, Retroperitoneal fibrosis, Camptodactyly of finger, Elbow fl... OMIM:602782
Cog2-Cdg
Small pituitary gland ORPHA:435934
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea... OMIM:305620
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Inflammatory abnormality of the skin,... OMIM:102700
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Spastic paraplegia, Cerebral cortical atrophy, Chiari malformation, Cerebellar atr... ORPHA:309282
Monosomy 18Q
Seizure, Kyphoscoliosis, Cerebellar hypoplasia, Hydrocephalus, Atlantoaxial abnormality, Poor coo... ORPHA:1600
Cirrhosis, Familial
Lethargy OMIM:215600
Seckel Syndrome 7
Hypoplasia of the uterus, Seizure, Primary amenorrhea OMIM:614851
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
Citrullinemia, Classic
Lethargy, Ataxia OMIM:215700
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Acrofacial Dysostosis, Cincinnati Type
Recurrent otitis media, Cryptorchidism, Decreased body weight, Dysphagia, Short nose, Choanal atr... OMIM:616462
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Incoordination, Lethargy OMIM:277380
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Weight loss, Splenomegaly ORPHA:33577
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Splenomegaly, Cirrhosis, Achol... OMIM:607765
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Tyrosinemia Type 2
Seizure, Tremor, Ataxia ORPHA:28378
Keppen-Lubinsky Syndrome
Recurrent pneumonia, Failure to thrive, Seizure, Narrow naris, Underdeveloped nasal alae, Postnat... ORPHA:435628
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Abnormality of the v... ORPHA:239
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Anemia, Ga... OMIM:214500
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia,... ORPHA:169090
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Cockayne Syndrome A
Cataract, Atypical scarring of skin, Optic atrophy, Pigmentary retinopathy, Failure to thrive, Re... OMIM:216400
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chronic Visceral Acid Sphingomyelinase Deficiency
Apraxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Mucopolysacchariduria, Corne... ORPHA:584
Cockayne Syndrome
Lentiglobus, Reduced subcutaneous adipose tissue, Cryptorchidism, Cachexia, Hepatomegaly, Urinary... ORPHA:191
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, H... ORPHA:131
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Umbilical hernia, Labial hypertrophy, Elevated hemoglobin A1c, Reduced subc... OMIM:269700
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Hemiparesis OMIM:620233
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Broad-based gait, Abnormal temper tantrums, Limb atax... ORPHA:2072
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle atr... ORPHA:2463
Isolated Biliary Atresia
Periportal fibrosis, Failure to thrive, Hypopituitarism, Atretic gallbladder, Cholestasis, Spleno... ORPHA:30391
Biotinidase Deficiency
Lethargy, Spastic paraparesis, Ataxia ORPHA:79241
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Broad-based gait, Typical absence seizure, Seizure, Febrile seizure (within the age range... ORPHA:268261
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Fraser Syndrome 2
Hypoplasia of the thymus, Oligohydramnios, Underdeveloped nasal alae, Wide nose OMIM:617666
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Posterior embryotoxon, Cirrhosis, Duplicated collecting system, Re... OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Spinal cord compression, Waddling gait... ORPHA:94068
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Trem... OMIM:613179
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyur... OMIM:239200
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, EEG ab... ORPHA:1675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Cryptorchidism, Tremor, Neonatal death, Ataxia, Hypospadias, Intenti... OMIM:614052
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:183900
Metachromatic Leukodystrophy
Progressive spasticity, Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturba... ORPHA:512
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Prominent nasal... ORPHA:522077
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Ce... OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, Seizure, Cerebellar dysplasia, Myoclonus, Cerebellar hypoplasia, Cerebellar cyst, Sho... OMIM:253280
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Microcornea, Pigmentary retinopathy, Failure to thrive,... OMIM:133540
Glioblastoma
Paralysis, Seizure ORPHA:360
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy ORPHA:230800
Doors Syndrome
Wide nasal base, Wide nasal bridge, Broad nasal tip, Aspiration pneumonia, Bulbous nose, Antevert... ORPHA:79500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Abnormal B cell morphology, Broad nasal tip, Decreased response to growth... OMIM:618223
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... ORPHA:1571
Fg Syndrome Type 1
Broad-based gait, Seizure, Slender build, Cryptorchidism, Hypospadias, Abnormal social behavior ORPHA:93932
