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Gene: Aspa MGI:87914

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Gene Summary

Name:
aspartoacylase
Synonyms:
nur7,  aspartoacylase,  Acy2,  Acy-2,  small lethargic

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
abnormal lens morphology Aspatm1b(EUCOMM)Wtsi HOM   Early adult 5.53×10-05
decreased food intake Aspatm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-05
limb grasping Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.06×10-09
hyperactivity Aspatm1b(EUCOMM)Wtsi HOM Early adult 4.65×10-08
decreased startle reflex Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-06
abnormal cornea morphology Aspatm1b(EUCOMM)Wtsi HOM Early adult 2.01×10-08
decreased exploration in new environment Aspatm1b(EUCOMM)Wtsi HOM Early adult 5.39×10-05
corneal opacity Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.32×10-07
decreased prepulse inhibition Aspatm1b(EUCOMM)Wtsi HOM   Early adult 2.53×10-15
abnormal gait Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.06×10-06
increased fasting circulating glucose level Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.06×10-12
decreased vertical activity Aspatm1b(EUCOMM)Wtsi HOM Early adult 3.78×10-11
decreased grip strength Aspatm1b(EUCOMM)Wtsi HOM   Early adult 1.47×10-05
increased mean corpuscular volume Aspatm1b(EUCOMM)Wtsi HOM Early adult 1.48×10-05
increased circulating alkaline phosphatase level Aspatm1b(EUCOMM)Wtsi HOM Early adult 3.74×10-05
decreased locomotor activity Aspatm1b(EUCOMM)Wtsi HOM   Early adult 2.95×10-09

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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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Optic atrophy, Seizure, Decereb... ORPHA:314911
Mild Canavan Disease
Poor head control, Babinski sign, Hypotonia, Upper motor neuron dysfunction ORPHA:314918
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sign, Opisthot... OMIM:271900

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Basal ganglia gliosis, Chorea, Unste... OMIM:603218
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression, Gliosis, Neuronal lo... OMIM:143100
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dyst... ORPHA:98934
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair... ORPHA:217012
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, D... ORPHA:216873
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Ophthalmopares... OMIM:500003
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park... OMIM:607136
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Rigidity, Tremor, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Dysphagia, Depressi... OMIM:221820
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis ... ORPHA:248111
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Generalized muscle weakness, Choreoathetosi... ORPHA:98810
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, S... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Depression, Lo... OMIM:618369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inapprop... OMIM:619150
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Sydenham Chorea
Chorea, Unsteady gait, Irritability, Inappropriate behavior, Hemiballismus, Generalized hypotonia... ORPHA:306731
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... OMIM:208920
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... OMIM:302800
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Gl... OMIM:213200
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... OMIM:606777
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet... OMIM:616981
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Gliosis, Dysphagia OMIM:300857
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... OMIM:614895
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Weight loss, Dystonia, Cerebral cortica... OMIM:606438
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Distal muscle weakness, Paralysis, Distal sensory impairment, Difficulty walking, Lethargy, Muscl... OMIM:613710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ... OMIM:618279
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand... OMIM:618760
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Generalized muscle weakness, Hypo... OMIM:606703
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Poor head control, Involuntary movements, Chorea, Atrophy/Degeneration affect... OMIM:617493
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia... OMIM:618501
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Lateral ventricle dilatat... OMIM:221770
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Purkinje layer atrophy, Gait at... ORPHA:98756
Intellectual Developmental Disorder, Autosomal Recessive 58
Poor head control, Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis,... OMIM:617270
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D... OMIM:618317
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Porphyria, Acute Hepatic
Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Poor head control, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, ... ORPHA:13
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired distal proprioception, Imp... ORPHA:101097
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... OMIM:613811
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor head control, Ataxia, Increased neuronal autofluorescent lipopigment, Tr... ORPHA:79263
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired... ORPHA:101007
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... OMIM:615185
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... OMIM:620378
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Seizure, Lethargy, Failure to thrive, Cerebral cortical atrophy ORPHA:622
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per... OMIM:180800
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Weakness due to upper motor neuron dysfunction, Parkinsonis... ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... OMIM:606483
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Distal sensory impairment... OMIM:601098
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Apathy, Dystonia, Neuronal lo... OMIM:600795
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, S... OMIM:617065
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypo... OMIM:614254
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Developmental And Epileptic Encephalopathy 14
Clonus, Hypotonia, Tetraplegia, Gliosis, Generalized hypotonia, Spasticity, Neuronal loss in cent... OMIM:614959
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... OMIM:158590
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Chorea, Gait disturbance, Dysphagia OMIM:607674
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal py... OMIM:613135
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis, Self-injurious behavior... ORPHA:382
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea, Hypotonia, Generalized hypotonia OMIM:614055
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen... ORPHA:2932
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG... OMIM:600143
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Peripheral ... OMIM:607250
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... ORPHA:206594
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... ORPHA:508093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis... OMIM:615924
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depress... OMIM:619738
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Rigidity, Tremor, Chorea, Babinski sign, Dysphagia, Blephar... OMIM:606159
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention... OMIM:618876
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Segmental peripheral de... OMIM:145900
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... OMIM:615035
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Tetraplegia, Seizure, Hypertonia, Lethargy, Failure to thrive, A... OMIM:274270
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegi... OMIM:256600
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainst... ORPHA:99852
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... OMIM:607731
Null Syndrome
Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ... ORPHA:280234
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Paralysis, Oral-pharyngeal dysphagia, Hypotonia, Cerebral atrophy, Facial dip... OMIM:616286
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal muscle weakness, Paralysis, Distal sensory impairment, Distal upper limb muscle weakness, ... OMIM:605285
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Difficulty walking, Abnormal mye... ORPHA:401820
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, ... ORPHA:275864
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, Loss of ambulation, CNS demyelination,... OMIM:249900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis, Cerebral atrophy, Depression, Gliosis, ... OMIM:105550
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Infantile Dystonia-Parkinsonism
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... ORPHA:238455
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Dysmetria, Cerebra... OMIM:618088
Cln5 Disease
Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal central motor function, Ataxia,... ORPHA:228360
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Juvenile Amyotrophic Lateral Sclerosis
Neck flexor weakness, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia OMIM:615473
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Ophthalmoplegia, Bradykinesia, Lethargy OMIM:618683
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Neonatal hypotonia, ... OMIM:618557
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination OMIM:616684
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Impair... ORPHA:98755
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Axial hypotonia, Ataxia, Proximal muscle weakness, Unsteady gait, Hypotonia, ... OMIM:301020
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration OMIM:610951
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... ORPHA:99953
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... ORPHA:2589
Progressive Supranuclear Palsy
Impulsivity, Rigidity, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Blepharospasm,... ORPHA:683
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... ORPHA:66624
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... OMIM:611694
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Depression, Neurodegeneration, Dystonia, ... OMIM:615889
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Paresis of extensor mus... ORPHA:99947
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Foot dorsiflexor weakness, Ataxia, Small for gestational age, Babinski sign, Hypoton... OMIM:619054
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait di... OMIM:615643
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Lethargy, Facial palsy, E... OMIM:607483
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Hypotonia, Spastic tetraplegia, Athetosis, Self-injurious behavior, D... OMIM:619922
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:118200
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Cerebral hypomyelination, Seizure, CNS demyelination, Gait disturba... OMIM:603896
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... OMIM:619279
Charcot-Marie-Tooth Disease, Type 4H
Waddling gait, Decreased number of peripheral myelinated nerve fibers, Hypoesthesia, Unsteady gai... OMIM:609311
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Krabbe Disease
Diffuse cerebral atrophy, Hydrocephalus, Optic atrophy, Seizure, Hypertonia, Neurodegeneration, D... OMIM:245200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hypotonia, Hand tremor, Gait ataxia, Dysphagia, Atrophy/Deg... OMIM:617862
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... OMIM:302500
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Leukodystrophy, Lethargy, Spasticity OMIM:618225
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive OMIM:271930
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Seizure, Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia OMIM:618587
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... OMIM:311070
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity, He... ORPHA:101075
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro... OMIM:604168
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Dysphagia, Abnormal sensory nerve... ORPHA:276435
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia 1
Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Generalized hypotonia, Impai... OMIM:164400
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Hypotonia, Choreoathetosis, Athetosis, Failure to thrive OMIM:309541
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Dystonia,... OMIM:618224
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance, Seizure ORPHA:79283
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra... OMIM:604802
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism, Paralysis, Cerebral atrophy, Muscle we... OMIM:105500
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Dysphagia, Clumsiness,... OMIM:617282
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal atax... OMIM:615768
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:118220
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... OMIM:300983
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:616155
