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
persistence of hyaloid vascular system Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.22×10-10
decreased grip strength Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-05
polycystic kidney Mapttm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retina vasculature morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-14
abnormal retina blood vessel morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-14
decreased total retina thickness Mapttm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-07
decreased exploration in new environment Mapttm1b(EUCOMM)Hmgu HOM Early adult 3.68×10-10

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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
Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun... ORPHA:100070
Semantic Dementia
Dementia ORPHA:100069
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, As... ORPHA:275864
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Supranuclear Palsy, Progressive, 1
Bradykinesia, Cerebral atrophy, Senile plaques, Retrocollis, Neuronal loss in central nervous sys... OMIM:601104
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neu... ORPHA:240085
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Deficit in phonologic short-term memory, Mental deterioration ORPHA:240112
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia... ORPHA:240071
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Dysphagia, Short stepped ... OMIM:168600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha... ORPHA:240094

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Tetraparesis, Neuronal loss in central nervous system, Gliosis, Parapa... OMIM:105550
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Low... OMIM:614373
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Lower l... OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Tetrapar... OMIM:617892
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necros... OMIM:271150
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Uppe... OMIM:612577
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Tongue fasciculations, Distal amyotrophy, Spinal muscular atrop... OMIM:253400
Cataract-Ataxia-Deafness-Retardation Syndrome
Short stature, Distal sensory impairment, Developmental cataract, Ataxia OMIM:212710
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral... OMIM:608030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... OMIM:607641
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor... ORPHA:275872
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun... ORPHA:100070
Amyotrophic Lateral Sclerosis 1
Fasciculations, Spasticity, Skeletal muscle atrophy, Degeneration of anterior horn cells, Amyotro... OMIM:105400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Spinal muscular atrophy, Skeletal muscle atrophy, Degeneration of anterior... OMIM:253550
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Fasciculations, Distal amyotrophy, Spasticity, Abnormal pyramidal sign, Abnormal l... OMIM:602099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysphagia, ... OMIM:618093
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Tremor, Degeneration of anterior horn cells, Abnorm... ORPHA:65684
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Babinski sign, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Spa... ORPHA:225154
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Spastic gait, Babinski sign, Hypertonia, Decreased body weight, Cogwheel rigidity, Growth delay, ... OMIM:618284
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Retinal degeneration, Stage 5 ... OMIM:613824
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Abnormal upper motor neuron morphology, Spasticity, Spastic tet... ORPHA:247604
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ... OMIM:611637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... OMIM:616437
Dysequilibrium Syndrome
Cerebral palsy, Gait disturbance, Short stature, Ataxia, Cataract ORPHA:1766
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor ... OMIM:602433
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Gait disturbance, Short stature, Hemiplegia/hemiparesis, Ataxia, Catarac... ORPHA:2815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Fasciculations, Tetraplegia, Gliosis, Proximal amyotrophy, Degeneration of a... OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Spasticity, Reduced social reciprocity, Slurred speech, Aggressive behavior OMIM:618103
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxi... ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor, Short stature OMIM:312910
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Amyotrophic Lateral Sclerosis
Babinski sign, Fatigable weakness of respiratory muscles, Progressive spinal muscular atrophy, Fa... ORPHA:803
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Decreased body weight, Short stature, Unsteady gait, Motor ster... OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Excessive shyness, Aggressive behavior, Gait ataxia OMIM:618221
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Dystonia, Ataxia, Inappropriate laughter, Motor stereotypy,... OMIM:619150
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Short stature, Ataxia, Dysmetria, A... OMIM:276880
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency, Renal cyst OMIM:615987
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:606996
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Tremor, Facial palsy, Spinal muscular... OMIM:159950
