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Gene: Htt MGI:96067

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Gene Summary

Name:
huntingtin
Synonyms:
C430023I11Rik,  IT15,  htt,  HD,  Hdh,  huntingtin

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
embryonic lethality prior to organogenesis Httem1(IMPC)H HOM   E9.5 0.00
increased grip strength Httem1(IMPC)H HET Early adult 1.22×10-05
preweaning lethality, complete penetrance Httem1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Htt 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 predicted to be associated to Htt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Seizure, Lateral ventri... ORPHA:363654
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:615006
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impair... OMIM:300423
Juvenile Huntington Disease
Broad-based gait, Ventriculomegaly, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, ... ORPHA:248111
Epilepsy, Progressive Myoclonic, 8
Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Truncal ataxia, Gait disturbance, Bilateral to... OMIM:616230
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,... OMIM:615528
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic seizure with foca... OMIM:611726
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Seizure, Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism,... OMIM:618824
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Global brain atrophy, Bilateral tonic-clonic seizure with focal onset, Bilate... OMIM:613721
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Myoclonus, Bilateral ... OMIM:162350
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Diffuse cerebral atrop... OMIM:616346
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Status epilepticus w... OMIM:204300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... OMIM:617542
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br... ORPHA:306669
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Dysgen... ORPHA:300573
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sig... OMIM:213600
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
Developmental And Epileptic Encephalopathy 34
Seizure, Cerebral atrophy, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Gait a... OMIM:607136
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski s... OMIM:606777
Caribbean Parkinsonism
Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinso... ORPHA:97355
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormali... OMIM:615362
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic seizure, Increased neuronal autofluo... OMIM:610003
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinso... OMIM:619725
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Tortico... ORPHA:71517
Stxbp1-Related Encephalopathy
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... ORPHA:599373
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Seizure, Inability to walk, Epileptic spasm, Tremor OMIM:619561
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Br... OMIM:617836
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Shuffling gait, Spasticity, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... OMIM:221820
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Extrapyramidal dyskines... ORPHA:71277
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasticity, Gait disturbance... OMIM:618418
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate... ORPHA:98934
Autosomal Dominant Spastic Paraplegia Type 3
Tip-toe gait, Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Gait disturbance, Spa... ORPHA:100984
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Seizure, Tremor, Ataxia OMIM:213000
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Thalami... OMIM:618317
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... OMIM:616981
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Inability to walk, Dysplastic corpus callosum, Bilateral tonic-clonic seizur... OMIM:620317
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... OMIM:614018
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia OMIM:619052
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral ton... OMIM:616540
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Bilate... OMIM:617862
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... OMIM:604484
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Low-set ears, Colpocephaly, Neonatal death OMIM:614870
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hy... OMIM:261640
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Cerebellar atrophy, Failure to thrive, Leukodystrophy, Ataxia OMIM:616494
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, G... OMIM:618090
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Huntington Disease-Like 1
Involuntary movements, Ventriculomegaly, Seizure, Incoordination, Chorea, Gait ataxia, Simultanap... ORPHA:157941
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral a... OMIM:620537
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Failure to thrive, Cerebral atrophy, Inability to walk, Infantile spasms, Bilateral t... OMIM:619701
Diaminopentanuria
Neurodegeneration, Seizure, Ataxia OMIM:222350
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Dystonia, Gait disturbance, Oromandibular dystonia, ... OMIM:615643
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... OMIM:617225
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the internal capsule, Hypop... ORPHA:467166
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Bradyki... OMIM:617384
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure OMIM:619639
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e... OMIM:618924
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unstead... OMIM:617435
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seiz... OMIM:616409
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral ... OMIM:301020
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... OMIM:620453
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy, Refractory status epilepticus, Focal-onset seizure, Clonic ... OMIM:619605
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:617904
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Death in infancy,... OMIM:617668
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Macrotia OMIM:619420
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atyp... OMIM:617113
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, ... OMIM:619072
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Cere... ORPHA:330050
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Failure to thrive, Cerebral h... ORPHA:369939
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, At... ORPHA:77299
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang... ORPHA:263516
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait, Seizure OMIM:608636
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Huntington Disease
Involuntary movements, Decreased body mass index, Seizure, Difficulty walking, Inability to walk,... ORPHA:399
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation,... OMIM:620315
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia OMIM:619862
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Methemoglobinemia, Frontal c... ORPHA:621
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto... ORPHA:13
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... OMIM:617350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Inability to walk, Myoclonus... OMIM:617854
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinsk... OMIM:606693
Schizophrenia 15
Hyperactivity OMIM:613950
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bilateral tonic... OMIM:616139
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin... ORPHA:70594
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Abnormal upper motor neuron ... OMIM:221770
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe... OMIM:615957
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal ... OMIM:613443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Global brain atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clon... OMIM:618470
Orofaciodigital Syndrome Xv
Low-set ears, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilep... OMIM:609056
Lissencephaly 3
Seizure, Agenesis of corpus callosum, Generalized tonic seizure, Bilateral tonic-clonic seizure, ... OMIM:611603
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Distal sensory impairment, Decreased numb... OMIM:214400
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Myoclonus, Hype... OMIM:618497
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia ORPHA:412066
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... OMIM:617106
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D... OMIM:619065
Joubert Syndrome 3
Low-set ears, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elongated superior ... OMIM:608629
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ... OMIM:618877
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Focal impaired awareness seizure, Atonic seizure, S... ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Obesity, Tremor... OMIM:300055
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Dystonia 31
Difficulty walking, Depression, Dysphagia, Abnormal posturing OMIM:619565
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L... ORPHA:401820
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Spasticity, Cerebral cortical atrophy, Generalized tonic seizure, Clonus... OMIM:614959
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus ... ORPHA:166024
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Inability to ... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventri... OMIM:607596
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Failure to thrive, Myoclonus... OMIM:620145
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski... OMIM:607317
Waisman Syndrome
Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ... OMIM:311510
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Sensorineural hearing impair... ORPHA:2185
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 mont... OMIM:618917
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricul... OMIM:615889
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Developmental Delay With Or Without Epilepsy
Ataxia, Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, ... OMIM:620540
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Lissencephaly 9 With Complex Brainstem Malformation
Low-set ears, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia of the brainste... OMIM:618325
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Lateral ventricle dilatation, Abnormal thalamus morphology, Hypoplasia of the brain... ORPHA:300570
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Infantile spasms... OMIM:617493
Lennox-Gastaut Syndrome
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... ORPHA:2382
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Death in childhood, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Leber Optic Atrophy And Dystonia
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Dystonia, Athetosis OMIM:500001
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait a... ORPHA:225147
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Truncal ataxia OMIM:617560
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Bilatera... OMIM:614559
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi... OMIM:619606
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricl... OMIM:617751
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, Cerebellar atrophy, Failure to thrive, Cerebral atrophy OMIM:300475
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, Babinski sign, ... ORPHA:289560
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Cerebral atrophy, Failure to thrive, Ata... OMIM:617951
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy OMIM:613710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Unsteady gait OMIM:203740
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu... ORPHA:561854
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Paresthesia, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral t... ORPHA:98820
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Seizure, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, ... ORPHA:488635
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Cerebellar atrophy, Delayed CNS myelination, Demyelinating peripheral neuropathy, Impaire... OMIM:619742
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... OMIM:619157
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized non-motor (a... ORPHA:98818
Pelizaeus-Merzbacher Disease
Global brain atrophy, CNS hypomyelination, Failure to thrive, Sudanophilic leukodystrophy, Cerebe... OMIM:312080
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Brain atrophy, Seizure OMIM:612621
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Gliosis, Focal tonic seizure, Atonic seizure, F... ORPHA:99802
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Chorea, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Machado-Joseph Disease
Spasticity, Facial-lingual fasciculations, Fasciculations, Dilated fourth ventricle, Limb ataxia,... OMIM:109150
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Arm dystonia, Seizure, Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Dyst... OMIM:601338
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Atrophy/Deg... OMIM:613477
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Cerebral atrophy, Epileptic spasm, Tonic seizure, Bilateral tonic-clo... OMIM:617711
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... OMIM:604218
Glutamine Deficiency, Congenital
Low-set ears, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Neonatal death, Su... OMIM:610015
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset... OMIM:226750
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Ataxia ORPHA:527497
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Hyp... ORPHA:370959