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Isolated Complex I Deficiency
Lethargy, Ataxia ORPHA:2609
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Truncus Arteriosus
Aortic regurgitation, Intrauterine growth retardation, Abnormal heart valve physiology, Pulmonary... ORPHA:3384
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Mediastinal lymphadenopathy, Adrenocortical ad... ORPHA:139411
Hydranencephaly
Opisthotonus, Lethargy, Spastic diplegia ORPHA:2177
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Pineoblastoma
Paralysis, Lethargy ORPHA:251909
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Failure to thrive, Uterine rupture, Hypoplasia of the ir... ORPHA:649
Familial Hypoaldosteronism
Lethargy ORPHA:427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Babinski sign, Lethargy, Ataxia OMIM:252010
Argininosuccinic Aciduria
Lethargy, Ataxia OMIM:207900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Dural ectasia, Chiari malformation, Spondylolisthesis, Hydrocephal... OMIM:609192
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... ORPHA:2020
Gitelman Syndrome
Polydipsia, Seizure, Paresthesia, Rhabdomyolysis, Paralysis, Salt craving, Ataxia OMIM:263800
3Mc Syndrome 2
Abnormal vertebral morphology, Hypoplasia of the musculature, Caudal appendage, Abnormality of th... OMIM:265050
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
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
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ... ORPHA:167
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Spasticity, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm, Rigidity, Hyperton... ORPHA:2636
Glycine Encephalopathy
Lethargy ORPHA:407
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
African Trypanosomiasis
Involuntary movements, Myelitis, Myelopathy, Somatic sensory dysfunction, Seizure, Fasciculations... ORPHA:3385
Brachyolmia Type 3
Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis OMIM:113500
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Conjunctivitis, Corneal... OMIM:263700
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea, Hypospadias OMIM:615877
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Aicardi-Goutières Syndrome
Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Extrapyramidal muscular ri... ORPHA:51
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Pigmentary retinopathy, Congenital... OMIM:309801
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy ORPHA:228371
Atelis Syndrome 2
Anemia, Developmental cataract, Thrombocytopenia, Remnants of the hyaloid vascular system OMIM:620185
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni... OMIM:249100
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Tricuspid regurgitation, Bulbous nose, Oligohydramnios, Pulmonary arteria... OMIM:614437
Monosomy 22
Hepatosplenomegaly, Joint swelling, Aplasia of the thymus, Seborrheic dermatitis, Hypertonia, Hyp... ORPHA:96123
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Seizure, Cerebral atrophy, Hemiplegia, Rigidity, Hemipares... ORPHA:2396
Andersen-Tawil Syndrome
Periodic hypokalemic paresis, Seizure, Periodic hyperkalemic paralysis, Periodic paralysis, Scoli... ORPHA:37553
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Typical absence seizure, Impaired pain sensation, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Typical absence seizure, Impaired pain sensation, Seizure ORPHA:352665
Microphthalmia, Syndromic 2
Iris coloboma, Microcornea, Umbilical hernia, Septate vagina, Cryptorchidism, Contracture of the ... OMIM:300166
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Aut... ORPHA:227982
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Spasticity, Chiari malformation, Generalized non-motor (absence) seizure, Generalized-onset seizu... ORPHA:500150
Isolated Anencephaly
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy... OMIM:611881
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Renal agenesis, Adrenal gland agenesis, Congenital diaphragm... OMIM:273395
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Short stature, Abnormal pituitary gland morphology ORPHA:314621
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Cataract, Optic atrophy, Horseshoe kidney, Decreased testicular size... OMIM:305000
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct... OMIM:269200
Wilson Disease
Kayser-Fleischer ring, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypoparathyroidism, Jaundice, ... OMIM:277900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Late-Onset Isolated Acth Deficiency
Lethargy ORPHA:199299
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Inguinal hernia, Cryptorchidism, Hypoplasia ... ORPHA:2250
Posterior Urethral Valve
Lethargy ORPHA:93110
Woodhouse-Sakati Syndrome
Decreased testicular size, Abnormality of extrapyramidal motor function, Hypogonadotropic hypogon... OMIM:241080
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive OMIM:619151
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Semilobar Holoprosencephaly
Spasticity, Depression, Abnormal central motor function, Limb dystonia, Lethargy, Apathy, Oromoto... ORPHA:220386
