Gene Summary

Name:
microtubule-associated protein tau
Synonyms:
Mtapt,  Tau

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fluid intake Mapttm1b(EUCOMM)Hmgu HOM   Early adult 4.45×10-05
decreased grip strength Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-05
abnormal retina vasculature morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
abnormal retina blood vessel morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
decreased exploration in new environment Mapttm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-10
persistence of hyaloid vascular system Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.45×10-10
decreased total retina thickness Mapttm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-07
polycystic kidney Mapttm1b(EUCOMM)Hmgu 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Mapt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mapt by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Semantic Dementia
Dementia ORPHA:100069
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, Astrocytosis, Fasciculations, Upper motor neur... ORPHA:275864
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Mental deterioration, Deficit in phonologic short-term memory, Apathy ORPHA:240112
Supranuclear Palsy, Progressive, 1
Senile plaques, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Cerebral atrophy,... OMIM:601104
Pick Disease Of Brain
Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropriate laughter, Dimin... OMIM:172700
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... ORPHA:240071
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Dystonia, Short stepped shuffling gait OMIM:168600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Loss of ambulation, Blepharospasm, Freezing of gait, Spastic dysarthria... ORPHA:240094

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Hypertonia, Decreased body weight, Short stature, Babinski sign, Cogwheel rigidity, Developmental... OMIM:618284
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Limb muscle weakness, Abno... OMIM:614373
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Developmental cataract, Distal sensory impairment, Short stature OMIM:212710
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... OMIM:613954
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Decreased... OMIM:612577
Spinal Muscular Atrophy, Type Iii
Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle ... OMIM:253400
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Neuronal loss in central nervous system, Proximal ... OMIM:608030
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... ORPHA:275872
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... OMIM:253550
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... OMIM:105400
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Babinski sign, Distal amyotrophy, Abnorma... OMIM:602099
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Cognitive impairment, Abnormality of the kidney, Retinal dystrophy, Renal cys... OMIM:615987
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Distal upper limb amyotrophy, Abnormality of periphe... ORPHA:65684
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity OMIM:614808
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness OMIM:619141
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stature, Gait disturbance, Cataract, I... ORPHA:2815
Dysequilibrium Syndrome
Ataxia, Short stature, Cerebral palsy, Gait disturbance, Cataract ORPHA:1766
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Atrophy/Degeneration involving the caudate nucleus, Myoclonus, Babinski sign,... ORPHA:225154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Fasciculations, T... OMIM:604484
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis, Short stature OMIM:312910
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spasticity, ... ORPHA:247604
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Immunodeficiency 8
Hyperactivity OMIM:615401
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Cerebellar Ataxia And Albinism
Albinism, Head tremor, Ataxia OMIM:258300
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Skeletal muscle atrophy OMIM:612069
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Cognitive impairment, Renal agenesis, Abnormality of th... OMIM:615993
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Tremor, Cataract, Spasticity, Growth delay OMIM:278780
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Fatigable weakness of bu... ORPHA:803
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells,... OMIM:607596
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial m... OMIM:205100
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Short stature, Truncal ataxia, Unsteady gait OMIM:614063
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk, Impaired social interactions OMIM:606053
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Premature graying of hair, Ataxia OMIM:190200
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Semantic Dementia
Dementia ORPHA:100069
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Degeneration of anterior horn cells, Facial palsy, Fasciculations, Progressive distal ... OMIM:159950
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Babinski sign, ... ORPHA:320370
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired distal vibration sensation, Gait ... ORPHA:101108
Senior-Loken Syndrome 4
Polydipsia, Rod-cone dystrophy, Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Abnormal pyramidal sign, ... OMIM:608627
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Spast... OMIM:606353
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Huntington Disease-Like 2
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia ORPHA:98934