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Reduced social reciprocity, Myoclonus, Postural tremor, Kinet... OMIM:611092
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Spinocerebellar Ataxia Type 23
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Impaired distal vibration se... ORPHA:101108
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Distal amyotrophy, Spinal muscular atrophy, C... OMIM:607596
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Babinski sign, Ankle flexion contracture, Distal amyotrophy, Spasticity, Poor fine ... ORPHA:320370
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Growth delay, Ataxia, Cataract, Small for gestational age OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Short stature, Motor stereotypy, Self-injurious behavior, Choreoathetosis, S... OMIM:617270
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... OMIM:606353
Bardet-Biedl Syndrome 16
Renal cyst, Cognitive impairment, Renal agenesis, Retinal degeneration, Renal dysplasia, Rod-cone... OMIM:615993
Amyotrophic Lateral Sclerosis 8
Fasciculations, Neuronal loss in central nervous system, Distal amyotrophy, Proximal amyotrophy, ... OMIM:608627
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Axonal degenerati... OMIM:302800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,... ORPHA:282166
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Aids Wasting Syndrome
Anorexia, Cachexia, Weight loss ORPHA:90081
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Inability to walk, Motor stereotypy OMIM:606053
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Tongue fasciculations, Facial palsy, Spinal... OMIM:301830
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Paraparesis, ... OMIM:302802
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Alexander Disease Type I
Cachexia, Spasticity, Failure to thrive, Ataxia, Dysphagia, Abnormal pyramidal sign, Palatal tremor ORPHA:363717
Semantic Dementia
Dementia ORPHA:100069
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Cerebral atrophy, Apraxia, Resting... OMIM:615157
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Hanac Syndrome
Hematuria, Multiple renal cysts, Retinal vascular tortuosity, Renal insufficiency ORPHA:73229
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Huntington Disease-Like 2
Chorea, Gait disturbance, Involuntary movements, Dystonia, Parkinsonism, Weight loss ORPHA:98934
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Fasciculations, Brain atrophy, Rimmed vacuoles, Upper motor neu... ORPHA:52430
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia, Dystonia, Inappropriate laughter, Dysphagia, Motor stereot... ORPHA:85278
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Obesity, Ataxia, Intrauterine growth retardation, Aggressiv... OMIM:620270
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Myositis, Abnorm... ORPHA:1320
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes... ORPHA:1145
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Tremor, Parapares... ORPHA:99014
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Spastic tetraparesis, Spinal muscular atrophy, Cerebellar atrop... ORPHA:496756
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Short stature, Dysphagia, Motor stereotyp... OMIM:617862
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Dystonia, Reduced social reciprocity, Motor... OMIM:617820
Moynahan Syndrome
Short stature, Cachexia, Sparse hair, Alopecia ORPHA:2574
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cognitive impairment, ... OMIM:615994
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, ... OMIM:600795
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Difficulty walking, Oromandibular dystonia, Inability to walk, Lower li... ORPHA:300605
Migraine, Familial Hemiplegic, 1
Agitation, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Riboflavin Transporter Deficiency
Cachexia, Tremor, Iris hypopigmentation, Ataxia, Dysphagia, Myoclonus, Aggressive behavior ORPHA:97229
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Mulibrey Nanism
Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Neurogenic bladder, Cerebral cortical atrophy, Ataxia, Parkinsonism, Amyotrophic l... OMIM:615911
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Growth delay, Dystonia, Ataxia... OMIM:619738
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Retinal degener... OMIM:613550
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Primary Lateral Sclerosis
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici... ORPHA:35689
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Chorea, Benign Familial
Chorea OMIM:215450
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Short stature, Developmental cataract, Ataxia ORPHA:1368
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Bardet-Biedl Syndrome 9
Polydipsia, Bone spicule pigmentation of the retina, Renal insufficiency, Polyphagia, Attenuation... OMIM:615986
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Ataxia, Skeletal mus... ORPHA:2254
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Cachexia, Chorea, Athetosis, Short stature, Dystonia, Ataxia, Self-mut... ORPHA:52503
Dystonia 28, Childhood-Onset
Tip-toe gait, Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, ... OMIM:617284
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord pa... ORPHA:600
Atypical Rett Syndrome
Gait ataxia, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Tremor, Dystonia, Inappro... ORPHA:3095
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Cataract 11, Multiple Types
Cataract, Chorea, Hypertonia, Developmental cataract OMIM:610623