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Developmental And Epileptic Encephalopathy 41
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babi... OMIM:617105
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Ankle clo... OMIM:616657
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni... OMIM:301107
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Gait disturbance, My... OMIM:168601
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:616139
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Homocitrullinuria, Clonus, Poor coordination, Chorioretinal atrophy... OMIM:238970
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia... ORPHA:1368
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Poor head control, Spastic tetraparesis, Paralysis... OMIM:272750
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidi... OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystoni... OMIM:312170
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, EEG with photoparoxysmal response, Truncal ataxia, Limb ataxia, Choreoathetos... OMIM:616230
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Tremor, Prelingual sensorineural hearing im... ORPHA:52368
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, H... ORPHA:101078
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Lethargy, Failu... OMIM:250620
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Charcot-Marie-Tooth Disease, Type 4J
Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa... OMIM:611228
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Motor tics OMIM:615483
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive OMIM:618811
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Proximal muscle weakness, Chorea, Ophthalmoplegia,... ORPHA:401768
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... OMIM:619028
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... OMIM:204500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Eleva... OMIM:618387
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, G... OMIM:618090
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Poor head control, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Ti... ORPHA:280210
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Gliosis, Emo... OMIM:172700
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... OMIM:615157
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Hypotonia, Depression, Truncal obes... OMIM:300957
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Dysphagia, Gait disturban... OMIM:607822
Huntington Disease-Like 3
Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Abnormal pyramidal s... ORPHA:157946
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... OMIM:620158
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move... OMIM:619317
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Seizure, Axonal degeneration, Elevated circulating creatine kinase concentration OMIM:618138
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... OMIM:608340
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Depression, P... OMIM:169500
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Distal... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... OMIM:607706
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Depression, Pro... ORPHA:485350
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Optic atrophy, Seizure, Leukodystrophy, Brai... OMIM:618226
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressiv... OMIM:617225
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... ORPHA:206443
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:605588
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Leigh Syndrome
Ataxia, Ophthalmoplegia, Hypotonia, Gliosis, Generalized hypotonia, Dystonia, Emotional lability,... OMIM:256000
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Salt And Pepper Developmental Regression Syndrome
Hypotonia, Choreoathetosis, Irritability, Myoclonus, Failure to thrive, Global brain atrophy OMIM:609056
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Genera... ORPHA:251347
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Optic atrophy, Seizure, Decereb... ORPHA:314911
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Rigidity, Tremor, Babinski sign, Depression, Bradykine... ORPHA:314632
Mild Canavan Disease
Poor head control, Babinski sign, Hypotonia, Upper motor neuron dysfunction ORPHA:314918
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Peripheral demyelination, Distal sensory impairment ORPHA:99944
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Dyspha... ORPHA:70472
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dystonia OMIM:261630
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... OMIM:616269
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ... ORPHA:1935
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Neurofibrillary tangles, Chorea, Babinski sign, O... OMIM:610217
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Gaba-Transaminase Deficiency
Lethargy, Seizure, Agenesis of corpus callosum, Leukodystrophy OMIM:613163
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized... OMIM:614487
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Neurofibrillary tangles, T... OMIM:601104
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Myoclonus, Intractable, Neonatal
Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation OMIM:617235
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... OMIM:604218
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair... OMIM:607684
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hypotonia, Depression, Hyperkinetic movements, Upper limb spasticity, Gait di... ORPHA:457240
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Poor head control, Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hyper... OMIM:618451
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Hypotonia, Spastic tetraplegia, Gliosi... OMIM:612936
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain atrophy, Lethargy, Failu... OMIM:618228
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Optic atrophy, Sensory ataxia, Gait ataxia, ... OMIM:620221
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, Seizure, Gliosis OMIM:613002
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... ORPHA:79097
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia... OMIM:617916
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... OMIM:612319
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Choreoathetosis, Irritability, Dystonia, Spasticity OMIM:614249
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial... OMIM:618184
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired... OMIM:619574
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Impaired distal proprioception, Impaired pain sensation, Inability to wal... ORPHA:99948
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Seizure, Difficulty walking, Slender build, Ventriculomegaly OMIM:611087
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi... ORPHA:411602
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Generalized-onset seizure, Ce... OMIM:611523
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Involuntary movements, Decreased number... OMIM:271245
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity OMIM:225753
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Rabies
Cerebral palsy, Anorexia, Depression, Paresthesia, Attention deficit hyperactivity disorder, Voca... ORPHA:770
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... ORPHA:95
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Generalized hypotonia, Progressive spasticity, ... ORPHA:845
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria... OMIM:610185
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus, Hearing impairment OMIM:159800
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Progressive spastic paraparesis, Hoffmann ... ORPHA:206448
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Low-... OMIM:618718
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelination, Hand parest... OMIM:162500
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Ataxia OMIM:613402
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Agenesis of corpus ... ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Glycine Encephalopathy 1
Lethargy, Seizure, Agenesis of corpus callosum, Myoclonus OMIM:605899
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial dip... OMIM:616287
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Progressive proximal muscle weakness, Cerebral atrophy, Hyperkinetic movements, Difficult... ORPHA:369847
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... ORPHA:100973
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes OMIM:614018
Charcot-Marie-Tooth Disease, Type 4D
Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal... OMIM:601455
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... ORPHA:98764
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Seizure, Hypertonia, Dystonia, Lethargy, Failure to thrive ORPHA:26792
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized hypotonia, Paroxysmal dyskinesia ORPHA:79137
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro... OMIM:615838
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failur... OMIM:236270
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Delayed peripheral ... ORPHA:464282
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... ORPHA:329284
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... ORPHA:71211
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism, Depression OMIM:616413
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Generalized hypotonia, Spasticity, Cerebellar vermis atrophy OMIM:617931
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity, External ophthalmoplegia OMIM:312840
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... ORPHA:71517
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Metachromatic Leukodystrophy
Bulbar palsy, Ataxia, Chorea, Babinski sign, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait di... OMIM:250100
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... OMIM:300894
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... ORPHA:3115
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Ophthalmoplegia, Spas... OMIM:618321
3-Methylglutaconic Aciduria, Type Ix
Clonus, Aggressive behavior, Hypotonia, Cerebral atrophy, Choreoathetosis, Hypertonia, Generalize... OMIM:617698
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... OMIM:301008
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Severe... ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu... OMIM:619405
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin... OMIM:616756
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia, Dystonia OMIM:104290
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Neurofibrillary tangles, Tremor, Rigidity,... OMIM:137440
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears... OMIM:618598
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Disin... OMIM:608907
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... OMIM:619470
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... OMIM:617691
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Birk-Aharoni Syndrome
Axial hypotonia, Inability to walk, Chorea, Spastic tetraplegia, Failure to thrive OMIM:620071
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio... OMIM:609033
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Rigidity, Tremor, Dysphagia, Ch... OMIM:261640
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Cer... OMIM:617435
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait a... ORPHA:225147
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal muscle weakness, Vocal cord paralysis, Lower limb muscle weakness OMIM:607641
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Irritability, Hyper... OMIM:617864
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Bab... ORPHA:157846
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Dysph... OMIM:210000
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Lateral ventricle dilatati... ORPHA:306669
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Rigidity, Tremor, Dysphagia, Choreoathetosis, Irritability, Hyperkinet... OMIM:233910
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... OMIM:617810
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Focal impaired awareness seizure, Astrocytosis OMIM:607341
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy, Dysphagia OMIM:618637
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis OMIM:614198
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Restless legs, Rigidity, Bradykinesia, Gait disturbance,... OMIM:616710
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic... OMIM:616034
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... OMIM:608105
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Proximal muscle weakness, Tremor, Gowers sign, Chorea, Hypotonia, ... OMIM:615673
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Spastic Paraplegia 86, Autosomal Recessive
Distal muscle weakness, Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathet... OMIM:619735
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Machado-Joseph Disease Type 3
Cerebellar atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial-lingual ... ORPHA:276244
Machado-Joseph Disease Type 1
