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Gene: Mapt MGI:97180

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fluid intake Mapttm1b(EUCOMM)Hmgu HOM   Early adult 4.45×10-05
abnormal retina blood vessel morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
abnormal retina vasculature morphology Mapttm1b(EUCOMM)Hmgu HOM Early adult 8.42×10-14
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
polycystic kidney Mapttm1b(EUCOMM)Hmgu HOM Early adult 0.00
persistence of hyaloid vascular system Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.45×10-10
decreased grip strength Mapttm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Semantic Dementia
Dementia ORPHA:100069
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... ORPHA:100070
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Upper motor neuron... ORPHA:275864
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Falls, Parkinsonism, Deficit in grammar, Clumsiness, Limb apraxia, Speech articulation difficulti... ORPHA:240112
Supranuclear Palsy, Progressive, 1
Retrocollis, Granulovacuolar degeneration, Parkinsonism, Rigidity, Eyelid apraxia, Neuronal loss ... OMIM:601104
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic ... ORPHA:240094
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Depression, Anxiety, Mental deterioration, Memory impairment ORPHA:240085
Pick Disease Of Brain
Frontotemporal dementia, Diminished motivation, Emotional blunting, Apathy, Inappropriate laughte... OMIM:172700
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Blepharospasm, Abnormal pyramidal sign, Falls, Akinesia, Parkinsonism, Ga... ORPHA:240071
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, Bradykinesia OMIM:168600

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
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation 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
Cognitive impairment, Dementia OMIM:618564
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... OMIM:105550
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Low... OMIM:614373
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Spasticity, Ankle clonus, Lower limb muscle weakn... OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amy... OMIM:612577
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Hippocampal atrophy, Tetraparesis, Skeletal muscle atrophy, Amyotrophic lateral scler... OMIM:617892
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of anterior horn cells, Proxima... OMIM:253400
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Short stature, Distal sensory impairment, Developmental cataract OMIM:212710
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc... OMIM:608030
Neuronopathy, Distal Hereditary Motor, Type Viib
Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness... OMIM:607641
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Generalized amyotrophy, Parkinsonism, Apraxia, Abnormality ... ORPHA:275872
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Skeletal muscle atroph... OMIM:253550
Amyotrophic Lateral Sclerosis 1
Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Skeletal muscle atrophy,... OMIM:105400
Nephronophthisis 14
Nephronophthisis, Retinal degeneration, Polycystic kidney dysplasia OMIM:614844
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuron morphology, Amyot... OMIM:602099
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... ORPHA:280397
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... ORPHA:65684
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Basal ganglia gliosis, Lower limb muscle weakness, Optic atrophy, Rigidi... ORPHA:225154
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Decreased body weight, Spastic gait, Short stature, Delayed speech and language development, Deve... OMIM:618284
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Skel... ORPHA:247604
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Spastic dysarthria, Babinski sign, Spastic tetraparesis, Abnormal upper motor neuro... OMIM:611637
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Babinski sign, Abnormal lower motor neuron morphology, Pallo... OMIM:602433
Dysequilibrium Syndrome
Short stature, Cerebral palsy, Gait disturbance, Ataxia, Cataract ORPHA:1766
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyot... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyot... OMIM:616437
Spastic Paraparesis-Deafness Syndrome
Short stature, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Spastic paraparesis, Impaired pa... ORPHA:2815
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign OMIM:612069
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hand tremor, Gliosis, Tetraplegia, Proximal amyotrophy, Axon... OMIM:604484
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:618093
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia, Spastic gait OMIM:617133
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spastic Paraparesis And Deafness
Spastic paraparesis, Cataract, Tremor, Short stature OMIM:312910
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment OMIM:617018
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Hypertonia, Distal amyotrophy, Spasticity, Spastic diplegia, Spastic tetraparesis,... OMIM:205100
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Spasticity, Motor neuron atrophy, Fatigable weakness of res... ORPHA:803
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Semantic Dementia
Dementia ORPHA:100069
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Bardet-Biedl Syndrome 10
Renal cyst, Retinal dystrophy, Rod-cone dystrophy, Renal insufficiency OMIM:615987
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Spinal muscular atrophy, Degeneration of anterior horn cells... OMIM:159950