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Delayed early-childhood social milestone development, Tremor, G... OMIM:618090
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Gait ataxia... ORPHA:248111
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Aggressive behavior, Lower limb spasticity, Chorea, Torsion dystonia, Invo... ORPHA:98811
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... ORPHA:726
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... OMIM:309548
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... ORPHA:100973
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadocho... OMIM:224050
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Inappropriate laughter, Self-mutilation, Aggressive beh... OMIM:616269
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Bruxism, Severe postnatal growth r... ORPHA:561854
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Abnormal lower motor neur... OMIM:611067
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Short stature, Ataxia, Dysmetria OMIM:616291
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Gait ataxia OMIM:612075
Rett Syndrome
Truncal ataxia, Cachexia, Spasticity, Gait apraxia, Gait ataxia, Stereotypical hand wringing, Sho... OMIM:312750
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Tremor, Gait disturbance, Rigidity, Ataxi... ORPHA:391417
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady g... OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis, Myelopathy OMIM:159580
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Retinal degeneration, Rod-cone dystrophy, Renal cyst OMIM:615982
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Aggressive behavior, Motor stereotypy, Involuntary movements OMIM:617171
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapar... OMIM:615924
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Mast Syndrome
Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos... OMIM:248900
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Huntington Disease
Decreased body mass index, Chorea, Choking episodes, Rigidity, Myoclonus, Clumsiness, Aggressive ... ORPHA:399
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Short stature, Cataract, Small for gestational age ORPHA:85288
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Flynn-Aird Syndrome
Impaired pain sensation, Cachexia, Ataxia, Cataract, Alopecia ORPHA:2047
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Diaphragmatic paraly... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cataract, Hand tremor, Progressive spastic paraplegia ORPHA:401830
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, C... OMIM:215470
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Retinal dystrophy, Tubulointerstitial fibrosis, Impaired ... OMIM:266900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Renal Hypoplasia
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Dysesthesia, Frequent... OMIM:614877
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney... OMIM:619468
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Tetraplegia, Spastic paraplegia, Achilles tendon contracture, Spastic tetraplegia,... OMIM:607225
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Distal amyotrophy, Tremor, Hand muscl... ORPHA:101077
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, As... ORPHA:275864
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Imp... OMIM:619028
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia, Generalized hirsutism, Ataxia ORPHA:1933
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Joubert Syndrome 20
Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Joubert Syndrome 16
Retinal dystrophy, Coloboma, Nephronophthisis, Renal cyst OMIM:614465
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... OMIM:614409
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Pelizaeus-Merzbacher Disease
Cachexia, Spasticity, Gait disturbance, Short stature, Dystonia, Ataxia, Failure to thrive in inf... ORPHA:702
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Hirsutism, Gait ataxia, Intention t... OMIM:610185
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Babinski sign, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Sp... OMIM:613672
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Babinski sign, Distal lower limb muscle weakness, Lower limb spasticity, Progressiv... ORPHA:444099
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Short stature, Ataxia, Unsteady gai... OMIM:213200
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Tremor, Ataxia, Frontal upsweep of hair, Aggressive behavior OMIM:300983
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Anemia, Macrocytic anemia, Paraparesis, Ataxia, Leukopenia, Thrombocytopenia, Chor... ORPHA:27
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, D... ORPHA:210571
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Intellectual Developmental Disorder, Autosomal Dominant 56
Hypomimic face, Bradykinesia, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, S... OMIM:617854
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Hypertonia ORPHA:1389
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Involuntary movements, Dyston... OMIM:618218
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Hyperkinetic movements, Reduced social reciprocity, Stereotypical hand w... ORPHA:397933
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage... OMIM:606966
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Simplified gyral pattern OMIM:613402
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, ... OMIM:256100