Cerebellar atrophy, Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingua... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Progressive external ophthalmoplegia, Substantia nigra gliosis, Facial-lingua... ORPHA:276241
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Lateral ventricle dilatati... OMIM:607596
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... ORPHA:431329
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Axial hypotonia, Poor head control, Chorea, Hypotonia, Bruxism, Spasticity OMIM:620149
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Bilateral tonic-clonic seizure, Atrophy of the s... ORPHA:395
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired ... OMIM:614409
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Elevated circulating creatine kinase concentration, Distal sensory impairment, Axonal loss, Stepp... OMIM:614455
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy... OMIM:617964
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ... ORPHA:478029
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... OMIM:616494
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Amyotrophic lateral sclerosis, Proximal muscle weakness in upper limbs, Ba... OMIM:613954
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Chorea, Benign Familial
Chorea OMIM:215450
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin... OMIM:616795
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... OMIM:616840
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Facial hypotonia, Ataxia, Rigidity, R... OMIM:300260
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Peripheral axonal neuropathy, Tremor, Inability to walk, Gait distur... ORPHA:101077
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding... OMIM:615284
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Distal muscle weakness, Tremor, Chorea, Impaired distal vibration sensation, ... OMIM:606002
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Hypotonia, Cerebral atrophy, Bruxism, Choreoathetosis, Hyperkinetic movements,... OMIM:618497
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Spinocerebellar Ataxia Type 3
Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, ... ORPHA:98757
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Hypotonia, Spastic tetraplegia,... OMIM:619847
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Chorea, Dysphagia, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia, Cere... OMIM:277470
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Pseudobulbar paralysis, Spasticity ORPHA:208441
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Frontotemporal cerebral atrophy, Choreoatheto... ORPHA:391417
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Bruxism, Hemiparesis, Self-injurious b... OMIM:618004
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Dysphagia, Tongue fas... ORPHA:276198
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia OMIM:128235
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Hypotonia, Myoclonus, Attention deficit hyp... OMIM:617600
X-Linked Intellectual Disability, Schimke Type
Poor head control, Failure to thrive in infancy, External ophthalmoplegia, Choreoathetosis, Infan... ORPHA:85285
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Seizure, Ataxia, Dystonia OMIM:246900
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer... OMIM:183086
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atr... ORPHA:79243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Developmental And Epileptic Encephalopathy 71
Gliosis, Hypotonia OMIM:618328
Dermoids Of Cornea
Corneal opacity OMIM:304730
De Sanctis-Cacchione Syndrome
Ventriculomegaly, Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Scissor gait, Opti... OMIM:278800
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Head tremor... OMIM:613724
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Cerebral atrophy, ... OMIM:612389
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Brown-Vialetto-Van Laere Syndrome 1
Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Generaliz... OMIM:211530
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus OMIM:618567
Glutaric Acidemia I
Rigidity, Delayed myelination, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Se... OMIM:231670
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Allan-Herndon-Dudley Syndrome
Poor head control, Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infan... ORPHA:59
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi... OMIM:619653
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... OMIM:608703
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Cl... OMIM:616127
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Hyperactivity, EEG with frontal focal spikes, Impulsi... ORPHA:98818
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, External ophthalmoplegia, Bruxism, Cerebral atrophy, Dysphagia, ... OMIM:619422
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Hypotonia, Muscle weakness, Periodic paralysis OMIM:170400
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Nasu-Hakola Disease
Chorea, Irritability, Disinhibition, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy ORPHA:2770
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis, Hypotonia OMIM:615119
Galactosialidosis
Corneal opacity ORPHA:351
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordinatio... ORPHA:309854
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy, Seizure OMIM:617900
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,... OMIM:616672
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Proximal muscle weakness, Hypotonia, Neurodegeneration, Gliosis, Generalized ... OMIM:616239
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Brain atrophy, Abnormal myeli... ORPHA:85179
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Ventriculomegaly, Axonal degeneration/regeneration, Tremor, Inabili... OMIM:218000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Axial hypotonia, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal... OMIM:614498
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Seizure, Leukody... OMIM:610532
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Osteoporosis, Clumsiness, Reduced bone m... ORPHA:79239
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Alg13-Cdg
Abnormal lateral ventricle morphology, Infantile spasms, Clumsiness, Decreased body weight, Globa... ORPHA:324422
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity, Failure to t... OMIM:616339
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Ankle clonus, Seizure, Lethargy, Spasticity, Failure to thrive ORPHA:247525
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Distal muscle weakne... OMIM:614298
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Delayed CNS myelination, Ataxia, Inability to walk, Dela... OMIM:617854
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Myoc... ORPHA:2382
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, S... OMIM:618241
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Hypotonia, Spastic tetraplegia, Choreoathetosis, Agitation, Ge... OMIM:300438
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Cerebellar atrophy, Waddling gait, Ataxia, Proximal muscle weakness, Tremor, Inab... OMIM:615356
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Parkinsonism, A... OMIM:200150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Sp... OMIM:300055
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia ORPHA:284271
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Agitation, Myoclonus, Disinhibition, A... ORPHA:1020
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Apathy, Ataxia, Cerebral atrophy OMIM:614116
Glioblastoma
Glioblastoma multiforme, Emotional lability, Muscle weakness, Paralysis ORPHA:360
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Leukodystrophy, Hypomyelinating, 2
Poor head control, Axial hypotonia, Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sig... OMIM:608804
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal ... ORPHA:280219
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, CNS demyelination, Spasticity, Perip... OMIM:272200
Developmental And Epileptic Encephalopathy 1
Poor head control, Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Cho... OMIM:308350
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Elevated circulating creatine kinase concentration, Trem... OMIM:159950
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Depression, Seizure,... ORPHA:909
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious b... OMIM:271980
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Inability to... ORPHA:199343
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Choreoathetosis, Seizure, Dystonia, Lethargy, Failure to thrive ORPHA:79312
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Muscle weakness ORPHA:820
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Leukodystr... OMIM:612438
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticit... OMIM:618238
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Failure to thrive, Ataxia OMIM:618951
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Gait ataxia, Impaired tandem gait, Limb ataxia, ... OMIM:117360
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Leukodys... OMIM:614299
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait... OMIM:616505
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Proximal muscle weakness, Chorea, Difficulty walking, Truncal ataxia, Infantile mu... ORPHA:369840
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Ba... ORPHA:98761
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Ophthalmop... ORPHA:1170
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Familial Acute Necrotizing Encephalopathy
Rigidity, Generalized muscle weakness, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis... ORPHA:88619
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, ... ORPHA:504476
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... ORPHA:726
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Foxg1 Syndrome
Inability to walk, Hypotonia, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Diffic... ORPHA:561854
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Delayed myelination, Temporal cortical atrophy, Sp... ORPHA:621
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Rigidity, Tremor, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Ga... OMIM:618877
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par... OMIM:604320
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Myoclonic seizure, Se... ORPHA:254913
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dystonia, Flexion contracture, Babinski sign, Spastic tetraplegia, Dysmetria,... OMIM:618404
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Impaired proprioception, ... ORPHA:352641
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Secondary micr... OMIM:617954
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Clumsiness, Depression, Progressive spastic quadriplegia, Progressive gait... ORPHA:309271
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... OMIM:118300
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor,... ORPHA:98771
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Seizure, Tetraparesis, Lethargy ORPHA:27
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, H... OMIM:617193
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Cerebellar atrophy, Elevated circulating creatine kinase concentra... ORPHA:168486
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Chorea, Generalized hypotonia, Dystonia OMIM:613970
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Proximal muscle weakness, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls OMIM:618416
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depres... OMIM:261600
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, D... ORPHA:254881
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Aggressive behavior, Impulsi... OMIM:607454
Leukodystrophy, Hypomyelinating, 4
Poor head control, Head titubation, Babinski sign, Spastic paraplegia, Hypotonia, Choreoathetosis... OMIM:612233
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Opt... ORPHA:254886
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethargy, Basal gang... OMIM:604377
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis, Hypotonia, Muscle weakness OMIM:620161
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Seizure, Increased body weight ORPHA:276608
Hypokalemic Periodic Paralysis
Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,... ORPHA:681
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Agenesis of corpus callosum, Small for gestational age, Mild fetal ventriculomegaly OMIM:610498
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Hemimegalencephaly
Hemiparesis, Oculomotor nerve palsy, Gliosis, Myoclonus ORPHA:99802
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Seizure, Lethargy, Spasticity, Failure to thrive ORPHA:2394
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Winchester Syndrome
Corneal opacity OMIM:277950
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, EEG abnormality, Athetosis, Hypertonia OMIM:617106
Combined Oxidative Phosphorylation Deficiency 13
Poor head control, Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Dystonia OMIM:614932
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Poor head control, Spastic tetraparesis, Poor coordinatio... ORPHA:391428
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Spinocerebellar Ataxia Type 21
Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Cyclic Vomiting Syndrome