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Gait disturbance, Tr... ORPHA:98764
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of... OMIM:618012
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Developmental And Epileptic Encephalopathy 63
Cerebral cortical atrophy, Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm... OMIM:617976
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... OMIM:600363
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ... OMIM:137440
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Ataxia ORPHA:280234
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral atrophy, Hypoplasia of the br... OMIM:613668
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Infantile spasms, Decreased body weight ORPHA:324422
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Abnormal astrocyte mor... ORPHA:217260
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Cerebral atrophy, Myoclonus, Loss of ambulation, Increased extraneuronal autofluorescent... OMIM:204200
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Lateral ventricle dilatation OMIM:618330
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Difficulty walking,... ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia,... OMIM:615768
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Spinocerebellar Ataxia 10
Seizure, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of... OMIM:603516
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A... ORPHA:255182
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss o... OMIM:613908
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal motor function, ... OMIM:236792
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcep... OMIM:618606
Cach Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Dysgyria, Globus pallidus hypointensity on suscep... ORPHA:135
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Tremor, Hydrocephalus, Spastic tetraparesis OMIM:619470
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... ORPHA:140927
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Adams-Oliver Syndrome 2
Low-set ears, Lateral ventricle dilatation, Protruding ear, Cerebellar hypoplasia, Hydrocephalus,... OMIM:614219
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Cerebellar atrophy, Myoclonus, Dy... OMIM:614487
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Sensorineural hearing impairment, Agenesis of c... OMIM:616602
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Cerebral atrophy, Inability to walk, Epileptic spasm, Bilateral tonic-clonic s... ORPHA:293181
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Impaire... OMIM:300623
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br... OMIM:168605
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Cerebra... OMIM:619244
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination OMIM:618559
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria... ORPHA:98755
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Attention deficit hyperactivity disorder, Ga... ORPHA:216866
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Failure to thrive OMIM:612740
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia, Generalized myoclonic seizure OMIM:610951
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Hydrocepha... ORPHA:363717
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Small for gestational age OMIM:618910
Paganini-Miozzo Syndrome
Low-set ears, Posteriorly rotated ears, Lateral ventricle dilatation, Microtia OMIM:301025
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere... OMIM:618170
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Seizure, Tremor, Ataxia OMIM:618951
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... OMIM:617166
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Familial Infantile Myoclonic Epilepsy
Ataxia, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic ... ORPHA:352582
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosi... OMIM:256600
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Dysmetria, At... OMIM:607694
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Truncal obesity, ... OMIM:300957
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Inability to walk, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Abnormal py... OMIM:614831
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Ocul... ORPHA:529665
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... OMIM:612953
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cogwheel rigidity, Action tremor, Parkinsonism with favorable response to dopamin... ORPHA:254886
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Seizure, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spa... OMIM:612936
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age OMIM:278780
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Seizure, Akinesia, Cogwheel rigidity, R... ORPHA:97349
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, Bil... OMIM:271980
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age... ORPHA:477673
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Status epilepticus, Bila... OMIM:620200
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Impaired vibration sensat... ORPHA:447896
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplas... OMIM:618291
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Gliosis,... OMIM:616239
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Cerebral atrophy, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spa... OMIM:615031
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Ataxia OMIM:619688
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Inability to walk, Chorea, Dystonia, Focal-onset seizure OMIM:618760
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Cerebral cortical atrophy, Generalized non-motor (absence) seizure... ORPHA:485350
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat... ORPHA:397725
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... OMIM:105550
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Cerebellar atrophy, Myoclonus, Dy... ORPHA:313772
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosum, Dystonia, ... OMIM:619302
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Cerebellar vermis atrophy, Gait ataxia, ... OMIM:614381
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Autosomal Recessive Spastic Paraplegia Type 77
Seizure, Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Loss of ambulation, Babi... ORPHA:466722
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy OMIM:619125
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Abnormal thalamus morphology, Sensorineural he... ORPHA:557003
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia... ORPHA:284417
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral tonic-clonic seizur... ORPHA:457240
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Central Neurocytoma
Tinnitus, Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Leigh Syndrome, Nuclear
Spasticity, Failure to thrive, Seizure, Gliosis, Ataxia, Dystonia OMIM:256000
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Gait ataxia, Cogwheel rigidity, Myoclo... ORPHA:225154
Spinocerebellar Ataxia Type 13
Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradyk... ORPHA:98768
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Cerebellar atrophy, Chorea, Cerebral hypomyelination, Ataxia, De... ORPHA:79097
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosum, Hypertonia... OMIM:619301
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, At... ORPHA:391417
Slc35A2-Cdg
Abnormal midbrain morphology, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the c... ORPHA:356961
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Seizure, Feb... OMIM:619847
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto... ORPHA:306682
Joubert Syndrome 30
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Dandy-Wal... OMIM:617622
Weiss-Kruszka Syndrome
Low-set ears, Ventriculomegaly, Cupped ear, Hearing impairment, Horizontal crus of helix, Hypopla... OMIM:618619
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... OMIM:619881
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized myoclonic seizure, Cerebral atrophy, Epileptic spasm, Tremor, Gen... OMIM:612164
Dworschak-Punetha Neurodevelopmental Syndrome
Cupped ear, Large earlobe, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:619955
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Colpocephaly, Lower limb spasticity, Limb hyp... ORPHA:401815
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Steppage gait, Vocal cord paralysis, Inability to wa... ORPHA:99947
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, Seizure, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Macrotia, Dilated fourth ventricle, Profound hearing impairment, Mi... ORPHA:3078
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Hypoplasia of the pons, Abnorm... ORPHA:280195
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Seizure, Lethargy, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Leukodystrophy, Cerebral hypomyelination, Ataxia, Choreoathetosis OMIM:612438
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spastic tetraplegia, Oculogyr... ORPHA:208447
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Rigidity, Cerebral cortical hemiatrophy, ... ORPHA:33445
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, G... ORPHA:280210
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cerebral atrophy, Deep white m... ORPHA:565624
Developmental And Epileptic Encephalopathy 78
Chorea, CNS hypomyelination OMIM:618557
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate... ORPHA:293725
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Abnormal ... ORPHA:85179
Developmental And Epileptic Encephalopathy 29
Chorea, CNS hypomyelination, Failure to thrive, Cerebral atrophy OMIM:616339
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Ataxia OMIM:300983
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticit... OMIM:617916
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegeneration, Dysmetria... OMIM:612319
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination, Failure to thrive, Thrombocytopenia OMIM:616577
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Cerebral hypomyelination, Ataxia, Dysdiad... ORPHA:289494
Congenital Disorder Of Glycosylation, Type Iaa
Cerebral cortical atrophy, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebellar vermis atrophy, CNS hypomyelination, Cerebral atrophy OMIM:615760
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Cerebral atrophy OMIM:618770
Autosomal Dominant Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Gait ataxia, Limb dystonia, Rigidity, Abnormality of extra... ORPHA:98808
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral atrophy, Cerebral hypomyelination, Ataxia, Demyelinating motor neuropath... OMIM:608804
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... ORPHA:488627
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Low-set ears, Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cortic... OMIM:620075
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Hypoplasia of ... ORPHA:420179
Spastic Paraplegia 44, Autosomal Recessive
Dysmetria, CNS hypomyelination, Distal sensory impairment, Ataxia OMIM:613206
Leukodystrophy, Hypomyelinating, 10
Cerebral cortical atrophy, CNS hypomyelination, Failure to thrive, Cerebral atrophy, Leukodystrophy OMIM:616420
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Occipital ... ORPHA:397715
Developmental And Epileptic Encephalopathy 61
Cerebral atrophy, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizu... OMIM:617933
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:613154
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmet... OMIM:610185
Childhood-Onset Nemaline Myopathy
Difficulty walking, Slender build, Clumsiness, Bradykinesia, Waddling gait ORPHA:171439
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Global brain atrophy, Inability to walk, Dysmetria,... ORPHA:845
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Cerebral atrophy, Tetraparesis, Inability to walk, Epileptic spasm... OMIM:617105
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Low-set ears, Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicro... OMIM:620156
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ventriculomegaly, Failure to thrive, Seizure, Inability to walk, Tremor, Hypertonia, Ataxia OMIM:619556
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Joubert Syndrome 31
Ventriculomegaly, Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Rabies
Cerebral palsy, Vocal cord paresis, Seizure ORPHA:770
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Bilateral tonic-clonic ... OMIM:609924
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Hemidystonia, Involuntary movements, Focal sensory seizure with som... ORPHA:1929
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination, Somatic sensory dysfunction, Ataxia ORPHA:320401
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis, Seizure, Hemiparesis OMIM:613002
Gómez-López-Hernández Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum mo... ORPHA:1532
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Spasticity, Ventriculomegaly, Failure to thrive, Seizure, Incoordinati... OMIM:616034
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Cupped ear, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:618193
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Agenes... ORPHA:168486
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, Delayed CNS myelination, Ataxia, Brain... OMIM:619260
Huppke-Brendel Syndrome
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy OMIM:614482
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Severe Canavan Disease
Spasticity, Seizure, Inability to walk, Babinski sign, Lethargy, Bilateral tonic-clonic seizure, ... ORPHA:314911
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus callosum, Gliosis, Hypertoni... OMIM:615095
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Brain atrophy, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Cloni... OMIM:617290