Senior-Loken Syndrome 4
Rod-cone dystrophy, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia OMIM:606996
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Impaired proprioception, Dysmetria... ORPHA:101108
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Ataxia, Cataract, Tremor, Growth delay OMIM:278780
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Cognitive impairment, Renal dysplasia, Stage 5 chronic kidney disease, Retina... OMIM:615993
Autosomal Recessive Spastic Paraplegia Type 43
Knee flexion contracture, Poor fine motor coordination, Spasticity, Spastic gait, Babinski sign, ... ORPHA:320370
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Spasticity of facial muscles, Spastic gait, Appendicular spasticity, S... OMIM:606353
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Frontotemporal cerebral atrophy, Parkinsonism, Diffuse cerebral atrophy, Ab... ORPHA:412066
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Amyotrophic Lateral Sclerosis 8
Abnormal pyramidal sign, Postural tremor, Neuronal loss in central nervous system, Skeletal muscl... OMIM:608627
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Basal ganglia gliosis, Spinal muscular atrophy, Fasciculations, Degene... OMIM:607596
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Delayed speech and language development, Torticollis, Ataxia, Tremor, Hyperkinetic moveme... OMIM:618425
Chorea, Benign Hereditary
Chorea, Dementia, Anxiety OMIM:118700
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor ORPHA:217012
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Achilles tendon contract... OMIM:302800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Global brain atrophy, Chorea, Abnormal pyramidal sign, Progressive cerebellar ataxia... ORPHA:282166
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, U... OMIM:302802
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Degeneration of anteri... OMIM:301830
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Short stature, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Machado-Joseph Disease Type 3
Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Degeneration of anterior horn ... ORPHA:276244
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Dementia, Anxiety ORPHA:494541
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Resting tremor, Apraxia... OMIM:615157
Huntington Disease-Like 2
Chorea, Inertia, Weight loss, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irrita... OMIM:606438
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Short stature, Progressive gait ataxia, Clumsiness, Delayed speech and language devel... ORPHA:284332
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking ORPHA:423296
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor, Premature graying of hair OMIM:190200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... ORPHA:95434
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Huntington Disease-Like 2
Chorea, Weight loss, Parkinsonism, Gait disturbance, Involuntary movements, Dystonia ORPHA:98934
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Impaired social interactions, Torticollis, Myoclonus, Kinetic tremor, Involuntar... OMIM:611092
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Brain atrop... ORPHA:52430
Idiopathic Camptocormia
Myelitis, Fatty replacement of skeletal muscle, Parkinsonism, Proximal spinal muscular atrophy, S... ORPHA:1320
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Short stature, Delayed speech and language development, To... OMIM:617284
Neurodegeneration With Brain Iron Accumulation 8
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady ... OMIM:617917
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Spasticity, Large for gestational age, Bruxism ORPHA:356996
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Rigidity, Myoclonus, Babinski sign, Neuronal loss in central nervous s... OMIM:600795
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn... ORPHA:1145
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Cognitive impairment, Cone/cone-rod dystrophy, Stage 5 chronic kidney disease... OMIM:615994
Meckel Syndrome 13
Polycystic kidney dysplasia, Retinopathy OMIM:617562
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Dysdiadochokinesis, Short statur... OMIM:224050
Moynahan Syndrome
Alopecia, Cachexia, Sparse hair, Short stature ORPHA:2574
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Short stature, Clumsiness, Delayed speech and language development, Atax... OMIM:608029
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Tremor, Skeletal muscle h... ORPHA:99014
Primary Lateral Sclerosis
Progressive spastic paraparesis, Spasticity, Spastic gait, Spastic dysarthria, Cervical spinal co... ORPHA:35689
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Urocanase Deficiency
Gait ataxia, Short stature, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... ORPHA:363710
Developmental And Epileptic Encephalopathy 97
Delayed speech and language development, Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Christianson Syndrome
Gait ataxia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Absent speech, Thick eyebr... ORPHA:85278
Alexander Disease Type I
Spasticity, Abnormal pyramidal sign, Palatal tremor, Cachexia, Ataxia, Failure to thrive ORPHA:363717
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Neurogenic bladder, Parkinsonism, Ataxia, Babinski sign, Amyotrophic l... OMIM:615911
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Chorea, Muscle fiber atrophy, Spastic diplegia, Opisth... ORPHA:300605
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Retinal degeneration, Renal corticomedulla... OMIM:613550