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Chorea, Facial palsy, Frequent falls, Gait ataxia,... OMIM:607483
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni... ORPHA:254343
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre... OMIM:609425
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Acute infantile spinal muscular atrophy, Arachnodactyly, Generalized amyotrop... OMIM:271225
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Obesity, Motor stereotypy... OMIM:613670
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Excessive shyne... ORPHA:280763
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Gait disturbance, Stereotypical hand wringing, Short stature, Inap... OMIM:614104
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic gait, Spastic dysarthria, Spasticity, Cerebellar atrophy, C... OMIM:616680
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior OMIM:619470
Renpenning Syndrome
Cachexia, Alopecia, Growth delay, Severe short stature, Thin eyebrow, Cataract, Abnormal hairshaf... ORPHA:3242
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism, Dysphagia OMIM:128235
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Motor stereotypy, Spastic tetraplegia, Self-injurious behavior, Intrauterine growth r... OMIM:615282
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Short stature, Obesity, Reduced social reciprocity, Aggressive behavior ORPHA:329249
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Dysph... OMIM:607346
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysphagia, Dysmetria OMIM:617916
Adrenoleukodystrophy
Limb ataxia, Incoordination, Truncal ataxia, Paraparesis, Spastic paraplegia, Neurodegeneration, ... OMIM:300100
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Central Diabetes Insipidus
Depression, Polydipsia, Nocturia, Anorexia ORPHA:178029
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr... OMIM:604317
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ... OMIM:617695
4H Leukodystrophy
Delayed puberty, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper ... ORPHA:289494
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia OMIM:222100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Cerebral atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Ha... OMIM:611890
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... ORPHA:2260
Cronkhite-Canada Syndrome
Anorexia, Dystrophic fingernails, Cachexia, Dystrophic toenail, Patchy alopecia, Sparse body hair... ORPHA:2930
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Pro... ORPHA:284289
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Neurogenic bladder, Leg muscle stiffness, Paraparesis, Hemiparesis, Pr... ORPHA:43
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Dysphagia, Myoclonus, Choreoathetosis OMIM:261630
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tremor... ORPHA:3077
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Impaired vibr... OMIM:270800
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Gli... OMIM:221770
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Failure to thrive, Motor stereotypy, Cataract OMIM:617393
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Bruxism, T... OMIM:300055
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Tremor, Limb myoclonus, Frequent falls, Myoclonus, Clumsiness, Abnormal lower m... ORPHA:2590
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Short stature, Rigidity, Dystonia, Ataxia OMIM:617836
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Dystonia, Unsteady gait, Dysphagia, Moto... OMIM:617435
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Motor stereotypy, Self-injurious behavior, ... OMIM:618718
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Poliomyelitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Myelitis, Hypoplasia of the mu... ORPHA:2912
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder, Spastic para... OMIM:263570
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Babinski sign, Ankle clonus, Progressive spasticity, Upper motor neuron dysfunction, Progressive ... ORPHA:506353
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Scapular winging, Muscle fiber tubula... ORPHA:353327
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Short stature, Ataxia, Abnormal pyram... OMIM:614831
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Unsteady gai... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:157941
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Waddling gait, Short stature, Cataract, Small for gestational age OMIM:618392
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Ane Syndrome
Generalized amyotrophy, Ulnar deviation of the hand, Multiple joint contractures, Motor neuron at... ORPHA:157954
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Cachexia, Spasticity, Intrauterine growth retardation, Failure to ... OMIM:616801
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... ORPHA:99750
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Dysp... OMIM:261640
Spastic Paraplegia 48, Autosomal Recessive
Spastic gait, Lower limb spasticity, Spastic paraplegia, Ataxia, Parkinsonism, Spastic paraparesi... OMIM:613647
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Paraparesis ORPHA:53721
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
19Q13.11 Microdeletion Syndrome
Sparse or absent eyelashes, Cachexia, Microcornea, Growth delay, Failure to thrive, Sparse latera... ORPHA:217346
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Carpal bone hypoplasia, Babinski sign, Lower limb spasticity, Abnorm... OMIM:601162