Cog5-Cdg
Low-set ears, Lateral ventricle dilatation, Sensorineural hearing impairment, Diffuse cerebral at... ORPHA:263487
Al-Gazali-Bakalinova Syndrome
Low-set ears, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus call... OMIM:607131
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Hypoplasia of the brainstem, Secondary microcephaly, Fusion of the left and right t... OMIM:619306
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Seizure, Neurodegeneration, Cerebral atrophy, Chorea, Infantile spasms, Gai... OMIM:618321
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Gait ataxia, Rigidity, Dystonia, Unsteady gait, Ataxia, Bradykinesia, Sp... ORPHA:98760
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia OMIM:225753
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Abnormal brainstem morphology, Abnormal putamen morphology, Cerebra... ORPHA:88619
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... ORPHA:300605
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Decreased thalamic volume OMIM:618646
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, CNS hypomyelination, Failure to thrive, Agenesis of corpus callosum, Ataxia... ORPHA:481152
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Slowed slurred ... OMIM:619827
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopeni... OMIM:615966
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Hemiparesis, Rigidity, Diffuse c... ORPHA:199354
Cerebral Cavernous Malformations 3
Paralysis, Seizure OMIM:603285
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Cerebral atrophy, Hemiplegia, Hypertonia, Ataxia, Bilateral tonic-clonic se... OMIM:272300
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Ataxia, Impulsivity, Progressive cerebel... OMIM:607454
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Seizure, Inability to walk, Epileptic spasm... OMIM:617193
Primary Angiitis Of The Central Nervous System
Seizure, Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Ataxia OMIM:615281
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Rigidity, Dystonia, Babinski sign, Parkinsonism, Steppage gait, Truncal... OMIM:258450
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Protruding ear, Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking, Impaired vibration sensation i... ORPHA:137898
Glycine Encephalopathy 1
Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Seizure, Gait ataxia, Cachexia, Weight loss, Status epilepticus OMIM:612075
Microcephaly-Capillary Malformation Syndrome
CNS hypomyelination, Failure to thrive, Cerebral atrophy, Delayed myelination, Small for gestatio... OMIM:614261
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Frequent... OMIM:159950
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Chorea, Bilateral tonic-clonic seizure, Status epilept... OMIM:613970
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, CNS hypomyelination, Failure to thrive, Hypochromic microcytic anemia OMIM:619423
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Myoclonic seizure, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Tonic seizure OMIM:620546
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Congenital Myopathy 9A
Akinesia, Obesity OMIM:618822
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Seizure, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, H... OMIM:610217
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Low-set ears, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrop... ORPHA:572798
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesi... OMIM:312170
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait ORPHA:369840
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Clonus, Limb hyperto... OMIM:614498
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, Focal impaired awareness seizure, Seizure, Head tremor, Infantile spas... OMIM:619428
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Dysesthesia, Bilateral tonic-cloni... ORPHA:1945
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Brain atrophy, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bil... OMIM:619092
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Low-set ears, Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia o... OMIM:619479
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy OMIM:619286
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis... OMIM:302800
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Developmental And Epileptic Encephalopathy 28
Spasticity, Generalized non-motor (absence) seizure, Seizure, Cerebral atrophy, Focal clonic seiz... OMIM:616211
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Basal Ganglia Calcification, Idiopathic, 5
Vertigo, Basal ganglia calcification, Cerebral calcification, Thalamic calcification OMIM:615483
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at... OMIM:616719
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination, Failure to thrive OMIM:614883
Glut1 Deficiency Syndrome 2
Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Rett Syndrome
Failure to thrive, Seizure, Difficulty walking, Inability to walk, Dystonia, Gait disturbance, Br... ORPHA:778
Sarcosinemia
Tetraparesis, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:617507
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo... ORPHA:683
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure, Cerebral atrophy... ORPHA:168491
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Parkinsonism with fav... ORPHA:411602
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Choreoathetosis OMIM:620023
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Cerebellar atrophy, CNS hypomyelination, Leukodystrophy, Dysmetria, At... OMIM:619576
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Seizure, Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dysto... ORPHA:254881
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Diffus... ORPHA:289266
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Frontal cortical atrophy, CNS hypomyelination OMIM:618437
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Spinocerebellar Ataxia 42
Cerebellar atrophy, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spast... OMIM:616795
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... OMIM:607346
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Sensorineural heari... ORPHA:544488
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:614105
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Rhombencephalosynapsis
Ventriculomegaly, Low-set, posteriorly rotated ears, Fusion of the left and right thalami, Fusion... ORPHA:59315
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali... OMIM:618067
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Cerebellar atrophy, Generalized dystonia, Progressive spastic paraplegia, Progressive spas... ORPHA:329308
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Ataxia OMIM:619196
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Cupped ear, Lateral ventricle dilatation, Probst bundles, Agenesis of corpus callos... OMIM:612863
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto... ORPHA:275864
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Phenylketonuria
Lower limb spasticity, Seizure, Tremor, Ataxia ORPHA:716
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Seizure, Chorea, Opisthotonus, Gliosis, Dystonia, Extrapyramidal dyski... OMIM:277470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Failure to thrive, Seizure, Cerebral atrophy, Difficulty walki... ORPHA:442835
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Ddost-Cdg
CNS hypomyelination, Failure to thrive ORPHA:300536
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypertonia, Exa... OMIM:272750
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Tremor, Ataxia OMIM:618637
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Mantle Cell Lymphoma
Weight loss, Anorexia ORPHA:52416
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Cachexia, Cerebellar atrophy OMIM:618186
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, Tremor, Ataxia, Status e... OMIM:614307
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy OMIM:618866
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Hearing impairment, Cerebral atrophy OMIM:619057
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Leukodystrophy OMIM:616859
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp... OMIM:614815
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia OMIM:169500
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Giant Axonal Neuropathy
CNS hypomyelination, Distal sensory impairment ORPHA:643
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Adenylosuccinase Deficiency
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Cerebral hypomyelination OMIM:103050
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, C... OMIM:617296
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substanti... ORPHA:2822
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Pyruvate Dehydrogenase Deficiency
Spasticity, Ventriculomegaly, Seizure, Cerebral palsy, Tremor, Lethargy, Abnormal pyramidal sign,... ORPHA:765
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Ventriculomegaly, Failure to thrive, Seizure, Infantile... OMIM:620352
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Aggressive behavior, H... ORPHA:3077
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, D... ORPHA:199351
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Failure to thrive, Bilateral tonic-clonic seizure, Dystonia, Spastic tetraplegia OMIM:618237
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Hearing impairment OMIM:613724
Combined Oxidative Phosphorylation Deficiency 2
Low-set ears, Mild fetal ventriculomegaly, Agenesis of corpus callosum, Neonatal death OMIM:610498
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Seizure, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia, Focal m... ORPHA:542310
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Seizure, Neurodegeneration, Age... OMIM:214150
Variegate Porphyria
Paralysis OMIM:176200
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Focal impaired awareness seizur... OMIM:117360
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclo... OMIM:620451
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Sensorineural hearing impairment, Microcephaly, Co... OMIM:615219
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... OMIM:619616
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination OMIM:619908
Machado-Joseph Disease Type 1
Spasticity, Dilated fourth ventricle, Abnormality of extrapyramidal motor function, Babinski sign... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Dilated fourth ventricle, Abnormality of extrapyramidal motor function, Babinski sign... ORPHA:276241
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Generalized-onset seizure, Gait ataxia, Cachexia, ... ORPHA:85278
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Oc... ORPHA:1170
Pulmonary Blastoma
Weight loss ORPHA:64741
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse cerebral atrophy, Cerebral hypomyelination, Dysmetria, Ataxia ORPHA:438114
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Cerebral atrophy, Bilateral tonic-clonic seizure ORPHA:457205
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure ORPHA:209370
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Spinocerebellar Ataxia Type 10
Focal impaired awareness seizure, Cerebellar atrophy, Generalized-onset seizure, Gait imbalance, ... ORPHA:98761
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Developmental And Epileptic Encephalopathy 71
Gliosis, Seizure OMIM:618328
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity, Failure to thrive OMIM:274270
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Ri... OMIM:601104
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonu... OMIM:610539
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Limb dystonia, Gait... ORPHA:363400
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, D... OMIM:617988
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Polydipsia, Irritability ORPHA:30925
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Lateral ventricle dila... OMIM:611209
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Chronic Hiccup
Depression, Abnormal eating behavior, Weight loss ORPHA:396
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Seizure, Myoclonus, Tremor, Cachexia, Ataxia ORPHA:97229
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Abnormal medulla oblongata mor... ORPHA:206448
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor, Agenesis of corpus callosum OMIM:231950
Lafora Disease
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:501
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Brain a... ORPHA:395
Developmental And Epileptic Encephalopathy 90
Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:301058
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Gait disturban... OMIM:614104
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... ORPHA:96148
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Agenesis of corpu... ORPHA:220497
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Focal myoclonic seizure, Seizure, Loss of ambulation, Babinski s... ORPHA:3208
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Seizure, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Babin... OMIM:301310
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Young-Onset Parkinson Disease
Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia ORPHA:2828
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Hemiparesis, Hypertonia, Bilateral tonic-c... OMIM:604317
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:206443
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Spasticity, Seizure, Failure to thrive in infancy, Cachexia, Gait dist... ORPHA:702
Isaacs Syndrome
Weight loss, Distal sensory impairment, Fasciculations ORPHA:84142
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Lateral ventricle dilatation OMIM:619995