Lethargy, Seizure, Ataxia OMIM:500007
Horner Syndrome, Congenital
Paralysis OMIM:143000
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia, Hearing impairment ORPHA:438134
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, O... OMIM:614867
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Ankle weakness, Respiratory ... ORPHA:600
Pontocerebellar Hypoplasia, Type 8
Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Gait ataxia, Hypertonia, Generalized h... OMIM:614961
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Harel-Yoon Syndrome
Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Dystonia OMIM:617183
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... OMIM:612164
Poliomyelitis
Bulbar palsy, Anorexia, Paralysis, Paraparesis, Inability to walk, Upper limb muscle weakness, Ir... ORPHA:2912
Mucolipidosis Iv
Dystonia, Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Infantile spasms, Tremor, Spasticity OMIM:278780
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysphagia, Progressive gait ataxia,... ORPHA:289494
Rasmussen Subacute Encephalitis
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency ... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Developmental And Epileptic Encephalopathy 46
Tremor, Cerebral atrophy, Hypsarrhythmia, Dysphagia, Limb hypertonia OMIM:617162
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Lissencephaly 4
Babinski sign, Seizure, Colpocephaly, Hypertonia, Agenesis of corpus callosum OMIM:614019
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... ORPHA:77299
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Hypotonia, Generalized hypotonia, Paralysis OMIM:612300
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Diaphragmatic paralysis, Hypotonia ORPHA:868
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Failure to thriv... OMIM:619556
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Dihydropyrimidinase Deficiency
Lethargy, Seizure, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Generalized hypotonia, Dysphagia OMIM:201550
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,... OMIM:609136
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Agi... OMIM:272300
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Small for gestational age, Hypoton... OMIM:214150
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity... OMIM:183090
D-Glyceric Aciduria
Chorea, Myoclonus, Brain atrophy, Infantile muscular hypotonia, Spasticity ORPHA:941
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Progressive hearing impairm... ORPHA:97229
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, A... ORPHA:369939
Sialidosis Type 2
Tremor, Splenomegaly, Corneal opacity, Ataxia ORPHA:87876
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Elevated circulating creatine ... ORPHA:544469
Tangier Disease
Peripheral axonal neuropathy, Hypertriglyceridemia, Impaired pain sensation, Impaired temperature... OMIM:205400
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... ORPHA:363400
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Axonal loss, ... OMIM:252150
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, D... OMIM:614153
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... OMIM:607485
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty wa... ORPHA:529665
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Bilateral tonic-clonic seizure, Gait imbalance, Elevated circulating creatine kinase co... OMIM:618120
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Depression, Paresthesia, CNS demyelinatio... ORPHA:221091
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Bilateral tonic-clonic seiz... ORPHA:42
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Seizure, Status epilepticus, Spasti... OMIM:614307
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... ORPHA:2388
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Ataxia, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Tetraparesis, Dystonia ORPHA:263410
Morquio Syndrome C
Corneal opacity OMIM:252300
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... ORPHA:411515
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Peripheral demyelination OMIM:616733
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Self-mutilation OMIM:308950
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... ORPHA:254930
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Cach Syndrome
Cerebellar atrophy, Dysmyelinating leukodystrophy, Atrophy/Degeneration affecting the brainstem, ... ORPHA:135
Lethal Infantile Mitochondrial Myopathy
Lethargy, Seizure ORPHA:254857
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Osteoporosis, Spastic tetraplegia, Myoclonus, Atrophy/Degeneration af... OMIM:619971
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... OMIM:614229
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Susac Syndrome
Somatic sensory dysfunction, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction ORPHA:838
Central Diabetes Insipidus
Depression, Weight loss, Seizure, Lethargy, Failure to thrive ORPHA:178029
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Seizure OMIM:237310
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... OMIM:617013
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Multifocal seizure... OMIM:617710
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Ataxia, Seizure OMIM:237300
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Hypotonia, Cerebral atrophy, Gliosis, Myoclonus, At... OMIM:614946
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Elevated circulating creatine kinase c... ORPHA:101082
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Hemiparesis, EEG abnormali... OMIM:604317
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Neck flexor weakness, Inability to walk, Chorea, Proxima... ORPHA:268
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... OMIM:128100
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... OMIM:615905
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Hearing impairment, Neurofibrillary tangles, Spasticity, Intention tremor OMIM:117300
Combined Oxidative Phosphorylation Defect Type 13
Poor head control, Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia... ORPHA:319514
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Infantile spasms, Severe demyelination of the white matter, Atrophy of the spinal cord, H... ORPHA:79282
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Febrile Infection-Related Epilepsy Syndrome
Focal-onset seizure, Lethargy ORPHA:163703
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Clonus, Aggressive behavior, Unsteady gait, Babinski sig... OMIM:617773
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Insulinoma
Tremor, Increased body weight, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy, Neu... ORPHA:97279
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... ORPHA:64753
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Abnormal autonomic nervo... OMIM:168600
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Poor head control, Axial hypotonia, Akinesia, Abnormal... OMIM:618249
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Seizure, Lethargy, Failure to thrive ORPHA:927
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seiz... ORPHA:289266
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Brain-Lung-Thyroid Syndrome
Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,... ORPHA:209905
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... ORPHA:168491
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Hypertonia, Lethargy, Bi... ORPHA:254892
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Hypotonia, Generalized hypotonia, Muscle weakness OMIM:300619
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Spastic Paraplegia 9B, Autosomal Recessive
Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para... OMIM:616586
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Alexander Disease
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, De... ORPHA:58
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Bruxism, Athetosis, Irritability, Generalized hypotonia, Dystonia, Neon... OMIM:613454
Idiopathic Intracranial Hypertension
Papilledema, Obesity, Depression, Focal sensory seizure with olfactory features, Lethargy ORPHA:238624
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:614381
Variegate Porphyria
Paralysis OMIM:176200
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Pallidal degeneration, Severe muscular hypotonia, Ataxia, Poor motor coordination,... ORPHA:25
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Gait dis... ORPHA:542310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Focal-onset seizure, Generalized non-motor (absence) seizure, As... ORPHA:258
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Rigidity, Tremor, Chorea, Episodic... ORPHA:2131
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Tremor, Babinski sign, Spastic paraplegia, Cerebral atro... ORPHA:83629
Propionic Acidemia
Osteoporosis, Hyperglycinuria, Cerebral atrophy, Dystonia, Lethargy, Failure to thrive, Limb hype... OMIM:606054
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Cerebral... OMIM:617804
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis... OMIM:245348
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep... ORPHA:401815
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Impai... ORPHA:99949
Lissencephaly, X-Linked, 2
Spasticity, Gliosis, Hypotonia, Generalized hypotonia OMIM:300215
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Adrenoleukodystrophy
Bulbar palsy, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neuro... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
16Q24.3 Microdeletion Syndrome
Astigmatism, Dysphagia, Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Seizure, Tongue fasciculations, Myoclonus, Lethargy, Ce... OMIM:614922
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Impaired distal proprioception, Abnormal brainstem MRI signal intensity, I... ORPHA:320365
Holocarboxylase Synthetase Deficiency
Lethargy, Seizure, Ataxia, Weight loss ORPHA:79242
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Involuntary movements, Infantile spasms, Cl... OMIM:620352
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... OMIM:614170
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Clonic seizure, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Overweight, Obesity... OMIM:619475
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis OMIM:613345
Leigh Syndrome
Cerebellar atrophy, Distal muscle weakness, Ataxia, Involuntary movements, Chorea, Upper motor ne... ORPHA:506
Developmental And Epileptic Encephalopathy 74
Choreoathetosis, Hypotonia OMIM:618396
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity... OMIM:619911
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia ORPHA:163985
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental peripheral demyelination/remy... ORPHA:255210
Cimdag Syndrome
Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atrophy, Dystonia, Spasticity OMIM:619273
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Ophthalmoparesis, Episodic flaccid weakness, Hyp... ORPHA:682
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... OMIM:248500
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Hyperglycinuria, Opisthotonus, Abnormality of extrapyramidal motor function... OMIM:605711
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Cystinosis
Corneal opacity, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Polyd... ORPHA:213
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Mcleod Syndrome
Chorea, Depression, Compulsive behaviors, Dystonia, Muscle weakness, Impaired vibration sensation... OMIM:300842
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia, Abnormal repet... OMIM:619435
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Spastic tet... OMIM:619913
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Cerebral cortical atrophy OMIM:618201
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han... OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607831
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,... ORPHA:415
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Gait disturbance, Dys... ORPHA:702
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Gait disturbance ORPHA:812
Pontocerebellar Hypoplasia Type 10
Spasticity, Hypertonia, Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Seizure, Elevated circulating creatine kinase concentration OMIM:619386
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Inability to walk,... OMIM:619580
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Ataxia, Spastic tetraparesis, Impulsivity, Unsteady gait, Abno... ORPHA:35069
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, EEG with generalized polyspikes, Ag... ORPHA:163681
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Lethargy, Hyperlysinuria OMIM:238750
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy, Ataxia, Head titubation, Abnormal brainstem morphology, Oculo... ORPHA:370022
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Type I diabetes ... ORPHA:290
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Maple Syrup Urine Disease
Lethargy, Hypertonia, Ataxia, Seizure OMIM:248600
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Hyp... OMIM:617988
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Hepatosplenomegaly, Depression ORPHA:309288
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy, Tetraparesis, Fa... ORPHA:255182