Chorea, Benign Familial
Chorea OMIM:215450
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... OMIM:128230
Cataract-Ataxia-Deafness Syndrome
Short stature, Ataxia, Developmental cataract, Tremor, Hypertonia ORPHA:1368
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal ... ORPHA:600
Pontocerebellar Hypoplasia Type 1
Spasticity, Cerebral cortical atrophy, Optic atrophy, Degeneration of anterior horn cells, Ataxia... ORPHA:2254
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Cataract, Tremor OMIM:165300
Cataract 11, Multiple Types
Chorea, Cataract, Developmental cataract, Hypertonia OMIM:610623
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Choreoathetosis, Myoclonus, Ataxia, Spastic para... ORPHA:726
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Rett Syndrome
Gait ataxia, Spasticity, Gait apraxia, Short stature, Stereotypical hand wringing, Truncal ataxia... OMIM:312750
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Short stature, Recurrent hand flapping, Hand tremor, Absent speech, Broad-based gait OMIM:617862
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Small for gestational age, Delayed speech and language development, Absent speech,... ORPHA:85288
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... ORPHA:216873
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, Poor coordination, Delayed speech and language development, Ataxia, Paroxysmal dys... OMIM:619150
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Short stature, Delayed speech and language development, Limb ataxia, Inc... OMIM:213200
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign, Myelopathy OMIM:159580
Foxg1 Syndrome
Spasticity, Decreased body weight, Inability to walk, Stereotypical hand wringing, Short stature,... ORPHA:561854
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Retinal degeneration, Rod-cone dystrophy, Renal cyst OMIM:615982
Spinocerebellar Ataxia 23
Gait ataxia, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Dysmetr... OMIM:610245
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Polyendocrine-Polyneuropathy Syndrome
Short stature, Dystonia, Ataxia, Postnatal growth retardation OMIM:616113
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Truncal ataxia, Synophrys, Oculomotor apraxia, Clumsiness, Delayed speech and langua... ORPHA:453521
Mast Syndrome
Lower limb muscle weakness, Dysdiadochokinesis, Apraxia, Incoordination, Babinski sign, Spastic p... OMIM:248900
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Riboflavin Transporter Deficiency
Iris hypopigmentation, Myoclonus, Cachexia, Ataxia, Tremor ORPHA:97229
Flynn-Aird Syndrome
Alopecia, Cachexia, Ataxia, Impaired pain sensation, Cataract ORPHA:2047
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Delayed speech and language development, Myoclonus, Tremor, Frequent falls, Dystonia OMIM:619647
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety OMIM:603218
X-Linked Creatine Transporter Deficiency
Chorea, Short stature, Delayed speech and language development, Cachexia, Ataxia, Hypertonia, Ath... ORPHA:52503
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Delayed speech and language development, Myoclonus, Ataxia, ... OMIM:615924
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Delayed speech and language development, Gait disturban... OMIM:618090
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S... OMIM:611067
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Delayed speech and language development, Myoclonus, Failure to thrive, Tremor, Dystonia OMIM:619651
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Spastic dysarthria, Hand tremor, Cataract, Lower limb spasticity ORPHA:401830
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Retinal dystrophy, Thickeni... OMIM:266900
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia, Absent speech OMIM:618951
Boucher-Neuhauser Syndrome
Gait ataxia, Spasticity, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper moto... OMIM:215470
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... ORPHA:100070
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Axonal degeneration, Spinal muscular atrop... OMIM:604320
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia OMIM:233100
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Truncal ataxia, Synophrys, Oculomotor apraxia, Clumsiness, Limb ataxia, Delayed spee... OMIM:616127
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Juvenile Huntington Disease
Gait ataxia, Chorea, Weight loss, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Dys... ORPHA:248111
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Delayed speech and language development, Tremor, Ataxia OMIM:619099
Spastic Paralysis, Infantile-Onset Ascending
Spastic tetraplegia, Achilles tendon contracture, Babinski sign, Spastic paraplegia, Abnormal low... OMIM:607225
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Language impairment ORPHA:101075
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Renal insufficiency, Perigl... OMIM:619468
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Rigidity, Delayed speech and language development, Ataxia, Tremor, Dystonia, Brady... OMIM:617836
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Upper motor neuron... ORPHA:275864
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... OMIM:614409
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Spasticity, Short stature, Cachexia, Choreoathetosis, Gait disturba... ORPHA:702
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... ORPHA:98763
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia, Generalized hirsutism, Ataxia ORPHA:1933
Joubert Syndrome 16
Renal cyst, Retinal dystrophy, Coloboma, Nephronophthisis OMIM:614465