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... ORPHA:90117
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Focal T2 hyperintense bas... ORPHA:506
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Hypoglycemic seizures, Focal impaired awareness seizure, Global brain atro... ORPHA:480864
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination, Dysmetria OMIM:618863
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Seizure, Bradykinesia, Spastic tetraparesis, Agenesis of corpus callosum, Dysp... OMIM:614924
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... OMIM:620445
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum ORPHA:1496
Huntington Disease-Like 3
Spasticity, Broad-based gait, Seizure, Extrapyramidal muscular rigidity, Chorea, Abnormality of e... ORPHA:157946
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI OMIM:614464
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Panhypopituit... OMIM:610828
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hearing impairment, Encephalocele, Agenesis of corpus callosum, Abn... ORPHA:314621
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Reduced cerebral white matter volume, Lateral ventricle... OMIM:620371
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, CNS hypomyelination, Gait ataxia, Delayed CNS myelination, Ataxia, Choreoathe... OMIM:619580
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity, Abnormal bra... ORPHA:444013
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Low-set ears, Lateral ventricle dilatation, Abnormal cerebra... ORPHA:457279
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Hyperintensity of cerebral white matter on MRI, Cerebral atrophy, Miscar... ORPHA:1947
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Cerebral cortical hemiatrophy, Simple f... ORPHA:268947
Combined Saposin Deficiency
CNS demyelination, Splenomegaly, Neuronal loss in central nervous system OMIM:611721
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Failure to thrive, Chorea, Delayed CNS myelination, Athetosis, Choreoathetosis OMIM:309541
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Noonan Syndrome 14
Low-set ears, Webbed neck, Posteriorly rotated ears, Lateral ventricle dilatation OMIM:619745
Machado-Joseph Disease Type 3
Spasticity, Dilated fourth ventricle, Abnormality of extrapyramidal motor function, Babinski sign... ORPHA:276244
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of ... ORPHA:254930
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins... ORPHA:306674
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Lethargy, Weight loss, Anorexia ORPHA:178029
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... ORPHA:401768
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins... OMIM:616586
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Recurrent otitis media, Sens... OMIM:619575
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hippocampal atrophy OMIM:618922
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Failure to thrive, Cerebral atrophy, Generalized dystonia, Bilateral tonic-clonic sei... OMIM:618235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Hearing impairment, Periventricular leukomalacia, Microcephaly, Colpocephaly, H... OMIM:619833
Joubert Syndrome 14
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar v... OMIM:614424
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplas... OMIM:616975
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia... ORPHA:464738
Japanese Encephalitis
Abnormal midbrain morphology, Abnormality of the internal capsule, Abnormal thalamus morphology, ... ORPHA:79139
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur... ORPHA:544254
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e... OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Lateral ventricle dilatation, Neurofibrillary tangles OMIM:607485
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Molar tooth sign on MRI OMIM:612285
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Hepatosplenomegaly, CNS hypomyelination ORPHA:309155
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Seizure, Generalized-onset seizure, Tremor, Limb hypertonia OMIM:617162
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Agenesis of corpu... ORPHA:220493
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Limb dystonia, Lethargy, Gliosis, Neuronal l... OMIM:604377
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Delayed CNS myelination, Athetosis OMIM:617132
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Gait disturbance, Ataxia, Bradykinesia, Intention... ORPHA:93256
Supranuclear Palsy, Progressive, 2
Falls, Akinesia, Gait imbalance, Postural tremor, Axial dystonia, Retrocollis, Rigidity, Parkinso... OMIM:609454
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Gait ataxia, Acti... ORPHA:101
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Seizure, Cerebral atrophy, Loss of ambulation, Clums... ORPHA:79264
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Ravine Syndrome
Abnormal brainstem morphology, Abnormal basal ganglia morphology, Abnormal auditory evoked potent... ORPHA:99852
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:614465
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, Ventriculomegaly, Decreased response to growth hormone stimulation test, Hypoplasia... OMIM:617260
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Seizure, Failure to thrive, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Abn... ORPHA:254892
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Myoclonus, B... OMIM:301072
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Athetosis, Seizure, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dys... OMIM:617710
Spontaneous Periodic Hypothermia
Gait disturbance, Seizure, Tremor, Ataxia ORPHA:29822
Lissencephaly 8
Cerebral hypomyelination OMIM:617255
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Ventriculomegaly, Seizure, Epileptic spasm, Partial agenesis of the corpus callosum, ... ORPHA:500144
Mohr-Tranebjaerg Syndrome
Mental deterioration, Dysphagia, Abnormal posturing OMIM:304700
Choreoacanthocytosis
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Loss of ambulation, Parkinsonism, We... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Loss of ambulation, Steppa... OMIM:614895
Saccharopinuria
Seizure, Gait ataxia, Tremor, Distal sensory impairment, Spastic diplegia ORPHA:3124
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Seizure, Generalized-onset seizure, Obesity, Tremor, Hemiparesis, D... OMIM:619737
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action t... OMIM:607483
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Cerebral cortical atrophy, Delayed myelination OMIM:614922
Lissencephaly, X-Linked, 2
Spasticity, Gliosis, Seizure, Agenesis of corpus callosum OMIM:300215
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Secondary microcephaly, Death in adolescence, Mic... OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea... OMIM:617600
Mosaic Trisomy 1
Low-set ears, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Agenesis of corpus call... ORPHA:1692
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Hydr... ORPHA:163961
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoath... OMIM:233910
Holoprosencephaly 14
Low-set ears, Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Hydrocephalus, Dand... OMIM:619895
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Cachexia, Lethargy, Bilateral toni... ORPHA:42
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity, Decreased body weight OMIM:300958
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Dystonia, Gait disturbance, Hyp... ORPHA:309854
Joubert Syndrome 10
Low-set ears, Microcephaly, Conductive hearing impairment, Molar tooth sign on MRI OMIM:300804
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal ... OMIM:618060
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Abnormal thalamus morphology ORPHA:404440
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Cerebellar atrophy, Failure to thrive, Generalized non-motor (absence)... ORPHA:404454
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination, Athetosis, Ataxia OMIM:612951
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Bainbridge-Ropers Syndrome
Low-set ears, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Death in infancy, ... OMIM:615485
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Lymphopenia, Dysmetria, Ataxia OMIM:619708
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis, Failure to thrive OMIM:618249
Developmental And Epileptic Encephalopathy 17
Delayed CNS myelination, Chorea, Athetosis, Cerebral atrophy OMIM:615473
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Gabriele-De Vries Syndrome
Low-set ears, Lateral ventricle dilatation, Simple ear, Cortical dysplasia, Posteriorly rotated ears OMIM:617557
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Abnormal periventricular white matter morphology, Abnormal ba... ORPHA:83597
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormality of the outer ear, Abnormal thalamus morphology, Sensor... ORPHA:435638
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Cerebellar atrophy, Delayed myelination OMIM:616683
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Difficulty walking, Loss of ambulation, Weight loss, Impaired orophary... ORPHA:98897
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis,... ORPHA:43
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... ORPHA:96
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination, Dysmetria, Ataxia OMIM:618527
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Low-set ears, Hydranencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencepha... ORPHA:2570
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callo... OMIM:620113
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Inability to walk, Epileptic spasm, Hypertonia, Bilateral tonic-clonic seizure OMIM:619877
Joubert Syndrome 2
Low-set ears, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Hypoplasia o... OMIM:608091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, Chorea, Ataxia, Truncal ataxia, Athetosis OMIM:615356
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysphagia, Dysdiadochokinesis ORPHA:247234
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Status epilepticus, Paralysis, Focal-onset seizure ORPHA:83601
Pyruvate Carboxylase Deficiency
CNS hypomyelination, Failure to thrive, Agenesis of corpus callosum, Ataxia, Cerebellar gliosis, ... ORPHA:3008
Hydranencephaly
Cerebral cortical atrophy, Ventriculomegaly, Atrophic pituitary gland, Abnormal corpus striatum m... ORPHA:2177
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele... OMIM:611134
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bila... OMIM:616281
Joubert Syndrome 37
Low-set ears, Hypoplasia of the corpus callosum, Posteriorly rotated ears, Molar tooth sign on MRI OMIM:619185
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Absent sept... OMIM:609053
Laryngeal Neuroendocrine Tumor
Weight loss, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:615665
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Delayed myelination, Failure to thrive ORPHA:88618
Joubert Syndrome 7
Abnormal corpus callosum morphology, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of ... OMIM:611560
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Seizure, Cerebral atrophy, Myoc... OMIM:614946
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy, Sensorineural hearing impairment OMIM:619046
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bilateral t... ORPHA:1942
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Hearing impairment, Secondary microcepha... OMIM:300868
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Leukodystrophy, Hypomyelinating, 16
Failure to thrive, Leukodystrophy, Gait ataxia, Dysmetria, Delayed CNS myelination, Choreoathetosis OMIM:617964
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Failure to thrive, Pica, Stereotypical body rocking, Tongue thrusting, Hyperact... OMIM:617865
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy OMIM:176500
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Splenomegaly ORPHA:79238
Joubert Syndrome 6
Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongate... OMIM:610688
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Seizure, Gait ataxia, Cachexia, Gait apraxia, Truncal atax... OMIM:312750
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure,... OMIM:619835
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morphology, Tremor, Babins... ORPHA:83629
Holocarboxylase Synthetase Deficiency
Ataxia, Irritability, Lethargy, Weight loss, Anorexia ORPHA:79242
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:248500
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Joubert Syndrome 35
Low-set ears, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Weaver Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Umbilical hernia, Cerebellar hypoplasia, Macrotia OMIM:277590
Ataxia-Telangiectasia
Spasticity, Failure to thrive, Seizure, Tremor, Gait disturbance, Ataxia ORPHA:100
Flynn-Aird Syndrome
Cerebral cortical atrophy, Impaired pain sensation, Seizure, Cachexia, Ataxia ORPHA:2047
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis OMIM:616287
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Glioblastoma
Paralysis, Seizure ORPHA:360
Ritscher-Schinzel Syndrome 4
Chorea, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Focal-ons... OMIM:619435
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Gaba-Transaminase Deficiency
Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Early Infantile Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Generalized non-motor (absence) seizure, Episo... ORPHA:1934
X-Linked Creatine Transporter Deficiency
Seizure, Chorea, Cachexia, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Death in infancy, Lateral ventricle dilatation, Death in childhood OMIM:612301
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Abnormal cerebral cortex morphology, Simplified gyral pattern ORPHA:411493