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Arm dystonia, N... ORPHA:79244
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing... OMIM:609727
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, S... OMIM:617664
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Rigidity, Tremor, Chorea, Lim... ORPHA:48818
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Optic atrophy, Paresthesia ORPHA:49827
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, EEG... ORPHA:1942
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Opis... OMIM:103050
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment OMIM:619473
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia OMIM:618222
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive OMIM:613561
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... OMIM:614104
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss of ambulation ORPHA:93399
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Truncal o... OMIM:301072
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability ORPHA:3198
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Intention tremor, Lethargy, Cere... ORPHA:616
Gm1-Gangliosidosis, Type Iii
Ataxia, Opacification of the corneal stroma, Dystonia OMIM:230650
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Spastic tetraplegia, Gliosis, Dystonia ORPHA:3240
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity ORPHA:317
Niemann-Pick Disease, Type C1
Ataxia, Neurofibrillary tangles, Dysphagia, Gait ataxia, Dystonia, Cataplexy, Spasticity, Neurona... OMIM:257220
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276556
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia ORPHA:281090
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia OMIM:618829
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Peripheral dysmyelination, Neuronal loss i... OMIM:260565
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Unsteady gait, Astrocytosis, Seizure, Difficulty... ORPHA:90324
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Poor head control, Facial hypotonia, Small for gestational age, Inability to ... ORPHA:404454
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Corneal opacity OMIM:166300
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Dystonia, Progressive sensorineu... OMIM:304700
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed CNS myelination, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Dystonia, C... OMIM:617668
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Seizure, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyeli... OMIM:612780
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei... ORPHA:70594
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... OMIM:612469
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276575
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Facial palsy, Anorexia, Paralysis, Tremor, Cogwhe... ORPHA:79139
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Abnormal pyramidal sign, Seizure, Lethargy, Failure to thrive OMIM:201470
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Uns... OMIM:616479
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Dys... ORPHA:458803
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... ORPHA:101071
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Small for gestational age, Ataxia, Generalized-onset seizure, Tremor, Partial agenesis ... OMIM:220111
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Failure to thrive ORPHA:28
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia, Failure to thrive, Seizure ORPHA:2089
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal muscle weakness, Proximal muscle weakness, Limb muscle weakness, Distal sensory impairment... OMIM:601152
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... ORPHA:98794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Status epilepticus, Hypoglycemic seizures, Large for gestational age ORPHA:276580
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait OMIM:620145
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Ogden Syndrome
Torticollis, Cerebral atrophy, Hypertonia, Shuffling gait, Lethargy, Ventriculomegaly ORPHA:276432
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Vocal cord paralysis, Distal ... ORPHA:99956
Wilson Disease
Aggressive behavior, Splenomegaly, Hypersexuality, Depression, Anemia, Kayser-Fleischer ring, Dif... ORPHA:905
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Seizure, Transient hyperlipidemia, Hemiplegia/hemiparesis ORPHA:156
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Small for gestational age, Hypoglycemic seizures, Large for gestational age ORPHA:324575
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,... OMIM:609541
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, G... ORPHA:98760
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Pigmentary ... OMIM:617675
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... OMIM:610042
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... ORPHA:75567
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c... OMIM:609924
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding... OMIM:618342
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... ORPHA:250972
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Seizure OMIM:610006
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Muscle weakness, Periodic paralysis OMIM:188580
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure, Abnormality of circula... ORPHA:3124
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Biotinidase Deficiency
Diffuse cerebral atrophy, Ataxia, Optic atrophy, Seizure, Lethargy, Diffuse cerebellar atrophy OMIM:253260
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Episodic Ataxia Type 1
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Osteoporosis ORPHA:79230
Paramyotonia Congenita Of Von Eulenburg
Neonatal hypotonia, Cold paresis, Periodic hypokalemic paresis, Dysphagia ORPHA:684
Crigler-Najjar Syndrome
Lethargy, Seizure ORPHA:205
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Joubert Syndrome 28
Joint laxity, Optic disc pallor, Ataxia, Oculomotor apraxia, Pigmentary retinopathy, Molar tooth ... OMIM:617121
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Brain ... OMIM:620327
Snijders Blok-Fisher Syndrome
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity OMIM:618604
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Dystonia ORPHA:357058
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Poor head control, Axial hypotonia, Ataxia, Small for ... OMIM:617799
Porphyria, Acute Intermittent
Paralysis, Depression, Respiratory paralysis, Paresthesia, Muscle weakness OMIM:176000
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Optic atrophy, Focal ... ORPHA:79241
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Cerebral atrophy, Lethargy, Failure to thrive, Homocystinuria OMIM:614857
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Lumbar hyperlordosis, Optic nerve hypoplasia, Clonus, Microcephaly, Hypoplasi... ORPHA:370959
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Multifocal seizures, Ataxia, Tremor, Delayed myelin... ORPHA:572798
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Seizure, Elevated circulating creatine kinase concentration OMIM:600649
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Spastic gait, Gait ataxia ORPHA:496790
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Multiple Acyl-Coa Dehydrogenase Deficiency
Poor head control, Proximal muscle weakness, Inability to walk, Hypotonia, Fatigable weakness of ... ORPHA:26791
Rheumatic Fever
Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations ORPHA:3099
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Tremor, Splenomegaly, Unsteady gait, Hep... ORPHA:354
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic ... OMIM:617296
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Depression, Gliosis, Ge... OMIM:124000
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
Tubulinopathy-Associated Dysgyria
Ataxia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology, Oculomotor apraxia, ... ORPHA:467166
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Abnormality of circulating enzyme level ORPHA:35706
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Generalized-onset seizure, Tremor, Hypoesthesia,... OMIM:619737
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Seizure, Focal impaired awareness seizure, Lethargy, Ventri... OMIM:620306
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Seizure, Elevated circulating creatine kinase concentration, Transient hyperlipidemia OMIM:255120
Meckel Syndrome 13
Ataxia, Oculomotor apraxia, Flexion contracture, Molar tooth sign on MRI, Retinopathy OMIM:617562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s... ORPHA:139396
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Generalized muscle weakness, Paresthesia, Polydipsia, Failure to... OMIM:263800
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, ... OMIM:618890
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Progressive muscle weakness, Unsteady gait, Neurodegeneration, Dyspha... OMIM:615919
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Aggressive behavior OMIM:606688
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Failure to thrive, Seizure, Opisthotonus OMIM:210200
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Failure to thrive in infancy OMIM:619064
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Spasticity, Hearing impairment ORPHA:457260
Pantothenate Kinase-Associated Neurodegeneration
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... ORPHA:157850
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Knee flexion contracture, Pontocerebell... OMIM:608799
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Tremor, Cystathioninuria, Pigmentary retinopathy, Abnormality of extrapyramidal mot... OMIM:277400
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Leukodystrophy, Lethargy, Failure to thrive ORPHA:2609
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Failure to thrive, Ataxia OMIM:201100
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Infantile spa... OMIM:618733
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Dysph... ORPHA:397744
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Cerebral cortical atrophy ORPHA:1192
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity, Type II diabetes mellitus ORPHA:61
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Delayed CNS myelination, Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callo... OMIM:619517
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Increased body weight, Seizure, Lethargy ORPHA:263455
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment OMIM:620114
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Spastic tetraplegia, Spastic dipleg... OMIM:616878
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Rigidity, Focal-onset seizure, Hydrocephalus, Optic atrophy, Spastic te... OMIM:618476
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Failure to thrive in infancy, Spastic tetraparesis, Delayed myelination, Seizure... ORPHA:284417
Band Heterotopia
Hydrocephalus, Seizure, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ve... OMIM:600348
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Babinsk... ORPHA:565624
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:98863
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Lower limb hypert... ORPHA:2524
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Lethargy ORPHA:95717
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... ORPHA:98853
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Limb tremor, Clumsiness, ... OMIM:105830
Riboflavin Deficiency
Lethargy OMIM:615026
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:212140
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Developmental And Epileptic Encephalopathy 100
Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, Gait ataxia, Choreoathetosis, Appendicular ... OMIM:619777
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Depression, Self-injurious behavior, Opacification of the corneal stroma, ... OMIM:601853
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... ORPHA:206436
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Impaired temperature sensation, Osteoporosis, Obesity, Chorioretinal hypopigmentation... ORPHA:398079
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Inability to walk, Atrophy of the... ORPHA:2822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... OMIM:615716
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Generalized-onset seizure, Small for gestational age, Optic nerve dysplasia, ... OMIM:614866
Meningococcal Meningitis
Lethargy, Papilledema, Paresthesia, Seizure ORPHA:33475
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Paraplegia, Limb ataxi... OMIM:105210
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Hypotonia, Self-injurious behavior, Gliosis, Failure to thrive ORPHA:261652
Hyperkalemic Periodic Paralysis
Episodic flaccid weakness, Periodic hyperkalemic paralysis OMIM:170500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Delayed CNS myelination, Cerebral palsy, Ataxia, Ventriculomegaly, Hydrocephalus, Optic atrophy, ... OMIM:619833
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Babinski sign, Seizure, Tip-toe gait, Lethargy, Frequent falls ORPHA:746
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Abnormal brainstem morphology, Ab... ORPHA:79279