Fraxe Intellectual Disability
Short stature, Clumsiness, Recurrent hand flapping, Delayed speech and language development, Comp... ORPHA:100973
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Tremor, Hemiplegia OMIM:141500
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Hsd10 Disease
Rigidity, Delayed speech and language development, Myoclonus, Choreoathetosis, Gait disturbance, ... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Short stature, Delay... OMIM:614831
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Stereotypical hand wringing, Apraxia,... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Clumsiness, Paraparesis, Myoclonus, Hypomimic face, Ataxia, Pontocerebellar atrophy, ... OMIM:617854
Peroxisome Biogenesis Disorder 8B
Gait ataxia, Spasticity, Ankle clonus, Tip-toe gait, Limb tremor, Rigidity, Ataxia, Babinski sign... OMIM:614877
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Head tremor, Torticollis, Intention tremor OMIM:613724
Joubert Syndrome 20
Renal cyst, Aggressive behavior, Retinopathy, Self-mutilation OMIM:614970
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Hypertonia ORPHA:1389
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal upper limb amyotr... ORPHA:101077
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Short stature, Truncal ataxia, Delayed speech and language development, Dysme... OMIM:610185
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Impaired distal vibration sensation, Short stature, Pseudobulbar paralysis, Gait dist... OMIM:616586
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Macrocytic... ORPHA:27
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Short stature, Shyness, Spastic dysarthria, Abnormal ... ORPHA:280763
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity OMIM:613402
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Spastic ataxia, Optic atrophy, Limb ataxia, Babinski sign, Spastic paraparesis, Uppe... OMIM:613672
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Spasticity, Childhood-onset truncal obesity, Delayed speech and language development, Cataract, T... OMIM:610156
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... OMIM:607483
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... OMIM:213600
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... ORPHA:397946
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Frontal upsweep of hair, Delayed speech and language development, Ataxia, Absent spee... OMIM:300983
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Impaired social interactions, Ataxia, Tremor, Action tremor, Hypertonia, Gr... OMIM:619738
Isaacs Syndrome
Distal sensory impairment, Weight loss, Fasciculations ORPHA:84142
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bradykinesia, Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Ap... OMIM:300055
Neurodegeneration With Brain Iron Accumulation 7
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... OMIM:617916
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Primary Angiitis Of The Central Nervous System
Pseudopapilledema, Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis ORPHA:140989
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Renpenning Syndrome
Alopecia, Thin eyebrow, Cachexia, Severe short stature, Iris coloboma, Cataract, Growth delay, Ab... ORPHA:3242
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb... ORPHA:254343
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Abnormal pyramidal sign, Optic atrophy, Distal lower limb amyotrophy, Spastic gait, S... OMIM:616680
Type 1 Diabetes Mellitus
Polyuria, Polyphagia, Polydipsia OMIM:222100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Inability to walk, Cachexia, Absent speech, Hypertonia, Failure to thrive in infancy,... OMIM:616801
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, ... ORPHA:231736
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Distal lower limb amyotrophy, Sp... ORPHA:444099
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ankle clonus, Tortuosity of conjunctival vessels, Truncal ataxia, Progressive gait ataxia, Limb a... ORPHA:284289
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Delayed speech and language development, Cachexia, Supernumerary nipple, ... ORPHA:217346
Adrenoleukodystrophy
Lower limb muscle weakness, Truncal ataxia, Paraparesis, Limb ataxia, Incoordination, Spastic par... OMIM:300100
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Delayed speech and language development, Gait... OMIM:300423
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I... OMIM:617225
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... OMIM:600363
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, Babinski s... ORPHA:284324
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia ORPHA:30925
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Spastic Paraplegia 5A, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Spastic gait, Postural tremor, Upper limb spasti... OMIM:270800
Huntington Disease
Poor fine motor coordination, Chorea, Gait imbalance, Weight loss, Involuntary movements, Rigidit... ORPHA:399
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... ORPHA:276435
Renal Coloboma Syndrome
Optic nerve dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Rena... ORPHA:1475
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Apraxia, Myoclonus, Babinski sign, Gliosis, Cerebral atrophy, Caudate atrophy, Abnorm... OMIM:221770
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Delayed speech and language development, Tremor, Ataxia OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Flexion contracture, Lower limb muscle weakness, Eyelid myoclonus, Clumsiness, My... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment OMIM:618387