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Seizure, Diffuse cerebral atrophy, Head titubation, Gliosis, Vestibular areflexia, Spastic tetrap... ORPHA:3240
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Bilater... ORPHA:478029
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Sandhoff Disease
Impaired temperature sensation, Hepatosplenomegaly, CNS hypomyelination, Ataxia OMIM:268800
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ventriculomegaly, Seizure, Chorea, Infantile spasms, Limb dystonia, Comm... ORPHA:25
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Seizure, Difficulty walking, Ankle clonus, Gliosis, Dystonia OMIM:618222
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:98795
Scalp-Ear-Nipple Syndrome
Low-set ears, Cupped ear, Lateral ventricle dilatation, Underdeveloped tragus, Underdeveloped ant... OMIM:181270
Halperin-Birk Syndrome
Ventriculomegaly, Failure to thrive, Pseudobulbar paralysis, Generalized-onset seizure, Inability... OMIM:618651
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Congenital Myopathy 12
Akinesia, Small for gestational age OMIM:612540
Fatal Familial Insomnia
Weight loss, Myoclonus, Neuronal loss in central nervous system, Ataxia OMIM:600072
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Frequent falls, Inability to walk, Unsteady gait, Poor gross motor coordinati... ORPHA:99948
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Perry Syndrome
Dementia, Depression, Weight loss ORPHA:178509
Orofaciodigital Syndrome Xvi
Low-set ears, Ventriculomegaly, Molar tooth sign on MRI OMIM:617563
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination, Athetosis, Ataxia ORPHA:280219
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy OMIM:618006
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... OMIM:619487
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Seizure, Cerebellar vermis atrophy, Obesity, Focal-onset seizure, Lower limb spas... ORPHA:163681
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Cerebellar atrophy, Somatic sensory dysfunction, Resting tremor,... ORPHA:909
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral hypomyelination, ... OMIM:618367
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis, Tetraplegia, Hypertonia, Spastic tetraplegia OMIM:608033
Bilateral Polymicrogyria
Cerebellar atrophy, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms,... ORPHA:268940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cerebral... OMIM:615398
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination ORPHA:280229
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Low-set ears, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia ... ORPHA:444072
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Global brain atrophy, Cerebral hypomyelination, Thrombocytopenia, Brai... ORPHA:457351
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia,... OMIM:618056
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Seizure, Dilated fourth ventricle, ... OMIM:615574
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Seizure, Inability to walk, Tremor, Agenesis of corpus callosum, Limb tremor OMIM:218000
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Depression, Dysphagia, Abnormal posturing OMIM:128100
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Depression, Dementia, Positive Romberg sign, Gait ataxia, Dysmetria, Emotional ... OMIM:607459
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Generalized myoclonic seizure, Failure to thrive, Generalized non-motor (absence) sei... ORPHA:79351
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Small for gestational age, Failure to thrive OMIM:619147
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Intracerebral periventricular calcifications, Microcephaly, Cerebral w... ORPHA:168577
Snakebite Envenomation
Respiratory paralysis, Paralysis, Hypopituitarism, Pseudobulbar paralysis ORPHA:449285
Joubert Syndrome 1
Low-set ears, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the c... OMIM:213300
Myopathy With Extrapyramidal Signs
Seizure, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsi... OMIM:615673
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Failure to thrive, Leukodystrophy, Sudanophilic leukodystrophy, Corpus call... OMIM:260600
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Mo... ORPHA:2318
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, F... ORPHA:488613
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Tremor, Gait disturbance, Hypertonia ORPHA:1192
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action ... OMIM:615273
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Microcephaly-Micromelia Syndrome
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Neonatal death, Microcephaly, Aqueductal... OMIM:251230
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Orofaciodigital Syndrome Vi
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Occipital meningocele,... OMIM:277170
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic-clonic seiz... ORPHA:369929
Cystathioninuria
Tremor, Seizure ORPHA:212
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Global brain atrophy, Seizure, Cerebral atrophy, Inability to walk, Failure to thrive... OMIM:616801
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Seizure ORPHA:357225
Sneddon Syndrome
Chorea, Seizure, Tremor, Hemiparesis ORPHA:820
Classic Hodgkin Lymphoma
Anorexia, Weight loss, Ataxia ORPHA:391
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Seizure, Chorea, Tremor, Rigidity, Abnormal... ORPHA:2131
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal ... ORPHA:447753
Fucosidosis
CNS hypomyelination, Failure to thrive, Cerebral atrophy, Splenomegaly, Vacuolated lymphocytes OMIM:230000
Gm2 Gangliosidosis, Ab Variant
Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal ... ORPHA:309246
Pettigrew Syndrome
Ventriculomegaly, High-frequency hearing impairment, Basal ganglia calcification, Cerebral calcif... OMIM:304340
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Hearing impairment, Hypoplasia of the corpus callosum, Protruding ear, Colpocep... ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Seizure, Gait ataxia, Tremor, Abdominal obesity OMIM:300354
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Brain atrophy, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired a... OMIM:619983
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Seizure, Increased circulating prolactin concentration, Tre... ORPHA:35708
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Febrile sei... ORPHA:496641
Congenital Myopathy 15
Vocal cord paralysis, Waddling gait OMIM:620161
Sialidosis Type 2
Seizure, Tremor, Ataxia ORPHA:87876
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Seizure, Ataxia ORPHA:1933
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Hepatosplenomegaly, Pancytopenia, Splenomeg... OMIM:610333
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Failure to thrive, Leukodystrophy, Ataxia, Brain atrophy OMIM:618226
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cere... OMIM:618143
Mohr-Tranebjaerg Syndrome
Shuffling gait, Global brain atrophy, Generalized dystonia, Inability to walk, Tremor, Ankle clon... ORPHA:52368
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination, Dysmetria, Ataxia OMIM:618688
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Lethargy, Seizure ORPHA:276608
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination OMIM:612949
Neurocardiofaciodigital Syndrome
Lateral ventricle dilatation, Hearing impairment, Dilated fourth ventricle, Hypoplasia of the cor... OMIM:619869
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Microcephaly, Progressive sensorineural hearing impairment ORPHA:2959
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Global brain atrophy, Cerebral palsy, Generalized non-mo... OMIM:616973
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hearing impairment, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocep... ORPHA:2720
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Krabbe Disease
Failure to thrive, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CNS dem... OMIM:245200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle dilatation, Poly... OMIM:210710
De Sanctis-Cacchione Syndrome
Spasticity, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Babinski sign, Scissor g... OMIM:278800
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination, Obesity ORPHA:521390
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Pontocerebellar atroph... OMIM:606002
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Mitochondrial Complex I Deficiency, Nuclear Type 4
Brain atrophy, Leukodystrophy, Ataxia OMIM:618225
Lissencephaly Due To Tuba1A Mutation
Spasticity, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosum, Bilateral ... ORPHA:171680
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Loss of ambulation, Impaired tandem gait, Unsteady gait, Frequent falls ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
D-Glyceric Aciduria
Cerebral cortical atrophy, Spasticity, Failure to thrive, Seizure, Focal clonic seizure, Myoclonu... OMIM:220120
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Joubert Syndrome 38
Low-set ears, Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth ho... OMIM:619476
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han... ORPHA:98794
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy, Ataxia OMIM:618242
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Cerebellar atrophy, Atonic seizure, Seizure, Inability to walk, Hyperk... OMIM:617799
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Vocal cord paralysis OMIM:615490
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Gm1 Gangliosidosis
Spasticity, Decerebrate rigidity, Generalized dystonia, Seizure, Failure to thrive, Tremor, Abnor... ORPHA:354
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Brain atrophy, Tremor, Ataxia OMIM:278760
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Orofaciodigital Syndrome Type 14
Webbed neck, Dilated third ventricle, Open operculum, Low-set, posteriorly rotated ears, Dilated ... ORPHA:434179
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ventriculomegaly, Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigidity, Torticollis, Ataxia OMIM:617186
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic... OMIM:615474
Galloway-Mowat Syndrome
Hypoplasia of the ear cartilage, Microcephaly, Pachygyria, Aqueductal stenosis, Macrotia ORPHA:2065
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Occipi... OMIM:616546
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:33355
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Myoclonus, Dysplastic corpus callosum, Tonic seizure, Clonic seizu... OMIM:617281
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Seizure, Cerebral atroph... OMIM:618426
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Brain stem compression, Increas... ORPHA:2495
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Inability... OMIM:620224
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Cerebral calcification, ... ORPHA:1855
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Spasticity, Dilated third ventricle, Resting tremor, Head tremor, Babinski sign, Ataxia ORPHA:314404
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Spasticity, Seizure, Slender build, Myoclonus, Babinski sign, Bilateral tonic... ORPHA:364028
Molybdenum Cofactor Deficiency, Type B
Seizure, Cerebral atrophy, Diffuse cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, Hyp... OMIM:252160
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Encephalocraniocutaneous Lipomatosis
Spasticity, Ventriculomegaly, Seizure, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Agenesis of ... ORPHA:2396
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Cerebral atrophy, Leukodystrophy OMIM:619851
Canavan Disease
Epileptic spasm, Brain atrophy, Bilateral tonic-clonic seizure OMIM:271900
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Ventriculomegaly, Cupped ear, Lateral ventricle dilatation, Decreased response to g... OMIM:615873
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clo... ORPHA:544503
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia ORPHA:530983
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low-set ears, Agenesis of corpus callosum, Interhypothalamic adhesion, Thickened helices, Posteri... OMIM:618929
Hyperlysinemia, Type I
Dysdiadochokinesis, Hyperactivity OMIM:238700
Adrenoleukodystrophy
Spastic paraplegia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Paraparesis, Truncal... OMIM:300100
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Hypoplasia of the pons, Sensorineural hearing impairment, Agenesis of corpus callos... OMIM:619512
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Wilson Disease
Depression, Failure to thrive, Difficulty walking, Increased body weight, Aggressive behavior, We... ORPHA:905
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Lateral ventricle dilatation, Decreased response to growth hormone sti... ORPHA:177907
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure ORPHA:91131
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Cerebral atrophy... OMIM:615802
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Neurooculorenal Syndrome
Ectopic posterior pituitary, Ventriculomegaly, Hypoplasia of the pons, Polymicrogyria, Agenesis o... OMIM:620305
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Babinski sign, Cachexia, Paralysis ORPHA:803
Optic Atrophy 11
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperactivity, G... OMIM:617302
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Delayed CNS myelination, CNS demyelination, Choreoathetosis OMIM:619653
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spastic... OMIM:614222
Peroxisomal Acyl-Coa Oxidase Deficiency
CNS demyelination, Leukodystrophy OMIM:264470
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Gait ataxia, Dista... OMIM:614871
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Abnormal cerebellar cor... ORPHA:70595