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal p... ORPHA:204
Urocanase Deficiency
Ataxia, Fair hair, Blue irides, Short stature, Tremor OMIM:276880
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Hand tremor, Dysmetria, Axonal degeneration, Decreased motor n... OMIM:302800
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Facial pal... OMIM:301830
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Chorea, Remitting, With Nystagmus And Cataract
Cataract, Chorea OMIM:601372
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, U... OMIM:302802
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... ORPHA:282166
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis, Myelopathy OMIM:159580
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, EMG: myopathic abnormali... ORPHA:52430
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Somatic sensory dysfunction... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Hanac Syndrome
Renal insufficiency, Retinal vascular tortuosity, Hematuria, Multiple renal cysts ORPHA:73229
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski ... ORPHA:251282
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Tongue fasciculations OMIM:613435
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Short stature, Tremor, Developmental cataract ORPHA:1368
Glutathionuria
Tremor OMIM:231950
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Weakness of facial ... ORPHA:1145
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Cataract, Spasticity OMIM:617393
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal synaptic transmission at the neuromuscular junction, Cere... ORPHA:1320
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, A... ORPHA:95434
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Abnormal nerve conductio... ORPHA:99014
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Bardet-Biedl Syndrome 17
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Micropenis, Cognitive impairment, Polyuria,... OMIM:615994
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Unsteady gait, In... OMIM:213200
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Moynahan Syndrome
Cachexia, Short stature, Sparse hair, Alopecia ORPHA:2574
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Poor eye contact, Myoclonus, Tremor, Dystonia OMIM:619651
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Short stature, Intention ... ORPHA:284332
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Foot dorsiflexor weakness, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Progressive... ORPHA:496756
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... OMIM:604317
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Short stature... OMIM:617284
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Abnormal neuron morphology, Motor det... ORPHA:412066
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Ataxia, Amyotrophic lateral sclerosis, Lower-limb joint contracture, Muscle fiber atr... ORPHA:300605
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia OMIM:606438
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Mast Syndrome
Spastic paraparesis, Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Apraxia OMIM:248900
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Babinski sign, Weakness due to upper motor neuron dysfunction, Spas... ORPHA:35689
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Retinal degeneration, Nephronophthisis, Polyuria, Tubular base... OMIM:613550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Babinski sign, Parkinsonism, Ne... OMIM:615911
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis, Truncal ataxia,... OMIM:224050
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Dystonia, Short stature OMIM:616113
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Short stature, Intention tremor, Gait ataxia, Spasticity OMIM:608029
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Gait ataxia, Cachexia OMIM:612075
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Chorea, Benign Familial
Chorea OMIM:215450
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Short stature OMIM:300271
Cataract 11, Multiple Types
Hypertonia, Cataract, Chorea OMIM:610623
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Polyp... OMIM:615986
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Poor eye contact, Involuntary movements, Spasticity, Impaire... OMIM:617820
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Progressive spastic paraplegia, Cataract, Lower limb spasticity ORPHA:401830
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Myoclonus, Iris hypopigmentation, Tremor ORPHA:97229
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Spasticity, Small for gestational age OMIM:212540
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Frontotemporal cerebral atrophy, Astrocytosis, Fasciculations, Upper motor neur... ORPHA:275864
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Polycystic kidney dysplasia, Retinal dystrophy OMIM:263100
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, ... OMIM:118301
Christianson Syndrome
Motor stereotypy, Thick eyebrow, Cachexia, Truncal ataxia, Gait ataxia, Dystonia ORPHA:85278
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Somatic sensory dysfunction, Tre... ORPHA:98763
Flynn-Aird Syndrome
Ataxia, Alopecia, Cachexia, Cataract, Impaired pain sensation ORPHA:2047
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis, Short stature OMIM:617270
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Dementia OMIM:603218
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Decreased body weight, Inability to walk, Poor eye co... OMIM:617695
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Short stature, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obesity OMIM:614947