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia, Absent speech OMIM:616366
X-Linked Intellectual Disability, Hedera Type
Echolalia, Inability to walk, Apraxia, Delayed speech and language development, Gait disturbance,... ORPHA:93952
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Neurogenic bladder, Hemiparesis, Clumsiness, Paraparesis, Paraly... ORPHA:43
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Abnormal peripheral n... ORPHA:353327
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Poliomyelitis
Myelitis, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Fatigable weakness of ... ORPHA:2912
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Paresthesia, Short stature, Long eyelashes, Ataxia, Microcornea, Dysmetr... ORPHA:48431
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Spastic paraplegia, Tetraparesis, Orthostatic hypotension, Abnormal upper mot... OMIM:263570
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn... OMIM:271225
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Short stature, Small for gestational age, Cataract, Waddling gait OMIM:618392
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Progressive spasti... ORPHA:506353
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor OMIM:616494
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Weight loss, Clumsiness, Delayed speech and la... ORPHA:157941
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Growth delay, Dystonia OMIM:612716
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Short stature, Oculomotor apraxia, Delayed speech and language developme... ORPHA:1170
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
4H Leukodystrophy
Dysdiadochokinesis, Short stature, Progressive gait ataxia, Abnormality of extrapyramidal motor f... ORPHA:289494
Spastic Paraplegia 48, Autosomal Recessive
Spastic gait, Lower limb muscle weakness, Parkinsonism, Ataxia, Spastic paraplegia, Spastic parap... OMIM:613647
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Skeletal muscle atrophy, Cerebral atroph... OMIM:611890
Baralle-Macken Syndrome
Spasticity, Inability to walk, Delayed speech and language development, Absent speech, Cataract, ... OMIM:619255
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Delaye... ORPHA:79263
Leukodystrophy, Hypomyelinating, 6
Spasticity, Short stature, Rigidity, Oculomotor apraxia, Delayed speech and language development,... OMIM:612438
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Cachexia, Cata... ORPHA:2930
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Rigidity, Small for gestational age, Oculogyric crisis, Delayed ... ORPHA:70594
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi... OMIM:606995
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Poor coordination, Recurrent hand flapping, Delayed speech and lang... ORPHA:544254
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum ORPHA:85179
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Facial hypotonia OMIM:611087
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract, Ataxia, Short stature, Postural tremor OMIM:300619
Arima Syndrome
Renal tubular atrophy, Optic atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Retin... OMIM:243910
Mcdonough Syndrome
Synophrys, Cachexia, Short stature ORPHA:2471
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Motor deteriora... ORPHA:168782
Neuroectodermal Melanolysosomal Disease
Spasticity, Premature graying of hair, Rigidity, Ataxia, Hypopigmentation of hair, Tremor, Hypert... ORPHA:33445
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Rigidity, Spastic paraparesis, Distal amyotrophy, Neurodegeneration, Bradyki... OMIM:615643
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall... OMIM:616719
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Lower limb muscle weakness, Dysdiadochokinesis, Oculomotor apraxia, M... OMIM:614487
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Abnormal hippocampus morphology, Depression, Anxiety, Memory impairment ORPHA:163921
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Delayed speech and language development, Ataxia, Absent speech, Astigmatism, F... OMIM:619556
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Lower limb muscle weakness, Parkinsonism, Progressive spasticity, Abno... ORPHA:2822
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Spastic tetraplegia, Short stature, Delayed speech and language development, Cachexia, Absent spe... ORPHA:371364
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Progressive spasticity, Microcornea, Cataract, Growth delay ORPHA:2528
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Delayed speech and language development, Babinski sign, Spastic paraplegia, Failure to thrive, Tr... ORPHA:477673
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Pontocerebellar atrophy, Intenti... ORPHA:423275
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Delayed speech and language development, Myoclonus, Ataxia,... OMIM:619725
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Cataract, Tremor, Intention tremor OMIM:614307
Autosomal Recessive Spastic Paraplegia Type 46
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Truncal ataxia, Spastic dysarthr... ORPHA:320391
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Bruxism, Absent speech, Tremor, Hypertonia, Un... OMIM:617435
Central Diabetes Insipidus
Nocturia, Polydipsia, Anxiety ORPHA:178029
Spastic Paraplegia 9A, Autosomal Dominant
Gait ataxia, Hoffmann sign, Generalized amyotrophy, Spastic gait, Resting tremor, Babinski sign, ... OMIM:601162
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Alexander Disease Type Ii