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Generalized joint laxity, Dysmetria, Depr... ORPHA:502423
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal muscle weakness in upper limbs, Distal sensory impairment, Diaphragmatic weakness, Dista... OMIM:606071
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins... ORPHA:88644
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Seizure, Episodic ataxia, Lethargy, Failure to thrive OMIM:311250
Lesch-Nyhan Syndrome
Poor head control, Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, ... OMIM:300322
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, ... OMIM:252010
Joubert Syndrome 7
Retinal dystrophy, Brainstem dysplasia, Ataxia, Oculomotor apraxia, Hypoplasia of the brainstem, ... OMIM:611560
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Tics,... OMIM:617865
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti... ORPHA:314404
Scrub Typhus
Tremor, Lethargy, Seizure ORPHA:83317
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Senile plaques DECIPHER:48
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Den Hoed-De Boer-Voisin Syndrome
Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu... OMIM:619229
Citrullinemia, Classic
Lethargy, Failure to thrive, Ataxia, Seizure OMIM:215700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Hydrocephalus, Optic atrophy, Abnormal myelination ORPHA:352682
Hydranencephaly
Dysgenesis of the thalamus, Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic di... ORPHA:2177
Martsolf Syndrome 2
Lateral ventricle dilatation, Spastic diplegia, Brain atrophy, Decreased body weight OMIM:619420
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Impaired temperature sensation, Kyphosis, Flexion contracture, Osteoporosis, Increase... ORPHA:398069
Isovaleric Acidemia
Lethargy, Seizure OMIM:243500
Pseudo-Torch Syndrome 2
Lethargy, Lateral ventricle dilatation, Seizure, Ventriculomegaly OMIM:617397
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem mo... ORPHA:300573
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Autosomal Dominant Spastic Paraplegia Type 9A
Corpus callosum atrophy, Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyrami... ORPHA:447753
Ethylmalonic Encephalopathy
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr... ORPHA:51188
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hypertoni... OMIM:614969
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... ORPHA:445062
Pyruvate Carboxylase Deficiency
Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar gliosis, Delayed myelina... ORPHA:3008
Alzheimer Disease 2
Neurofibrillary tangles, Parkinsonism OMIM:104310
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Chromosome 18Q Deletion Syndrome
Broad-based gait, Failure to thrive in infancy, Tremor, Chorea, Poor coordination, Hypotonia, Gen... OMIM:601808
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Delayed CNS myelination, Failure to thrive OMIM:251000
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... ORPHA:3163
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Seizure, Colpocephaly, Ventriculomegaly ORPHA:2185
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus ... ORPHA:488627
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Fractures of the long bones, Paraparesis, Osteolysis, In... OMIM:602080
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Brain atrophy, Hearing impairment OMIM:278760
Slc35A2-Cdg
Cerebellar atrophy, Osteopenia, Limb joint contracture, Camptodactyly of finger, Failure to thriv... ORPHA:356961
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap... OMIM:617595
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Anemia, Iris hypopigmentation ORPHA:2719
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Seizure, Apathy, Myoclonus, Lethargy, Spasticity ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Seizure OMIM:618232
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Parkinsonism OMIM:104300
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Optic atrophy, Spasti... OMIM:617281
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Dysplastic corp... OMIM:619955
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Hemiparesis, Scoliosis, Fusion of... OMIM:617542
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epilepticus, Failure to thri... OMIM:618606
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Cerebral palsy, Opisthotonus, Seizure, Lethargy, Failure to thrive OMIM:210210
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Optic atrophy, Seizure, Lateral ventricle di... ORPHA:3078
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Delayed CNS myelination, Neurodegeneration, Ventriculomegaly OMIM:620210
Cockayne Syndrome A
Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal peripheral myelination, Tremor, Optic atr... OMIM:216400
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms, U... ORPHA:530983
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fr... OMIM:616977
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Dysmetria, Hepatosplenomegaly, Developmental cataract ORPHA:93400
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Small for gestational age, Progressive microcephaly, Lethargy, Failure to thr... OMIM:607143
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Angelman Syndrome
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Abnormal autonomic nervous... ORPHA:2828
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... OMIM:618527
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ventriculomegaly, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis... OMIM:617186
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Halperin-Birk Syndrome
Generalized-onset seizure, Inability to walk, Focal-onset seizure, Optic atrophy, Spastic tetrapl... OMIM:618651
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Vocal cord paralysis, Dysphagia, Myoclonus, Dystonia, Spasticity, Cerebral corti... ORPHA:500144
Nmda Receptor Encephalitis
Oculogyric crisis, Involuntary movements, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... ORPHA:217253
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Ophthalmoparesis, Episodic flaccid weakness, Weight loss... ORPHA:79102
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93476
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Ataxia OMIM:275350
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Progressive extrapyramidal movement disor... ORPHA:445038
Infantile Liver Failure Syndrome 2
Lethargy, Seizure OMIM:616483
Bardet-Biedl Syndrome 9
Polydipsia, Cataract, Astigmatism, Hyperglycemia, Polyphagia OMIM:615986
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Sensorineural hearing impairment, M... OMIM:607426
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Aggressiv... ORPHA:581
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp... ORPHA:760
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Small for gestational age, Tremor, Patchy demyelination ... OMIM:133540
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dysphagia OMIM:222300
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Scheie Syndrome
Corneal opacity OMIM:607016
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration OMIM:201475
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Febrile seizure (within the age range of 3 months t... ORPHA:1934
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Anorexia, Paralysis, T... ORPHA:297
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Generalized-onset seizure, Cerebral palsy, Infantile spasms, Focal-onset seizure, Delayed myelina... ORPHA:2148
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Incoordination, Small for gestational age, Cystathioninuria, Lethargy, Failure to thrive, Homocys... OMIM:277380
Argininosuccinic Aciduria
Lethargy, Failure to thrive, Ataxia, Seizure OMIM:207900
Encephalitis Lethargica
Tremor, Lethargy, Seizure, Parkinsonism ORPHA:83600
Neurotrophic Keratopathy
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... ORPHA:137596
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Osteoporosis, Weight loss, Arthritis, Apathy, Stiff interphalangeal joints, Leth... ORPHA:465508
Ddost-Cdg
Osteopenia, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive ORPHA:300536
Sneddon Syndrome
Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation OMIM:182410
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Failure to thrive, Seizure OMIM:251100
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Failure to thrive, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:609015
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... ORPHA:239
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Atrophy/Degeneration affecting... ORPHA:263487
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib... ORPHA:298
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decr... OMIM:618278
Familial Dysautonomia
Hyponatremia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal erosion, Gait disturban... ORPHA:1764
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... ORPHA:447788
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Nipah Virus Disease
Tremor, Myoclonus, Anorexia ORPHA:99825
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoglycemic seizures, Lethargy, Failure to thrive, ... ORPHA:71212
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, Clumsiness, Depressio... ORPHA:90674
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi... ORPHA:329478
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Fa... OMIM:268800
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive ... OMIM:607625
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking, Limb mus... ORPHA:100924
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Seizure, Elevated circulating creatine kinase concentration OMIM:212138
Malan Overgrowth Syndrome
Optic disc pallor, Seizure, Lateral ventricle dilatation, Episodic ataxia, Ventriculomegaly ORPHA:420179
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Lethargy ORPHA:95716
Semilobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Microceph... ORPHA:220386
Alobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Decreased response to growth hormone stimulation test, Microceph... ORPHA:93924
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Hypotonia, Muscle weakness OMIM:231680
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Sp... ORPHA:363722
Alg2-Cdg
Cerebral hypomyelination, Lateral ventricle dilatation, Seizure, Infantile spasms ORPHA:79326
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclon... OMIM:600721
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Seizure, Delayed CNS myelination, Infantile spasms, Colpocephaly OMIM:618731
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Seizure, Lethargy, Agenesis of corpus callosu... OMIM:608836
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H... OMIM:616271
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Seizure OMIM:201450
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Apathy ORPHA:178509
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Addictive behavior, Tip-toe ... ORPHA:512
Chronic Bilirubin Encephalopathy
Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Proximal 16P11.2 Microduplication Syndrome
Bipolar affective disorder, Congenital diaphragmatic hernia, Microcephaly, Tremor, Hemivertebrae,... ORPHA:370079
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Wilson Disease
Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... OMIM:277900
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr... ORPHA:268882
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Obes... OMIM:616267
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... ORPHA:477817
Amoebiasis Due To Free-Living Amoebae
Stiff neck, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Ataxia, Abnormal... ORPHA:68
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Optic atrophy, Gait d... ORPHA:90321
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Pain insensitivity, Ata... OMIM:256810
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia OMIM:184850
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Exaggerated startle response, Ventriculomegaly, Optic ... OMIM:615574
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Abnormal brainstem morphology, Reduced bone mineral density, Hypertonia ORPHA:2720
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Gait disturbance ORPHA:582
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria OMIM:618857
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Elevated circulating creatine kinase concentration, Leukopenia, Astigmatism, Thr... OMIM:301056
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Peroxisome Biogenesis Disorder 6A (Zellweger)
Seizure, Colpocephaly OMIM:614870
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Holocarboxylase Synthetase Deficiency
Lethargy, Hypertonia, Seizure OMIM:253270
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Partial agenesis of the c... ORPHA:300570
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Paralysis ORPHA:83601
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Anterior hypopituitarism, Abn... ORPHA:280195
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Optic nerve hypoplasia, Decreased response to growth hormone stimula... ORPHA:226307
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Multiple Sulfatase Deficiency
Splenomegaly, Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Seizure ORPHA:79095
Glutamine Deficiency, Congenital