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Gait disturbance, Hypertonia ORPHA:682
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,... OMIM:105210
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Rig... OMIM:607426
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Anemia, Weight loss, Cachexia, Demyelinating peripheral neuropathy, Decreased number... ORPHA:298
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Athetosis, Leukodystrophy, Ataxia OMIM:300523
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s... ORPHA:453510
Cerebellofaciodental Syndrome
Low-set ears, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the midbrain, Microcephaly,... OMIM:616202
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Failure to thrive OMIM:614857
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Intellectual Developmental Disorder, X-Linked 98
Atonic seizure, Generalized non-motor (absence) seizure, Failure to thrive, Infantile spasms, Ton... OMIM:300912
Dpagt1-Cdg
Cerebral cortical atrophy, Global brain atrophy, CNS hypomyelination, Failure to thrive, Ataxia, ... ORPHA:86309
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Gait ataxia, CNS demyelination OMIM:249900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Delayed CNS myelination, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy OMIM:620269
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Pfeiffer Syndrome Type 1
Low-set ears, Aqueductal stenosis, Hearing impairment ORPHA:93258
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Failure to thrive, Seizure, Chorea, Infantile spasms, Gait ataxia, Hypertonia, Ataxia... ORPHA:255210
Melas
Cerebral cortical atrophy, Failure to thrive, Seizure, Abnormal central motor function, Brain atr... ORPHA:550
Sialidosis Type 1
Seizure, Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech ORPHA:812
Holoprosencephaly-Caudal Dysgenesis Syndrome
Low-set ears, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2165
Neuroblastoma, Susceptibility To, 1
Weight loss, Myoclonus, Failure to thrive, Ataxia OMIM:256700
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Splenomegaly ORPHA:100024
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination, Small for gestational age OMIM:614501
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, CNS hypomyelination, Failure to thrive in infancy, Gliosis, Ataxia, Sm... ORPHA:268261
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebral cortex mor... ORPHA:68
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination, Ataxia ORPHA:247262
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Polymicrogyria, Death in infancy, Ag... OMIM:614866
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Leukodystrophy, Hypomyelinating, 9
Cerebral atrophy, Leukodystrophy, Dysmetria, Ataxia OMIM:616140
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal... ORPHA:485421
Familial Colorectal Cancer Type X
Seizure, Paresthesia, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Weight l... ORPHA:440437
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Ventriculomegaly, Polymicrogyria, Abnormal brainstem morphology, Hypoplasia of the corpus callosu... ORPHA:370997
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity, Elevated circulating growth hormone concentration ORPHA:85327
Cockayne Syndrome
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Seizure, Cerebral atrophy, Difficult... ORPHA:191
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Seizure ORPHA:26791
Pfeiffer Syndrome Type 2
Low-set ears, Chiari malformation, Atresia of the external auditory canal, Hydrocephalus, Aqueduc... ORPHA:93259
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Seizure, Gait disturbance, Hydrocep... ORPHA:500055
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Leukodystrophy OMIM:614932
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Biotinidase Deficiency
Spastic paraparesis, Seizure, Infantile spasms, Lethargy, Bilateral tonic-clonic seizure, Ataxia,... ORPHA:79241
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Ventriculomegaly, Progressive ventriculomegaly, Abnormal cerebral cortex morphology... ORPHA:500150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, Partial agenesis of the corpus... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Bilater... OMIM:614947
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Neurodegeneration, Paroxysmal... ORPHA:79244
Kabuki Syndrome 1
Low-set ears, Hearing impairment, Lateral ventricle dilatation, Recurrent otitis media, Protrudin... OMIM:147920
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Broad-based gait, Ventriculomegaly, Limb ataxia, Paralysis, Bilateral tonic-c... ORPHA:2072
Poliomyelitis
Fasciculations, Inability to walk, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Multiple Sclerosis, Susceptibility To
Paresthesia, CNS demyelination OMIM:126200
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Elevated circulating growth hormone concentration OMIM:608747
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Ap... OMIM:216360
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Holoprosencephaly 13, X-Linked
Low-set ears, Hearing impairment, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Septo-... OMIM:301043
Chromosome 1P36 Deletion Syndrome, Distal
Leukoencephalopathy, Cerebral cortical atrophy, Low-set ears, Conductive hearing impairment, Late... OMIM:607872
Meckel Syndrome, Type 1
Low-set ears, Webbed neck, Ventriculomegaly, Occipital encephalocele, Chiari malformation, Dilate... OMIM:249000
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Microtia ORPHA:1788
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Failure to thrive, Gliosis, Seizure ORPHA:261652
47,Xyy Syndrome
Low-set ears, Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysp... ORPHA:8
Non-Functioning Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:94080
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination, Cerebellar atrophy, Cerebral atrophy OMIM:619641
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula... ORPHA:466768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Ventriculomegaly, Occipital encephalocele, Atresia of the external auditory canal, ... OMIM:236670
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis, Seizure OMIM:176000
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Gait imbalance, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Tr... OMIM:211530
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Cerebral palsy, Brain atrophy, Appendicular spasticity, Limb hypertonia, Bilat... OMIM:620070
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Stillbirth, Dandy-Walker malformat... OMIM:616300
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
East Syndrome
Cerebellar atrophy, Seizure, Difficulty walking, Generalized-onset seizure, Inability to walk, Ac... ORPHA:199343
Joubert Syndrome
Seizure, Tremor, Oculomotor apraxia, Gait disturbance, Hydrocephalus, Ataxia ORPHA:475
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Ataxia, Paroxysmal bursts of l... OMIM:105830
Infantile Krabbe Disease
Hyperesthesia, Spasticity, Failure to thrive, Seizure, Myoclonus, Ankle clonus, Diffuse cerebral ... ORPHA:206436
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Acanthocytosis, Ataxia OMIM:200100
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic moveme... OMIM:616271
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Abnormality of the outer ear, Polymicrogyria, Secondary microcephaly, Absent septum... OMIM:618820
Gaucher Disease, Perinatal Lethal
Akinesia, Dysphagia, Decreased body weight OMIM:608013
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls ORPHA:329478
Gitelman Syndrome
Paralysis, Failure to thrive, Seizure, Ataxia OMIM:263800
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet... ORPHA:79102
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop... ORPHA:507
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Cerebral atrophy, Leukodystrophy OMIM:615330
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Vocal cord paralysis, Poor fine moto... ORPHA:99956
Mulibrey Nanism
Cachexia ORPHA:2576
Angelman Syndrome
Cerebral cortical atrophy, Broad-based gait, Atonic seizure, Seizure, Inability to walk, Obesity,... ORPHA:72
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:263520
Molybdenum Cofactor Deficiency, Type A
Seizure, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, Spastic tetraparesis, Spastic... OMIM:252150
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure OMIM:616351
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity, Sensorineural hearin... ORPHA:529808
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Paresthesia, Weight loss ORPHA:3165
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Cerebellar atrophy, Inability to walk, Generalized-onset seizure, Bilateral... OMIM:620066
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure OMIM:618381
African Trypanosomiasis
Involuntary movements, Ventriculomegaly, Seizure, Fasciculations, Abnormal central motor function... ORPHA:3385
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Craniopharyngioma
Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism, Vertigo, Abno... ORPHA:54595
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizure, Gliosis, Ataxia OMIM:124000
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Failure to thrive, Leukodystrophy, Nonprogressive cerebellar ataxia, Choreoat... ORPHA:431361
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pfeiffer Syndrome Type 3
Low-set ears, Chiari malformation, Hearing impairment, Stenosis of the external auditory canal, A... ORPHA:93260
Moynahan Syndrome
Cachexia, Seizure ORPHA:2574
Alexander Disease
Spasticity, Failure to thrive, Seizure, Chorea, Tremor, Agenesis of corpus callosum, Abnormal pyr... ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy, Ataxia OMIM:619224
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Cerebral calcification ORPHA:3035
Linear Skin Defects With Multiple Congenital Anomalies 1
Hearing impairment, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocep... OMIM:309801
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteriorly ro... ORPHA:2754
Insulinoma
Seizure, Paresthesia, Tremor, Increased body weight, Lethargy, Abnormality of pain sensation ORPHA:97279
Tick-Borne Encephalitis
Tongue fasciculations, Generalized-onset seizure, Speech apraxia, Incoordination, Tremor, Hyperki... ORPHA:297
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Myoclonus, Gait ataxia, Action tr... OMIM:254900
Classic Phenylketonuria
Seizure, Hemiplegia, Paraplegia, Tremor, Hypertonia ORPHA:79254
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Wolfram Syndrome 1
Cerebral atrophy, Seizure, Tremor, Ataxia OMIM:222300
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98863
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Myoclonic seizure, Failure to thrive, Generalized non-motor (absence) seizure, Seizur... OMIM:620455
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Apraxia, Weight loss, Bilateral tonic-clonic seizure, Ataxia, Generalized myoc... ORPHA:99885
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Obesity, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98853
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Alg8-Cdg
Cerebral cortical atrophy, Failure to thrive, Leukodystrophy, Thrombocytopenia, Ataxia, Anemia, S... ORPHA:79325
Schilder Disease
CNS demyelination, Ataxia ORPHA:59298
Vacterl With Hydrocephalus
Abnormality of the outer ear, Microtia, third degree, Anotia, Hydrocephalus, Spina bifida, Aquedu... ORPHA:3412
Orofaciodigital Syndrome Xiv
Low-set ears, Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar... OMIM:615948
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis ORPHA:258
Leukodystrophy, Hypomyelinating, 13
Delayed CNS myelination, Failure to thrive, Leukodystrophy, Ataxia OMIM:616881
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Lower limb hypertonia OMIM:169400
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Tremor, Bilateral tonic-clonic seizure, Ataxia, Dystonia OMIM:610505
Beta-Ketothiolase Deficiency
Spasticity, Seizure, Weight loss, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Infantile spasms, Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:618733
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Neuroblastoma
Myoclonus, Weight loss, Antalgic gait, Ataxia ORPHA:635
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Low-set ears, Microcephaly, Colpocephaly, Small earlobe OMIM:620083
Tyrosinemia Type 2
Seizure, Tremor, Ataxia ORPHA:28378
Immunodeficiency 23
Somatic sensory dysfunction, Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, ... OMIM:615816
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Low-set, posteriorly rotated ears, Hypoplasi... ORPHA:75857
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Cerebellar atrophy, Failure to thrive, Leukodystrophy, Cerebral atroph... OMIM:615471
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Hypoplastic anterior commissure, Lateral ventricle dilatatio... ORPHA:261552
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Low-set ears, Posteriorly rotated ears, Encephalocele, Exencephaly ORPHA:2211
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Focal hyperkinetic seizure, Paroxysmal dystonia, Nocturnal seizures, Bilat... ORPHA:98784
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Seizure, Failure to thrive, Dysmetria, Tremor, Neck hypert... ORPHA:2203
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance ORPHA:2774
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... OMIM:617798
Inhalational Botulism
Paralysis ORPHA:254504
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Facial paralysis, Failure to thrive, Difficulty walkin... ORPHA:99949
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Failure to thrive, Seizure, Corpus callosum atrophy, Gliosis, Bilateral tonic... OMIM:261515
Congenital Bile Acid Synthesis Defect Type 4
Seizure, Tremor, Ataxia ORPHA:79095
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:300896