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia OMIM:619150
Rett Syndrome
Short stature, Gait apraxia, Cachexia, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, ... OMIM:312750
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety OMIM:619191
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Joubert Syndrome 20
Self-mutilation, Retinopathy, Abnormal retinal morphology, Renal cyst, Aggressive behavior OMIM:614970
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Generalized hirsutism, Short stature, Ataxia ORPHA:1933
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia ORPHA:101005
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Cachexia, Gait disturbance, Choreoathetosis, Spasticity, Dystonia, Failure... ORPHA:702
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Poor eye contact, Hand apraxia, Pill-rolling tremor, Stere... ORPHA:3095
Isaacs Syndrome
Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Degeneration... OMIM:604320
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... ORPHA:93101
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, A... OMIM:607225
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... OMIM:215470
Smith-Magenis syndrome
Motor stereotypy, Short stature DECIPHER:8
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Short stature, Hypertonia ORPHA:1389
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Poor eye contact, Short stature, Seve... ORPHA:561854
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Retinal dystrophy, ... OMIM:266900
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Short stature, Cachexia, Chorea, Athetosis, Dystonia ORPHA:52503
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... ORPHA:453521
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, Abnormal nonverbal communicative behavior, Lack of peer relationships OMIM:300495
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Frontal upsweep of hair, Tremor, Spasticity OMIM:300983
Martsolf Syndrome 2
Decreased body weight, Short stature, Spastic diplegia, Cataract, Developmental cataract OMIM:619420
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Retinal dystrophy, Coloboma OMIM:614465
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor OMIM:618951
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Poor eye contact OMIM:613886
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... OMIM:619468
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Growth d... OMIM:619738
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Short stature, Intention tremor, Tip-toe gait, Babinsk... ORPHA:397946
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Thick eyebrow, Limb ataxia, Dysmetria, Intention tremor, Tr... OMIM:616127
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Babinski sign, Degeneration of the lateral corticospinal tract... ORPHA:444099
Spastic Paraplegia 46, Autosomal Recessive
Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb dysmetria, Ank... OMIM:614409
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor OMIM:613724
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... OMIM:261640
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Leukopenia, Tetraparesis, Optic atrophy, Macrocytic anemia, Choreoathetosis,... ORPHA:27
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic paraparesis, Proximal muscle weaknes... ORPHA:101077
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Babinski sign, Spastic paraplegia, Frequent falls, Difficulty wa... OMIM:609195
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Dystonia OMIM:617836
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity OMIM:613402
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intent... ORPHA:284289
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Short stature, Babinski sign, Spastic dysarthria, Difficulty walking, Progressi... ORPHA:280763
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Short stature, Babinski sign, Spastic paraplegia, Tremor, Gait disturbanc... OMIM:616586
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Retinal Venous Beading
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Retinal infarction, Abnormal distribu... OMIM:180080
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spastic Paraplegia 5A, Autosomal Recessive
Upper limb spasticity, Impaired vibration sensation in the lower limbs, Babinski sign, Limb dysme... OMIM:270800
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity OMIM:616494
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Tetraparesis, Spastic paraplegia, Abnormal upper motor neuron morphology... OMIM:263570
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Hirsutism, Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Short stature, Poor coordination, Intrauteri... OMIM:309548
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Ataxia, Spasticity OMIM:300067
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... OMIM:300894
Renpenning Syndrome
Abnormal hairshaft morphology, Severe short stature, Alopecia, Thin eyebrow, Cachexia, Iris colob... ORPHA:3242
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,... OMIM:614831
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tongue fasciculations, Gait disturbance, Tremor, Impaired distal vibration sen... ORPHA:276435
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Flexion contracture, Ankle clonus, Knee cl... OMIM:275900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spas... OMIM:221770
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Growth delay, Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Pseudopapilledema, Tetraparesis, Paralysis ORPHA:140989
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Short stature, Intention tremor, Abnormal pyramidal sign, Microcornea, Long ey... ORPHA:48431