CNS hypomyelination, Subependymal cysts, Seizure, Lateral ventricle dilatation, Brain atrophy OMIM:610015
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... OMIM:619680
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... ORPHA:521426
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Duplication Of The Pituitary Gland
Lower limb spasticity, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of j... ORPHA:314621
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Adrenocorticotropic hormone deficiency, Generalized bone demineralization, Wei... ORPHA:199299
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Ophthalmoplegia, Spastic paraplegia, Limb ataxia, Appendic... ORPHA:2072
Evans Syndrome
Lethargy ORPHA:1959
Hyperlysinemia
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Cockayne Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Axial hypotonia, Ataxia, Cachexia, Action tremor... ORPHA:191
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, Cognitive impairment, Posterior embryotoxon ORPHA:912
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated creatine kinase after exercise, Seizure ORPHA:159
Histiocytoid Cardiomyopathy
Hydrocephalus, Optic atrophy, Seizure, Hemiplegia, Lethargy, Failure to thrive, Agenesis of corpu... ORPHA:137675
Incontinentia Pigmenti
Cataract, Corneal opacity, Eosinophilia, Keratitis, Gait disturbance, Attention deficit hyperacti... ORPHA:464
Pettigrew Syndrome
Aggressive behavior, Hypotonia, Gait ataxia, Choreoathetosis, Self-injurious behavior, Spasticity... OMIM:304340
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cerebral cortical atrophy, Spasticity, Myoclonus ORPHA:309155
Alzheimer Disease 4
Neurofibrillary tangles, Apraxia, Senile plaques OMIM:606889
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Small for gestational age, Hypotonia, Cerebral atrophy, Dysphagia, Ch... OMIM:615471
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy, Aggressive beh... ORPHA:268261
Rift Valley Fever
Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Gliosis, Neonatal hypotonia, Failure to t... OMIM:261515
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Le... ORPHA:99832
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Fai... ORPHA:261197
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Poor head control, Facial palsy, Abnormal repetitive mannerisms, Hypotonia, Bruxis... OMIM:615873
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Failure to thrive, Seizure ORPHA:79284
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Seizure OMIM:229700
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Flexion contracture of finger, Optic disc pallor, Small for gestational age, ... ORPHA:464311
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... ORPHA:1830
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Hy... ORPHA:506358
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dyspha... OMIM:254900
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Limb hyper... OMIM:614219
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia ORPHA:438216
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Axial hypotonia, Large for gestational age, Hypotonia, Upper limb spastici... OMIM:300868
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty... OMIM:610978
Joubert Syndrome 3
Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Joubert Syndrome 6
Ataxia, Oculomotor apraxia, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, ... OMIM:610688
Joubert Syndrome With Renal Defect
Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia, Agenesis of corpus ... ORPHA:220497
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Depression, Weight loss ORPHA:221098
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Osteopenia, Ataxia, Microcephaly, Olivopontocerebellar hypoplasia, Rod-cone d... OMIM:212065
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Dysphagia, Hypsarrhythmia, Protruding... ORPHA:447997
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Joubert Syndrome With Ocular Defect
Retinal dystrophy, Ataxia, Tremor, Oculomotor apraxia, Retinal coloboma, Gait disturbance, Scolio... ORPHA:220493
Gaucher Disease
Pancytopenia, Corneal opacity, Ataxia, Elevated circulating C-reactive protein concentration, Tre... ORPHA:355
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Self-inj... ORPHA:449291
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears, Dysphagia OMIM:617301
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypertonia, Aggressive behavior, Hypsarrhythmia OMIM:608093
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo... OMIM:614947
Trichinellosis
Babinski sign, Retinal hemorrhage, Central retinal artery occlusion, Hemiparesis, Abnormal optic ... ORPHA:863
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Retinal dystrophy, Brainstem dysplasia, Ataxia, Microcephaly... OMIM:213300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid... OMIM:617527
Aicardi-Goutieres Syndrome 9
Delayed CNS myelination, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrop... OMIM:619487
Joubert Syndrome 2
Retinal dystrophy, Brainstem dysplasia, Ataxia, Oculomotor apraxia, Optic disc coloboma, Hypoplas... OMIM:608091
Joubert Syndrome 8
Optic disc pallor, Ataxia, Oculomotor apraxia, Obesity, Pigmentary retinopathy, Hypertonia, Molar... OMIM:612291
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... ORPHA:37553
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Familial Hypoaldosteronism
Lethargy, Failure to thrive, Increased circulating renin level ORPHA:427
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Renal Hypoplasia, Bilateral
Lethargy, Failure to thrive, Small for gestational age ORPHA:97362
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Mucopolysaccharidosis, Type Ivb
Ataxia, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Necrotizing Enterocolitis
Lethargy, Small for gestational age ORPHA:391673
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... OMIM:106210
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Bilateral tonic-clo... OMIM:610505
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Inguinal hernia, Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesi... ORPHA:51890
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis, Dysphagia ORPHA:142
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratocon... ORPHA:495875
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... ORPHA:324
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Chorioretinal coloboma ORPHA:163961
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Tonic seizure, CNS hyp... OMIM:618367
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Osteoporosis, Abnormal pyramid... OMIM:612199
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebral atrophy OMIM:618266
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Abnormality of the auto... ORPHA:43116
Dengue Fever
Lethargy ORPHA:99828
Intellectual Developmental Disorder, X-Linked 103
Seizure, Lateral ventricle dilatation OMIM:300982
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacifica... OMIM:242900
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Alpha-Mannosidosis, Infantile Form
Short attention span, Pancytopenia, Cataract, Corneal opacity, Ataxia, Confusion, Hepatosplenomeg... ORPHA:309282
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... ORPHA:333
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Cranial nerve compression, Ependymoma, Insulinoma, Atypical absence s... ORPHA:652
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hemiparesis, Lethargy, Failure to thrive OMIM:620233
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Thrombocytopenia OMIM:251290
De Barsy Syndrome
Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia ORPHA:2962
Lissencephaly 9 With Complex Brainstem Malformation
Involuntary movements, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarge... OMIM:618325
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Distal Renal Tubular Acidosis
Paralysis, Respiratory insufficiency due to muscle weakness, Polydipsia, Failure to thrive, Muscl... ORPHA:18
Pineoblastoma
Lethargy, Papilledema, Seizure, Paralysis ORPHA:251909
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Spasticity, Hypotonia, Spastic diplegia ORPHA:2715
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Distal Deletion 10Q
Ataxia, Clonus, Unsteady gait, Poor fine motor coordination, Facial diplegia, Seizure, Lateral ve... ORPHA:96148
Methylmalonic Aciduria, Cblb Type
Lethargy, Failure to thrive OMIM:251110
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Abnormal circulating lipid concentration, Corneal opacity, Cognitive impairment ORPHA:488632
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia ORPHA:94093
Holoprosencephaly
Failure to thrive in infancy, Chorea, Hypotonia, Dystonia, Spasticity, Muscle weakness ORPHA:2162
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... OMIM:175780
Spondyloenchondrodysplasia
Spasticity, Chorea ORPHA:1855
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Monosomy 18Q
Astrocytoma, Hydrocephalus, Poor coordination, Choreoathetosis, Seizure, Abnormal myelination, Fa... ORPHA:1600
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers OMIM:201300
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Joubert Syndrome
Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Oculomotor apraxia ORPHA:475
Menkes Disease
Chorea, Hypotonia, Hypertonia, Spasticity, Muscle weakness ORPHA:565
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Neurodegeneration OMIM:214500
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Cerebral atrophy, Seizure, Colpocephaly, Agenesis of corpus callosum, Ventriculome... OMIM:620156
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensi... ORPHA:83597
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Ornithinuria, Argininuria, Ost... ORPHA:470
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Progressi... ORPHA:580
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Abnormality of extrapyramidal motor funct... ORPHA:79255
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Hurler Syndrome
Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Hepatosplenomegaly, Opacific... OMIM:607014
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Corneal opacity, Astigmatism, Gait disturbance, Abnormal repetitive mannerisms ORPHA:464306
Dpagt1-Cdg
Failure to thrive, Lipodystrophy, Ataxia, Akinesia, Microcephaly, Tremor, Inability to walk, Flex... ORPHA:86309
Complex Regional Pain Syndrome
Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,... ORPHA:83452
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... ORPHA:649
Glycerol Kinase Deficiency
Lethargy, Hypertriglyceridemia, Small for gestational age, Seizure OMIM:307030
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Ataxia, Inability to walk, Seizure, Colpocephaly, Dystonia, Failure to thrive OMIM:620083
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Delayed CNS myelination, Parietal cortical atrophy, Lateral ventricle dilatation, Tonic seizure OMIM:620075
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Gait disturbance OMIM:259600
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Depression, Bu... ORPHA:534
Tay-Sachs Disease
Exaggerated startle response, Hypertonia OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
X-Linked Intellectual Disability, Wilson Type
Seizure, Delayed myelination, Lateral ventricle dilatation ORPHA:85290
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... ORPHA:31150
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Neurofibromatosis Type 1
Cataract, Corneal opacity, Ataxia, Chronic myelogenous leukemia, Attention deficit hyperactivity ... ORPHA:636
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Cholera
Lethargy, Seizure ORPHA:173
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Bohring-Opitz Syndrome
Delayed peripheral myelination, Seizure, Failure to thrive, Agenesis of corpus callosum, Dandy-Wa... OMIM:605039
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetos... OMIM:614080
Trisomy 10P
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Exercise-Induced Malignant Hyperthermia
Lethargy, Seizure, Ataxia, Elevated circulating creatine kinase concentration ORPHA:466650
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Lethargy ORPHA:90673
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sign, Opisthot... OMIM:271900
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Kallmann Syndrome
Ataxia, Recurrent fractures, Tremor, Obesity, Paraplegia, Reduced bone mineral density, Gait dist... ORPHA:478
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker m... OMIM:618736
Glycine Encephalopathy
Generalized myoclonic seizure, Lethargy, Seizure ORPHA:407
Galloway-Mowat Syndrome 9
Choreoathetosis, Cerebellar atrophy, Cerebral cortical atrophy OMIM:619603
Aicardi-Goutières Syndrome
Ventriculomegaly, Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abn... ORPHA:51
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Dysphagia, Loss o... OMIM:214100
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Corpus callosum atrophy, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Dilated third v... OMIM:619244
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Diets-Jongmans Syndrome
Attention deficit hyperactivity disorder, Gliosis, Generalized hypotonia, Aggressive behavior OMIM:618846
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Lateral ventricle dilatation, Dystonia OMIM:614105
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:616602
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Limb hyper... ORPHA:401973