Alobar Holoprosencephaly
Spasticity, Depression, Abnormal central motor function, Limb dystonia, Lethargy, Apathy, Oromoto... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Depression, Abnormal central motor function, Limb dystonia, Lethargy, Apathy, Oromoto... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Depression, Abnormal central motor function, Limb dystonia, Lethargy, Apathy, Oromoto... ORPHA:93924
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral tonic-clonic seizure OMIM:612474
Supranuclear Palsy, Progressive, 1
Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Parkinsonism, Apathy, Bradykinesia,... OMIM:601104
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Absent nipple, Bilateral choanal atre... OMIM:620186
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Iris coloboma, Hypoplasia of the blad... OMIM:249000
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
Plague
Inflammation of the large intestine, Lymphadenitis, Arrhythmia, Acute infectious pneumonia, Eryth... ORPHA:707
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Hydranencephaly, Seizure, Inability to walk, Limb hypertonia, Gliosis, Bilateral toni... OMIM:620371
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Proteinuria, Perito... ORPHA:342
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea OMIM:146255
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Gaucher Disease
Aortic valve calcification, Pancytopenia, Cirrhosis, Ataxia, Hepatomegaly, Cholelithiasis, Abnorm... ORPHA:355
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Biliary cirrhosis, Female in... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Biliary cirrhosis, Female in... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Biliary cirrhosis, Female in... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Biliary cirrhosis, Female in... ORPHA:881
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Primary Fanconi Renotubular Syndrome
Weight loss, Growth delay, Dehydration ORPHA:3337
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Spasticity, Seizure, Epileptic spasm, Kyphoscoliosis, Chiari type I ma... ORPHA:798
Bosma Arhinia Microphthalmia Syndrome
Cataract, Inguinal hernia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia major... OMIM:603457
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Sotos Syndrome
Cerebellar vermis hypoplasia, Generalized myoclonic seizure, Generalized non-motor (absence) seiz... ORPHA:821
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Conjunctivitis, Parotitis, Cholestasis, Hepatosplenomegaly, ... OMIM:620376
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Chiari malformation, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscolio... OMIM:271510
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Weight loss, Tubulointerstitial nephritis, Aminoacid... ORPHA:91500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233710
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Autoimmune Polyendocrinopathy Type 4
Thymoma, Type I diabetes mellitus, Xerostomia, Anterior pituitary dysgenesis, Central diabetes in... ORPHA:227990
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Weight loss, Lymphadenopathy, Anemia, Nephrotic s... ORPHA:29073
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma OMIM:231005
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... OMIM:168000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Impaired pain sensation, Seizure, Ina... ORPHA:261537
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Microlissencephaly, Hypoplasia of the uterus, Simplified gyral pattern OMIM:617914
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosi... OMIM:233690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... ORPHA:276621
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Lower limb muscle weakness, Rhabdomyolysis, Tremor, Respiratory par... ORPHA:79102
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Thymus hyperplasia, Chylothorax, Cerebral atrophy OMIM:619036
Primary Sjögren Syndrome
Somatic sensory dysfunction, Seizure, Chorea, Abnormal cerebellum morphology, Myositis, Abnormal ... ORPHA:289390
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Midline central nervous system lipomas, Tubulonodular pericallos... OMIM:603671
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Impaired pain sensation, Seizure, Ina... ORPHA:2152
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem... ORPHA:3464
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Small for gestational age, Seizure, Generalized-onset seizure, Speech apraxia... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Small for gestational age, Seizure, Generalized-onset seizure, Speech apraxia... ORPHA:363958
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Anorexia, Decerebrate rigidity, Back pain ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Periodic paralysis, Periodic hypokalemic paresis, Scapular winging OMIM:170390
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland OMIM:620558