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Facial hypotonia OMIM:611087
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Microcornea, Intention tremor, Short stature, Ataxia, Abnormal pyramidal sign, Cataract, ... ORPHA:48431
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Perry Syndrome
Bradykinesia, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disinhibition, Parkin... OMIM:168605
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Cerebellar atrophy, Ataxia, Palatal tremor... ORPHA:909
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Nail dystrophy, Cachexia, Alopecia, Cataract, Paresthesia OMIM:175500
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Arima Syndrome
Optic atrophy, Polyuria, Polydipsia, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointers... OMIM:243910
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Babinski sign, Hammertoe, Lower limb spasticity, Distal amyotrophy, Cerebellar atro... OMIM:275900
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Recurrent hand flapping, Gait ... ORPHA:544254
Mcdonough Syndrome
Short stature, Cachexia, Synophrys ORPHA:2471
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Distal amyotrophy, Spasticity, Myoclonus, Dysdiadochokinesis, Cerebellar atro... OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Posterior subcapsular cataract, Ataxia, Short stature OMIM:300619
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Distal amyotrophy, Rigidity, Spastic tetraplegia, Spastic paraparesis, Neurodegener... OMIM:615643
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Oromandibular Dystonia
Hyperkinetic movements, Torticollis, Bruxism, Lingual dystonia, Blepharospasm, Limb dystonia, Dys... ORPHA:93958
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Spasticity, Tremor, Rigidity, At... ORPHA:33445
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysdiadochokinesis, Intention tremor, Gait ataxia, Spastic paraparesis, ... ORPHA:423275
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
Morm Syndrome
Cataract, Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner... ORPHA:329284
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Progressive spasticity, Short stature, Growth delay, Cataract ORPHA:2528
Alexander Disease Type Ii
Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Limb muscle weakness, Ri... ORPHA:363722
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Retinal hemorrhage, Renal cyst, Retinal arteriolar tortuosity OMIM:611773
Hijazi-Reis Syndrome
Postnatal growth retardation, Astigmatism, Lower limb spasticity, Gait disturbance, Motor stereot... OMIM:301094
Galactose Epimerase Deficiency
Cataract, Weight loss, Growth delay ORPHA:79238
Autosomal Recessive Spastic Paraplegia Type 46
Babinski sign, Difficulty walking, Impaired vibration sensation at ankles, Spastic dysarthria, Lo... ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Orthostatic hypotension, Abnormality of extrapyramidal motor fun... ORPHA:2822
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum ORPHA:85179
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cystinosis
Polydipsia, Nephropathy, Retinopathy, Proteinuria, Motor stereotypy, Renal insufficiency, Aminoac... ORPHA:213
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Autosomal Recessive Spastic Paraplegia Type 26
Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity, Gait disturbance, D... ORPHA:101006
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Hyperesthesia, Short stature, Spastic tetraplegia, Self-injur... ORPHA:371364
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Distal sensory impairment, Spasticity, Subcapsular cataract, Intention tremor, Ata... OMIM:612674
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Cataract OMIM:614307
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
2Q23.1 Microdeletion Syndrome
Hyperactivity, Highly arched eyebrow, Polyphagia, Synophrys, Short stature, Growth delay, Ataxia,... ORPHA:228402
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive, Severe short stature ORPHA:2278
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Apparent Mineralocorticoid Excess
Polydipsia, Nephrocalcinosis, Abnormal urine sodium concentration, Hypertensive retinopathy, Rena... ORPHA:320
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed puberty, Babinski sign, Spasticity, Tremor, Short stature, Dystonia, Ataxia, Loss of ambu... OMIM:607694
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Astigmatism, Inability to walk, Tremor, Failure to thrive, Ataxia, Attention deficit ... OMIM:619556
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Compulsive behaviors, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Confusion, Cognitive impairment, Abnormal hippocampus morphology ORPHA:163921
Developmental And Epileptic Encephalopathy 60
Hippocampal malrotation OMIM:617929
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Lissencephaly, Hyperactivity, Pachygyria, Attention deficit ... OMIM:619827
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Upper motor neuron dysfunction... ORPHA:530983
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity, Spasticity OMIM:610156
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Pulmonary Blastoma
Weight loss ORPHA:64741
Band Heterotopia
Hydrocephalus, Hypoplastic hippocampus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Supranuclear Palsy, Progressive, 1
Bradykinesia, Cerebral atrophy, Senile plaques, Retrocollis, Neuronal loss in central nervous sys... OMIM:601104
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
X-Linked Charcot-Marie-Tooth Disease Type 2