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Aggressive behavior, Unsteady gait, Cerebral atrophy, Choreoathetosis, Hypertonia, Hyperkinetic m... ORPHA:17
Galloway-Mowat Syndrome 1
Cataract, Ataxia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma, D... OMIM:251300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Gabriele-De Vries Syndrome
Waddling gait, Delayed CNS myelination, Tremor, Lateral ventricle dilatation, Tip-toe gait, Dystonia OMIM:617557
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Seizure, Colpocephaly, Agenesis of cor... OMIM:615219
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Glycosuria, Abnormal cornea morphology, Hypok... ORPHA:411629
Pearson Marrow-Pancreas Syndrome
Lethargy, Failure to thrive, Small for gestational age, Steatorrhea OMIM:557000
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Cognitive impairment, Iris coloboma ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration OMIM:253800
Fucosidosis
Corneal opacity ORPHA:349
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Gitelman Syndrome
Salt craving, Paralysis, Paresthesia, Polydipsia, Failure to thrive, Muscle weakness ORPHA:358
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Cirrhosis, Familial
Lethargy OMIM:215600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Lethargy, Failure to thrive OMIM:617156
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Hereditary Fructose Intolerance
Lethargy, Seizure ORPHA:469
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Difficulty walking, S... ORPHA:464738
Meningioma
Back pain, Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Enlarged pitui... ORPHA:2495
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Hypoplasia of the thymus, Opacification of the corneal stroma, Elevat... OMIM:214110
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Br... OMIM:164310
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia, Anemia ORPHA:79396
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Seizure, Lateral ventricle dilatation, Unsteady gait, Ataxia ORPHA:457279
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Hurler Syndrome
Splenomegaly, Corneal opacity, Depression ORPHA:93473
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Abnormal myelination OMIM:617333
Mucopolysaccharidosis, Type Ii
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Short neck, Kyphosis, Flexion ... OMIM:309900
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive OMIM:615512
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Decreased body weight OMIM:609053
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis, Generalized hypotonia OMIM:617403
Williams Syndrome
Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ... ORPHA:904
Brucellosis
Small for gestational age, Anorexia, Chorea, Depression, Weight loss, Failure to thrive ORPHA:1304
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Retinal dystrophy, Abnormal brainstem morphology ORPHA:370997
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Mucopolysaccharidosis Type 6
Cognitive impairment, Splenomegaly, Opacification of the corneal stroma ORPHA:583
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Short neck, Microcephaly, ... ORPHA:444072
47,Xyy Syndrome
Congenital stationary night blindness, Increased circulating gonadotropin level, Abnormal brainst... ORPHA:8
Papillorenal Syndrome
Gliosis OMIM:120330
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, Lower limb hypertonia, Lateral ventricle dilatation, Frequent falls, Intention tremor OMIM:619995
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
Weaver Syndrome
Delayed CNS myelination, Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (a... OMIM:277590
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Cerebral atrophy, At... OMIM:301030
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Familial Cerebral Saccular Aneurysm
Hemiparesis, Abnormal brainstem morphology ORPHA:231160
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Oculomotor apraxia, Arthrogryposis ... OMIM:617822
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Short attention span, Impulsivity, Corneal scarring, Abnormal emotion... ORPHA:642
Lathosterolosis
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... ORPHA:46059
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Seizure, Lateral ventricle dilatation, Spa... ORPHA:544488
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity ORPHA:579
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Posterior Urethral Valve
Lethargy ORPHA:93110
Mucopolysaccharidosis, Type Iva
Waddling gait, Opacification of the corneal stroma OMIM:253000
Legius Syndrome
Short attention span, Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Attention defi... ORPHA:137605
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Dysesthesia, Atypical absence status epilepti... ORPHA:99826
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Anemia, Corneal opacity ORPHA:2908
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Ventriculomegaly, Abnormal optic disc morphology, Lateral ventricle dilatation... ORPHA:397715
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction, Muscle weakness, Depression ORPHA:289390
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Fryns Syndrome
Corneal opacity ORPHA:2059
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:274000
Bainbridge-Ropers Syndrome
Inability to walk, Seizure, Lateral ventricle dilatation, Hypertonia, Failure to thrive OMIM:615485
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Glyc... ORPHA:411634
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Seizure, Colpocephaly, Failure to thrive ORPHA:75857
3Mc Syndrome 3
Corneal opacity OMIM:248340
Fructose Intolerance, Hereditary
Lethargy, Failure to thrive, Seizure OMIM:229600
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Dysphagia, Hypertonia, Dystonia OMIM:617248
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cataract, Corneal opacity ORPHA:1052
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Oculoectodermal Syndrome
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Carpenter Syndrome 1
Microcornea, Polysplenia, Opacification of the corneal stroma OMIM:201000
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Seizure, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Achondroplasia
Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar kyphosis in infancy... OMIM:100800
Systemic Lupus Erythematosus
Chorea, Depression ORPHA:536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Optic atroph... OMIM:613154
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Opacification of the corneal stroma, Co... ORPHA:910
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Dilated third ventricle, Hydrocephalus, Seizure, Lateral ventricle dilatation, Leukod... OMIM:619575
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia OMIM:620047
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Aicardi Syndrome
Delayed CNS myelination, Epileptic spasm, Infantile spasms, Partial agenesis of the corpus callos... OMIM:304050
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Hypotonia, Hypertonia, Dysphagia, Oral a... ORPHA:1199
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Incoordination OMIM:223900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia OMIM:603041
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyngeal dysphagia,... OMIM:219800
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Splenomegaly, Hepatosplenomegaly, Cognitive impairment, Me... ORPHA:217093
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Delayed CNS myelination, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:617260
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Ataxia, Hypertriglyceridemia, Confusion, Tremor, Type II diabetes mell... ORPHA:3455
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Arima Syndrome
Retinal dystrophy, Brainstem dysplasia, Ataxia, Optic atrophy, Hypoplasia of the brainstem, Chori... OMIM:243910
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretin... ORPHA:637
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Cognitive impairment, Mental deterioration ORPHA:217085
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Elevated circulating 7-dehydrocholesterol concen... ORPHA:818
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Tip-toe gait, Opacification of the corneal str... OMIM:252500
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Listeriosis
Back pain, Somatic sensory dysfunction, Stiff neck, Osteomyelitis, Ataxia, Abnormal brainstem MRI... ORPHA:533
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Tyrosinemia, Type I
Failure to thrive, Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Internal ophthalmoplegia, Weight loss, Oculomotor nerve palsy, Periodic hypokalemic paresis ORPHA:91347
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... ORPHA:2273
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Larsen Syndrome
Corneal opacity OMIM:150250
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Wolf-Hirschhorn Syndrome
Megalocornea, Ataxia, Iris coloboma, Sclerocornea ORPHA:280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inability to walk... ORPHA:438213
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Opisthotonus, Seizure, Lateral ventricle dilatation, Hypertonia, Febrile se... OMIM:614098
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Corneal ulceration, Corneal opacity, Shuffling gait ORPHA:740
Schinzel-Giedion Syndrome
Failure to thrive in infancy, Ependymoma, Vocal cord paralysis, Hypertonia, Dysphagia, Spasticity... ORPHA:798
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clonus, Delayed myelination, Lower limb hypertonia, Colpocephaly, Oculomotor apraxia ORPHA:477993
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Dandy-Walker malformation, Partial agenesis of the ... OMIM:270400
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Codas Syndrome
Vocal cord paresis, Hypotonia, Generalized hypotonia OMIM:600373
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Attention d... OMIM:188400
Igg4-Related Thyroid Disease
Vocal cord paralysis, Dysphagia ORPHA:64744
Khan-Khan-Katsanis Syndrome
Hypertonia, Colpocephaly, Failure to thrive, Ventriculomegaly OMIM:618460
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi... ORPHA:353281
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Degcags Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Vocal cord paralysis, Hypotonia, Choking ep... OMIM:619488
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Impaired pai... ORPHA:293987
Williams-Beuren Syndrome
Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord paralysis, Hypotonia,... OMIM:194050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:301043
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:241080
Fraser Syndrome 1
Corneal opacity OMIM:219000
Nijmegen Breakage Syndrome
Hyperactivity, Macrotia, Neurodegeneration OMIM:251260
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Truncal obesity, N... OMIM:259050
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Congenital Disorder Of Glycosylation, Type Iim
Delayed CNS myelination, Epileptic spasm, Cerebral atrophy, Seizure, Lateral ventricle dilatation OMIM:300896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Generalized-onset seizure, Failure to thrive in infancy, Optic nerve hypoplasia... ORPHA:500150
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Delayed CNS myelination, Epileptic spasm, Infantile spasms, Hydrocephalus, Opt... OMIM:607872
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Hypocalcemic... OMIM:612301
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Lateral ventricle dilatation, Co... OMIM:210710
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi... ORPHA:353277
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Fryns Syndrome
Polysplenia, Opacification of the corneal stroma OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, CNS hypomyelination, Frontotemporal cerebral atrophy, Seizure... OMIM:619534
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Abnormal myelination, Dilated ... ORPHA:434179
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Inability to walk, Focal-onset seizure, Optic atrophy,... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Inability to walk, Focal-onset seizure, Poor fine moto... ORPHA:261537
Benign Schwannoma
Allodynia ORPHA:252164
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Irritability, Cataract, Sclerocornea OMIM:216340
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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 Aspa

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 Aspa.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. Acta neuropathologica (November 2017) Aspatm1c(EUCOMM)Wtsi Aspatm1a(EUCOMM)Wtsi PMC5756261
Loss of central auditory processing in a mouse model of Canavan disease. PloS one (May 2014) Aspatm1a(EUCOMM)Wtsi PMC4020830
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. PloS one (May 2011) Aspatm1c(EUCOMM)Wtsi Aspatm1a(EUCOMM)Wtsi PMC3098885

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Aspatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aspatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Aspatm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Aspatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aspatm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Aspatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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