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Short stature, Intrauterine grow... ORPHA:100973
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Cataract, Ataxia, Short Stature, And Mental Retardation
Ataxia, Short stature, Posterior subcapsular cataract, Postural tremor OMIM:300619
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi... ORPHA:2260
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Adrenoleukodystrophy
Paraparesis, Limb ataxia, Truncal ataxia, Lower limb muscle weakness, Neurodegeneration, Spastic ... OMIM:300100
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
4H Leukodystrophy
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Tremor, Cataract, Progressive gait ataxia, ... ORPHA:289494
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cdkl5-Deficiency Disorder
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Synophrys, G... ORPHA:505652
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Cataract, Spasticity OMIM:614307
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delayed social development,... ORPHA:208513
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Renal Coloboma Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Optic disc coloboma, Renal dysplasia, Optic nerve... ORPHA:1475
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Hypopigmentation of hair, Rigidity, Tremor, Spasticity, Premature graying of ... ORPHA:33445
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Inability to walk, Stereotypical hand wringing, Chorea OMIM:618760
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Favorable response of weakness to acetylcholine esterase inhibitors, Fatigab... ORPHA:353327
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Intrauterine growth retardation, Spastic tetraplegia OMIM:615282
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Poliomyelitis
Paraparesis, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Hyperkinetic mov... ORPHA:2912
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Opt... ORPHA:254343
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Leg muscle stiffness, Progressive spastic paraparesis, Para... ORPHA:43
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Microcornea, Progressive spasticity, Cataract, Growth delay ORPHA:2528
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Spasticity, Intrauterine growth retardation, Failure to ... OMIM:616801
Developmental And Epileptic Encephalopathy 35
Limb tremor, Intrauterine growth retardation, Cataract OMIM:616647
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Spinal muscular atrophy, type I, with congenital bone fractures
Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration of anterior horn cells... OMIM:271225
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum ORPHA:85179
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormality of the spinal cord, Spinal arteriovenous malformation ORPHA:53721
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Limb myoclonus, Lower limb muscle weakness, Frequent falls, Tremor, Abnorm... ORPHA:2590
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Rigidity, Neurodegeneration, Distal amyotrophy, Spastic tetrap... OMIM:615643
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Short stature, Gait disturbance, Cataract, Lower limb spasticity OMIM:617404
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Intention tremor, Babinski sign, Distal sensory impairme... OMIM:612674
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Abnormal anterior horn... OMIM:611890
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
19Q13.11 Microdeletion Syndrome
Failure to thrive, Sparse hair, Supernumerary nipple, Cachexia, Sparse or absent eyelashes, Micro... ORPHA:217346
Rare Non-Syndromic Intellectual Disability
Hypoplastic hippocampus, Emotional lability ORPHA:101685
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Babinski sign, Abnormal pyramid... ORPHA:320391
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Spastic paraparesis, Dysmetria, Cataract, Spasticity OMIM:614877
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Gait ataxia, Small for gestational age OMIM:609425
Arnold-Chiari Malformation Type Ii
Paraparesis, Myelomeningocele, Ataxia, Opisthotonus, Hand muscle atrophy, Paraplegia, Spasticity,... ORPHA:1136
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis OMIM:611087
Cronkhite-Canada Syndrome
Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Cachexia, Dystrop... ORPHA:2930
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, U... OMIM:616795
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Intrauterine growth retardation, Dystonia OMIM:617557
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Mcdonough Syndrome
Cachexia, Synophrys, Short stature ORPHA:2471
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Orthostatic hypotension... ORPHA:2822
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Depression, Anxiety, Memory impairment, Abnormal hippocampus morphology ORPHA:163921
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... OMIM:263200
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Huntington Disease
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... ORPHA:399
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... ORPHA:101
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Gliosis, Neuronal loss in central nervous system, Myoclonus, Astrocytosis, Pa... OMIM:203700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Nephropathy, Hematuria, Retinal hemorrhage, Renal cyst, Renal insufficiency, Retinal arteriolar t... OMIM:611773
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Mental deterioration, Deficit in phonologic short-term memory, Apathy ORPHA:240112