Leukodystrophy, Hypomyelinating, 4
Choreoathetosis, Leukodystrophy OMIM:612233
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Niemann-Pick Disease Type C
Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal pyramidal sign,... ORPHA:646
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Dysmetria, Gait disturbance, Hyperactivity, Ataxia, Dysphagia ORPHA:139396
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Severe failure to thrive, Clonus, Limb hypertonia, Bilateral tonic-clonic seizure,... ORPHA:423479
Waardenburg Syndrome, Type 4A
Leukodystrophy, Ataxia OMIM:277580
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis, Seizure ORPHA:37553
Ataxia-Telangiectasia
Failure to thrive, Seizure, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dysto... OMIM:208900
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa... OMIM:612716
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Hearing impairment, ... OMIM:619534
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Failure to thrive, Tremor, Ataxia OMIM:201100
Rhabdoid Tumor
Weight loss, Irritability ORPHA:69077
Follicular Lymphoma
Weight loss, Splenomegaly ORPHA:545
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Cerebellar atrophy, Failure to thrive, Babinski sign, Lethargy... OMIM:252010
Gabriele-De Vries Syndrome
Tremor, Agenesis of corpus callosum, Gliosis, Dystonia, Small for gestational age, Waddling gait ORPHA:506358
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Pyruvate Carboxylase Deficiency
Athetosis, Leukodystrophy OMIM:266150
Metachromatic Leukodystrophy
Tip-toe gait, Decerebrate rigidity, Seizure, Incoordination, Tremor, Gait disturbance, Ataxia, Dy... ORPHA:512
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Ataxia ORPHA:401866
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Vertigo, Abnormal brainstem morphology, Hearing impairment ORPHA:79279
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Weight loss, Ataxia, Brain atrophy OMIM:164310
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Seizure, Myoclonus, Spastic hemiparesis, Lethargy, Weight loss, Ataxia ORPHA:20
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Seizure, Severe failure to thrive, Cachexia, Spastic tetraplegia ORPHA:371364
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Cerebral cortical atrophy, Broad-based gait, Hand tremor, Seizure, Hippocampal atrophy, Gait atax... OMIM:614756
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Leukodystrophy OMIM:612952
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Arima Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Brainstem dysplasia, Dilated fourth ve... OMIM:243910
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly, Microcephaly, Sensorineural hearing impairment OMIM:618460
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Splenomegaly, CNS demyelination, ... OMIM:272200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormal basal ganglia morphology, Thalamic hemorrhage ORPHA:464321
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Seizure, Ataxia OMIM:212750
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebral cortical atrophy, Myoclonic seizure, Focal impaired awareness seizure, Small for gestati... OMIM:620024
Trigeminal Neuralgia
Peripheral demyelination, Paresthesia, CNS demyelination, Somatic sensory dysfunction ORPHA:221091
Polymyositis
Gait disturbance, Weight loss, Anorexia ORPHA:732
Attrv30M Amyloidosis
Weight loss ORPHA:85447
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Seizure, Obesity, Tremor, Cachexia ORPHA:85293
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Whipple Disease
Seizure, Myoclonus, Cachexia, Abnormal pyramidal sign, Ataxia ORPHA:3452
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Cerebral hypomyelination, Brain atrophy ORPHA:447997
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis ORPHA:142
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Amish Lethal Microcephaly
Limb hypertonia, Bilateral tonic-clonic seizure, Agenesis of corpus callosum ORPHA:99742
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Parkinson Disease 4, Autosomal Dominant
Dementia, Weight loss OMIM:605543
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Seizure, Intention tremor, Tremor, Ataxia, Small for gestational age OMIM:614052
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Limb ataxia, Leukodystrophy OMIM:619051
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Steppage gait OMIM:601152
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous absces... ORPHA:47
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Cerebral atrophy, Sideroblastic anemia, Splenomegaly, Delayed CNS myelination, B l... OMIM:616084
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Myoclonic seizure, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response OMIM:620327
Cockayne Syndrome Type 3
Astrocytosis ORPHA:90324
Glossopharyngeal Neuralgia
Weight loss, Seizure, Dysesthesia, Vocal cord paralysis ORPHA:221098
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Gliosis OMIM:606688
Wiedemann-Rautenstrauch Syndrome
CNS hypomyelination, Failure to thrive, Leukodystrophy, Slender build, Agenesis of corpus callosu... ORPHA:3455
Kallmann Syndrome
Seizure, Paraplegia, Obesity, Tremor, Gait disturbance, Ataxia, Anterior hypopituitarism ORPHA:478
Bone Dysplasia, Lethal Holmgren Type
Anemia, Weight loss, Failure to thrive ORPHA:1842
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Anorexia ORPHA:65682
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Vocal cord paresis, Unsteady gait ORPHA:600
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Smith-Lemli-Opitz Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Death in infancy, Hypoplasia of the cor... OMIM:270400
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Glass Syndrome
Bilateral tonic-clonic seizure, Broad-based gait, Seizure, Febrile seizure (within the age range ... OMIM:612313
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, ... OMIM:603553
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Convulsive status epilepticus, Spasticity, Seizure, Inability to walk, Hypertonia, Ataxia OMIM:608885
Joubert Syndrome With Hepatic Defect
Seizure, Tremor, Oculomotor apraxia, Gait disturbance, Hydrocephalus, Ataxia ORPHA:1454
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Focal Myositis
Weight loss ORPHA:48918
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Adr... ORPHA:251937
Takayasu Arteritis
Weight loss, Anorexia ORPHA:3287
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Giant Cell Arteritis
Ataxia, Depression, Paresthesia, Weight loss, Anorexia ORPHA:397
Leukodystrophy, Progressive, Early Childhood-Onset
Cerebral atrophy, Leukodystrophy OMIM:617762
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Demyelinating peripheral neuropath... ORPHA:99867
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Chediak-Higashi Syndrome
Seizure, Neurodegeneration, Tremor, Gait disturbance, Ataxia OMIM:214500
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Seizure, Somatic sensory dysfunction, Torticollis ORPHA:370348
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebral cortical atrophy, Difficulty walking, Slender build, Large for gestational age, Gait ata... ORPHA:457359
Secondary Syringomyelia
Somatic sensory dysfunction, Paresthesia, CNS demyelination, Sensory ataxia, Progressive cerebell... ORPHA:99857
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Anemia, Subcortical cerebral atrophy, Hypochromic microcytic anemia ORPHA:440713
Mcdonough Syndrome
Cachexia ORPHA:2471
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Polymicrogyr... OMIM:154400
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia OMIM:620047
Pineoblastoma
Paralysis, Lethargy, Seizure ORPHA:251909
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Cerebral white matter hypoplasia, Hypoplasia of the corpus callosum ORPHA:477993
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:276621
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Webbed neck, Hearing impairment, Umbilical hernia, Low-set, p... ORPHA:138
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Seizure, Agenesis of corpus callosum, Tetraplegia, Bilateral tonic-clo... OMIM:257300
Hallermann-Streiff Syndrome
Small for gestational age, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:234100
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Gait disturbance, Weight loss, Hemiplegia/hemiparesis ORPHA:183
Cryptogenic Organizing Pneumonia
Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Dementia, Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia, Dysphagia OMIM:603041
Wild Type Attr Amyloidosis
Impaired vibratory sensation, Weight loss ORPHA:330001
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Renpenning Syndrome
Cachexia, Seizure ORPHA:3242
3-Methylglutaconic Aciduria, Type Viii
Ventriculomegaly, Failure to thrive, Seizure, Tremor, Clonus, Hypertonia, Dystonia OMIM:617248
Marchiafava-Bignami Disease
Gait ataxia, CNS demyelination, Ataxia ORPHA:221074
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Periodic hypokalemic paresis, Increased circulating prolacti... ORPHA:91347
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Polymicrogyria, Secondary micr... ORPHA:261537
Argininemia
Spastic gait, Hyperactivity, Anorexia OMIM:207800
Lynch Syndrome
Seizure, Paresthesia, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Weight l... ORPHA:144
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Myoclonic seizure, Seizure, Cerebral atrophy, Large for gestational age, Gait a... OMIM:280000
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Agenesis of corpus callosum ORPHA:238769
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Weight loss, Leukocytosis ORPHA:2070
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Tetraparesis, Tremor, Ataxia, Spastic diplegia OMIM:613179
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination, Cerebral atrophy, Decreased body weight OMIM:614886
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cerebral hypomyelination, Gait ataxia, Failure to thrive ORPHA:513456
Alveolar Echinococcosis
Weight loss, Hemiparesis, Seizure, Ataxia ORPHA:284
Riddle Syndrome
Poor hand-eye coordination, Clumsiness, Gait disturbance, Weight loss, Ataxia ORPHA:420741
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Papillorenal Syndrome
Gliosis, Seizure OMIM:120330
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Cerebellar atrophy, Ataxia OMIM:610651
Refractory Celiac Disease
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... ORPHA:398063
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Agitation, Small for gestational age ORPHA:424
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Bilateral tonic-clonic seizure OMIM:201475
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia ORPHA:231160
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy, Ataxia OMIM:614299
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Confusion, Cachexia, Ataxia ORPHA:220295
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Increased circulating prolactin concentration, Decreased response t... ORPHA:293987
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Ventriculomegaly, Seizure, Extrapyramidal muscular rigidity, Dif... ORPHA:51
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:612199
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Leukodystrophy, Failure to thrive in infancy, Hepatosplen... ORPHA:79124
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Ventriculomegaly, Seizure, Loss of ambulation, Abnormal pyramidal... ORPHA:581
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Leukodystrophy OMIM:614462
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93924
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Brain atrophy, Myoclonus, Bilateral t... OMIM:619297
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Triosephosphate Isomerase Deficiency
Spasticity, Failure to thrive, Cerebral atrophy, Tremor, Unsteady gait, Dystonia OMIM:615512
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Irritability ORPHA:92050
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Ring Chromosome 10 Syndrome
Cachexia, Seizure ORPHA:1438
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Ventriculomegaly, Abnormal brainstem morphology, Hypoplasia of the cor... ORPHA:464311
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Genera... ORPHA:459070
Behçet Disease
Ataxia, Memory impairment, Confusion, Paresthesia, Irritability, Gait disturbance, Weight loss, A... ORPHA:117
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Osteosarcoma
Weight loss ORPHA:668
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t... OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, Polyphagia, Attention... OMIM:620330
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:29072
Pemphigus Vulgaris
Depression, Weight loss ORPHA:704
Vici Syndrome
Dysphagia, Abnormal posturing, Failure to thrive, Agenesis of corpus callosum OMIM:242840
Cap Polyposis
Weight loss ORPHA:160148
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Global brain atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Generalized to... ORPHA:369837
Distal Renal Tubular Acidosis
Paralysis, Failure to thrive ORPHA:18
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, Aqueductal stenosis OMIM:306955
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Familial Thrombocytosis
Chronic myelogenous leukemia, Paresthesia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thr... ORPHA:71493
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Arnold-Chiari Malformation Type I
Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia ORPHA:268882
Ménétrier Disease
Weight loss, Anorexia ORPHA:2494
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia, Anorexia OMIM:175500
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Abnormal corpus callosum morphology, Conductive hearing impairment, Secondary micro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Abnormal corpus callosum morphology, Conductive hearing impairment, Secondary micro... ORPHA:353277