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Impaired pain sensation, Seizure, Ina... ORPHA:261552
Mend Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Seizure, Cryptorchidism, Limb hypertonia,... ORPHA:401973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Focal-onset seizure, Atonic seizure OMIM:617157
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Inhalational Botulism
Paralysis ORPHA:254504
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Prosta... ORPHA:449563
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Dominant Beta-Thalassemia
Hypoplasia of the musculature ORPHA:231226
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Scoliosis, Camptodactyly of finger ORPHA:1101
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Umbilical hernia, Blue irides, Remnants of the hyaloid vas... OMIM:619539
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Hypercalciuria, Weight loss, Gene... OMIM:181000
Czech Dysplasia
Platyspondyly, Intervertebral space narrowing, Irregular vertebral endplates, Waddling gait, Flex... OMIM:609162
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea ORPHA:785
Prader-Willi Syndrome Due To Translocation
Seizure, External genital hypoplasia, Obesity, Reduced social reciprocity, Hypogonadotropic hypog... ORPHA:177907
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Chromosome 17Q12 Deletion Syndrome
Seizure, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate ... OMIM:614527
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Exercise-Induced Malignant Hyperthermia
Lethargy, Ataxia ORPHA:466650
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Hypocalcemic seizures ORPHA:2237
Beta-Thalassemia Major
Hypoplasia of the musculature ORPHA:231214
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Abnormal spinal cord morphology, Vertebral ... ORPHA:1724
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the vertebral column, Myelomeningocele, Diastasi... ORPHA:2369
Tetrasomy 9P
Inappropriate behavior, Seizure, Myositis, Short neck, Abnormal spinal cord morphology, Dandy-Wal... ORPHA:3310
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Hypospadias, Micropenis, Disproportionate short-limb short stature OMIM:619479
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Diamond-Blackfan Anemia
Lethargy ORPHA:124
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Gitelman Syndrome
Polydipsia, Paresthesia, Rhabdomyolysis, Paralysis, Salt craving, Focal-onset seizure ORPHA:358
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Seizure, Aplasia of the vagina ORPHA:457284
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Cerebellar dysplasia, Multiple joint contractures, Lumbar scoliosis, Short neck, I... ORPHA:99646
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
Wolf-Hirschhorn Syndrome
Precocious puberty, Failure to thrive, Seizure, Cryptorchidism, Aplasia of the uterus, EEG abnorm... OMIM:194190
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Small for gestational age... OMIM:618419
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Seizure, Gait ataxia, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Aplasia of the epiglottis, Short neck, Molar tooth sign on MRI, Abnorma... ORPHA:434179
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea ORPHA:69085
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... OMIM:157170
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Williams Syndrome
Precocious puberty, Spasticity, Involuntary movements, Failure to thrive in infancy, Obesity, Gai... ORPHA:904
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Periodic hypokalemic paresis OMIM:259730
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Seizure OMIM:274000
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Stillbirth, Bifid uterus, Gr... OMIM:236680
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Scoliosis, Kyphosis, Scapular winging OMIM:278250
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Eisenmenger Syndrome
Lethargy ORPHA:97214
Tuberous Sclerosis Complex
Seizure, Epileptic spasm, Infantile spasms, Focal-onset seizure, Status epilepticus, Abnormal soc... ORPHA:805
Neu-Laxova Syndrome 1
Cryptorchidism, Neonatal death, Stillbirth, Bifid uterus, Lissencephaly OMIM:256520
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Pallister-Killian Syndrome
Small scrotum, Seizure, Inability to walk, Obesity, Cryptorchidism, Aplasia of the uterus, Hypopl... OMIM:601803
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Decreased response to growth hormone stimulation test, Cryptorchidism, Mic... OMIM:619503
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Peters-Plus Syndrome
Seizure, Cryptorchidism, Decreased body weight, Hypoplastic labia majora, Hypoplasia of the vagin... OMIM:261540
Okamoto Syndrome
Bifid uterus ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias ORPHA:286
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia ORPHA:709

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

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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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