Spasticity, Rigidity, Abnormal autonomic nervous system physiology, Palatal tremor, Cervical spin... ORPHA:363722
Galactose Epimerase Deficiency
Cataract, Growth delay, Weight loss ORPHA:79238
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Spasticity, Inability to walk, Apraxia, Delayed speech and language development, Dys... OMIM:617810
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Retinal arteriolar tortuosity, Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Apparent Mineralocorticoid Excess
Renal sodium wasting, Hypertensive retinopathy, Nephrocalcinosis, Renal insufficiency, Abnormal u... ORPHA:320
Cln5 Disease
Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Clumsiness, Ataxia, Poor gross... ORPHA:228360
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Spasticity, Ataxia, Babinski sign, Intention tremor, Cataract, Dysmetria, Distal sensory impairme... OMIM:612674
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Severe short stature ORPHA:2278
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,... ORPHA:99750
Spinocerebellar Ataxia, Autosomal Recessive 31
Delayed speech and language development, Choreoathetosis, Ataxia, Absent speech, Tremor, Growth d... OMIM:619422
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Impaired vibration sensation in the lower limbs, Spastic ataxia, Pr... ORPHA:137898
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Absent speech, Cataract, Growth delay, Dystonia OMIM:614932
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic para... ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Senior-Boichis Syndrome
Aggressive behavior, Suicidal ideation, Abnormal renal insterstitial morphology, Stage 5 chronic ... ORPHA:84081
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Absent speech, Inability to walk, Waddling gait OMIM:616269
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Delayed speech and language development, Cachexia, Ataxia ORPHA:42
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Delayed speec... OMIM:612067
Developmental And Epileptic Encephalopathy 60
Hippocampal malrotation OMIM:617929
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... ORPHA:98764
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Falls, Parkinsonism, Deficit in grammar, Clumsiness, Limb apraxia, Speech articulation difficulti... ORPHA:240112
Arnold-Chiari Malformation Type Ii
Spasticity, Neurogenic bladder, Hand muscle atrophy, Paraparesis, Syringomyelia, Ataxia, Parapleg... ORPHA:1136
Trisomy X
Multicystic kidney dysplasia, Cognitive impairment, Renal hypoplasia/aplasia, Attention deficit h... ORPHA:3375
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... OMIM:618877
Supranuclear Palsy, Progressive, 1
Retrocollis, Granulovacuolar degeneration, Parkinsonism, Rigidity, Eyelid apraxia, Neuronal loss ... OMIM:601104
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patte... OMIM:604317
Cerebrotendinous Xanthomatosis
Global brain atrophy, Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, Distal a... ORPHA:909
Cystinosis
Aminoaciduria, Retinopathy, Nephropathy, Polydipsia, Proteinuria, Renal insufficiency, Renal tubu... ORPHA:213
Band Heterotopia
Hypoplastic hippocampus, Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation OMIM:600348
Pulmonary Blastoma
Weight loss ORPHA:64741
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, At... OMIM:616795
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic ... ORPHA:240094
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Lower limb muscle weakness, Dysdiadochokinesis, Abnormal mitochondria in muscle tissu... ORPHA:313772
Oromandibular Dystonia
Blepharospasm, Lingual dystonia, Weight loss, Limb dystonia, Torticollis, Laryngeal dystonia, Hyp... ORPHA:93958
Papillorenal Syndrome
Vesicoureteral reflux, Morning glory anomaly, Multicystic kidney dysplasia, Stage 5 chronic kidne... OMIM:120330
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Cachexia, Dystonia, Babinski sign OMIM:618186
Martsolf Syndrome 2
Decreased body weight, Spastic diplegia, Short stature, Developmental cataract, Cataract OMIM:619420
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Absent speech, Tremor, Difficulty walking, Dystonia, Delaye... ORPHA:330050
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,... OMIM:137440
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Small for gestational age, Choreoathetosis, Ataxia, Trem... OMIM:261640
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Autosomal Recessive Spastic Paraplegia Type 26
Impaired vibration sensation at ankles, Pseudobulbar paralysis, Gait disturbance, Babinski sign, ... ORPHA:101006
Dopa-Responsive Dystonia
Inability to walk, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abnormality of e... ORPHA:255
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Clasp-knife sign, Decreased motor nerve conduction velocity, Hand t... ORPHA:101076
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Rhyns Syndrome
Nephronophthisis, Rod-cone dystrophy, Multicystic kidney dysplasia ORPHA:140976
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Cerebral palsy, Short stature, Small for gestational age, Delayed speech and language... ORPHA:352490
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Poor fine motor coordination, Dysdiadochokinesis, Truncal ataxia, Rigidity, Hypomimic face, Polyc... ORPHA:309854
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Paresthesia, Cachexia, Cataract, Nail dystrophy OMIM:175500
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Hypoplasia of the musculature, A... OMIM:253310
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing of gait, ... OMIM:619911
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377