Primary Intestinal Lymphangiectasia
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Anemia, Decreased p... ORPHA:90362
Acrodermatitis Enteropathica
Weight loss, Emotional lability, Failure to thrive, Anorexia ORPHA:37
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Weight loss, Obesity ORPHA:251071
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 59
CNS demyelination, Failure to thrive OMIM:620646
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Pancytopenia, Hemolytic anemia, Splenomegaly, Weight loss, ... OMIM:615846
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure OMIM:301040
Gitelman Syndrome
Paralysis, Focal-onset seizure, Failure to thrive ORPHA:358
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss, Seizure ORPHA:679
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Erdheim-Chester Disease
Weight loss, Ataxia ORPHA:35687
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, CNS demyelination, Splenomegaly, Cerebral atrophy OMIM:225750
Gaucher Disease
Tremor, Abnormality of extrapyramidal motor function, Hemiplegia/hemiparesis, Oculomotor apraxia,... ORPHA:355
Polyarteritis Nodosa
Weight loss ORPHA:767
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Resting tremor, Seizure ORPHA:319213
Late-Onset Isolated Acth Deficiency
Lethargy, Weight loss, Failure to thrive, Anorexia ORPHA:199299
Polycythemia Vera
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Cocaine Intoxication
Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp... ORPHA:90068
Genitopatellar Syndrome
Hearing impairment, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Thin cor... OMIM:606170
Webb-Dattani Syndrome
Spasticity, Obesity, Bilateral tonic-clonic seizure OMIM:615926
Bullous Pemphigoid
Weight loss ORPHA:703
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation, Seizure ORPHA:91139
Tetrasomy 12P
Cachexia ORPHA:884
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Systemic Capillary Leak Syndrome
Weight loss, Leukocytosis ORPHA:188
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Ventriculomegaly, Hearing impairment, Macrotia, Recurrent otitis media, Mild hearin... OMIM:616462
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis, Seizure OMIM:617403
Poems Syndrome
Hyperesthesia, Polycythemia, Paresthesia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:2905
Hurler Syndrome
Neurodegeneration, Hepatosplenomegaly, Abnormal CNS myelination, Splenomegaly OMIM:607014
Adrenocortical Carcinoma
Increased body weight, Weight loss, Irritability ORPHA:1501
Codas Syndrome
Vocal cord paresis, Ventriculomegaly, Seizure OMIM:600373
Adult-Onset Still Disease
Leukocytosis, Splenomegaly, Weight loss, Neutrophilia, Anemia ORPHA:829
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Weight loss ORPHA:465508
Monosomy 18Q
Failure to thrive, Slender build, Astrocytoma, Abnormal myelination, Choreoathetosis ORPHA:1600
Neuroendocrine Tumor Of The Colon
Weight loss, Anorexia ORPHA:100080
Rere-Related Neurodevelopmental Syndrome
CNS demyelination ORPHA:494344
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Elevated circulating creatinine concentration, Hepatosplenomegaly, Weight loss ORPHA:85450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Weight loss ORPHA:324964
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis OMIM:606071
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Nephroblastoma
Weight loss ORPHA:654
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Aredyld Syndrome
Cachexia, Splenomegaly ORPHA:1133
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess ORPHA:67
Yao Syndrome
Weight loss OMIM:617321
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia, Weight loss ORPHA:400
Familial Glucocorticoid Deficiency
Weight loss, Failure to thrive, Anorexia ORPHA:361
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Multiple Myeloma
Elevated circulating creatinine concentration, Paresthesia, Splenomegaly, Weight loss, Anemia ORPHA:29073
Mucolipidosis Type Ii
Inability to walk, Weight loss, Cognitive impairment ORPHA:576
Bronchial Neuroendocrine Tumor
Weight loss, Anorexia ORPHA:97287
Neuroendocrine Tumor Of The Rectum
Weight loss, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Anorexia ORPHA:100082
Schinzel-Giedion Syndrome
Spasticity, Ventriculomegaly, Seizure, Failure to thrive in infancy, Epileptic spasm, Choroid ple... ORPHA:798
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Gait ataxia, Leukodystrophy ORPHA:309256
Tyrosinemia, Type I
Periodic paralysis, Failure to thrive OMIM:276700
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Obesity, Simple febrile seizure, Truncal obesity, Bilateral tonic-clonic... ORPHA:466950
Monosomy 22Q13.3
Bruxism, Obesity, Hyperactivity, Hair-pulling ORPHA:48652
Rheumatoid Arthritis
Weight loss OMIM:180300
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly ORPHA:33577
Isolated Complex I Deficiency
Failure to thrive, Leukodystrophy, Ataxia ORPHA:2609
Short Syndrome
Weight loss ORPHA:3163
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatosplenomegaly, Hypersplenism, Cachexia, Weight loss, Anemia, Vacuolated l... ORPHA:275761
Osteootohepatoenteric Syndrome
Anemia, Weight loss, Failure to thrive OMIM:619377
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Involuntary movements, Bilateral tonic-clonic seizure on awakening, Seizure, In... ORPHA:438213
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Anorexia ORPHA:100085
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Igg4-Related Thyroid Disease
Vocal cord paralysis, Abnormal pituitary gland morphology ORPHA:64744
Brucellosis
Granuloma, Failure to thrive, Chorea, Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Weig... ORPHA:1304
Budd-Chiari Syndrome
Weight loss, Splenomegaly ORPHA:131
Diets-Jongmans Syndrome
Gliosis, Seizure OMIM:618846
Williams Syndrome
Chiari malformation, Umbilical hernia, Low-set, posteriorly rotated ears, Death in early adulthoo... ORPHA:904
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Splenomegaly, Cachexia, Iron deficienc... ORPHA:37042
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Schwartz-Jampel Syndrome
Decreased body weight, Irritability, Attention deficit hyperactivity disorder, Gait disturbance, ... ORPHA:800
Camurati-Engelmann Disease
Slender build, Waddling gait, Cachexia, Ataxia ORPHA:1328
Lymphoid Interstitial Pneumonia
Weight loss, Failure to thrive ORPHA:79128
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dissociated sensory loss, Paresthesia,... ORPHA:139417
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss ORPHA:85443
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Leukodystrophy ORPHA:309263
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Dysphagia, Failure to thrive ORPHA:1018
Wilson Disease
Face of the giant panda sign OMIM:277900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Decreased body weight, Increased body weight, Weight loss... ORPHA:2298
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Ogden Syndrome
Cerebral atrophy, Generalized-onset seizure, Hypertonia, Torticollis, Bilateral tonic-clonic seizure OMIM:300855
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Chorea, Leukodystrophy ORPHA:309271
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis OMIM:608710
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Hypertonia, Bilateral tonic-clonic seizure, Spastic tetraparesis, Mult... OMIM:301044
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia ORPHA:781
Acute Adrenal Insufficiency
Salt craving, Weight loss, Failure to thrive, Anorexia ORPHA:95409
Caroli Disease
Weight loss, Leukocytosis, Splenomegaly, Liver abscess ORPHA:53035
Norrie Disease
Cerebral cortical atrophy, Abnormal helix morphology, Sensorineural hearing impairment, Protrudin... ORPHA:649
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Weight loss ORPHA:49041
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Impaired lymphocyte transfor... OMIM:614162
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia ORPHA:36426
Systemic Lupus Erythematosus
Chorea, Weight loss, Seizure ORPHA:536
Castleman Disease
Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia ORPHA:160
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Tremor, Truncal obesity, Bil... OMIM:612474
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:537
Gallbladder Neuroendocrine Tumor
Weight loss, Anorexia ORPHA:100086
Neuroendocrine Tumor Of Stomach
Weight loss, Anorexia ORPHA:100075
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Failure to thrive, Cerebral atrophy, Failure to thrive ... OMIM:219800
Histidinemia
Hyperactivity ORPHA:2157
Pyomyositis
Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Seckel Syndrome
Cachexia, Cognitive impairment ORPHA:808
Degcags Syndrome
Ventriculomegaly, Failure to thrive, Agenesis of corpus callosum, Vocal cord paralysis, Small for... OMIM:619488
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Kikuchi-Fujimoto Disease
Weight loss, Ataxia ORPHA:50918
Klatskin Tumor
Weight loss ORPHA:99978
Glycogen Storage Disease Ii
Abnormal CNS myelination, Splenomegaly OMIM:232300
Xfe Progeroid Syndrome
Poor coordination, Cachexia, Failure to thrive OMIM:610965
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Hermansky-Pudlak Syndrome
Weight loss, Anorexia ORPHA:79430
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Spasticity, Seizure OMIM:301030
Familial Pancreatic Carcinoma
Weight loss, Anorexia ORPHA:1333
Esophageal Atresia
Failure to thrive in infancy, Vocal cord paresis, Small for gestational age, Hypertonia ORPHA:1199
Multiple Endocrine Neoplasia Type 1
Depression, Confusion, Short attention span, Lethargy, Weight loss, Anorexia ORPHA:652
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Reactive Arthritis
Weight loss, Cognitive impairment ORPHA:29207
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Obesity, Decrease... OMIM:619475
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia ORPHA:647
Trisomy 18
Cachexia, Cognitive impairment ORPHA:3380
Addison Disease
Salt craving, Weight loss, Failure to thrive, Anorexia ORPHA:85138
Microsporidiosis
Brain abscess, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ca... ORPHA:2552
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Seizure ORPHA:109
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:615465
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Fanconi Anemia
Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Glucagonoma
Depression, Weight loss, Anorexia ORPHA:97280
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Dysphagia, Failure to thrive ORPHA:2020
Parathyroid Carcinoma
Polydipsia, Weight loss, Dysphagia ORPHA:143
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss ORPHA:309031
Sotos Syndrome
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Cerebral atrophy... ORPHA:821
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Weight loss ORPHA:85408
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss, Seizure ORPHA:900
Primary Sclerosing Cholangitis
Depression, Weight loss ORPHA:171
Rat-Bite Fever
Anemia, Weight loss ORPHA:31205
Ppoma
Weight loss, Anorexia ORPHA:97278
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Depression, Emotional lability, Increased body weight, Abdominal obesity, Weig... ORPHA:99889
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Pancreatoblastoma
Weight loss ORPHA:677
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss ORPHA:100078
Somatostatinoma
Weight loss, Anorexia ORPHA:97283
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Eosinophilia, Weight loss ORPHA:449395
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Vipoma
Weight loss, Anorexia ORPHA:97282
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, Weight lo... OMIM:619381
Grfoma
Weight loss, Anorexia ORPHA:97261
Rabson-Mendenhall Syndrome
CNS demyelination ORPHA:769
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Tropical Pancreatitis
Weight loss ORPHA:103918
Postinfectious Vasculitis
Weight loss, Anorexia ORPHA:48435
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Refractory anemia ORPHA:79076
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Elevated circulating creatinine concentration, Reduced hematocr... ORPHA:91500
Nocardiosis
Weight loss, Brain abscess, Cutaneous abscess, Liver abscess ORPHA:31204
Williams-Beuren Syndrome
Incoordination, Failure to thrive in infancy, Obesity, Gait imbalance, Vocal cord paralysis, Poor... OMIM:194050
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Weight loss ORPHA:3337
Sarcoidosis, Susceptibility To, 1
Weight loss, Anorexia OMIM:181000
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Hemolyti... ORPHA:797
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Marfan Syndrome
Slender build, Attention deficit hyperactivity disorder, Cachexia ORPHA:558
Dermatomyositis
Weight loss, Dysphagia ORPHA:221
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss, Thrombocytopenia ORPHA:79078
Chronic Graft Versus Host Disease
Weight loss, Dysphagia, Anorexia ORPHA:99921
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Failure to thrive ORPHA:90794
Stickler Syndrome
Slender build, Cachexia, Hemiplegia/hemiparesis ORPHA:828
Proteus Syndrome
Cachexia, Seizure ORPHA:744
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly ORPHA:75565

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 Htt

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 Htt.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss-of-Huntingtin in Medial and Lateral Ganglionic Lineages Differentially Disrupts Regional Interneuron and Projection Neuron Subtypes and Promotes Huntington's Disease-Associated Behavioral, Cellular, and Pathological Hallmarks. The Journal of Neuroscience (January 2019) Htttm1a(EUCOMM)Wtsi PMC6407290

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Htttm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Htttm48497(L1L2_gt2_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Httem1(IMPC)H Exon Deletion Mice
Htttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Htttm48497(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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