Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphatidylinositol 4-kinase type 2 alpha
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pi4k2a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pi4k2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Spastic gait, Cerebellar atrophy, Urinary bladder sphincter dysfunction, Ankl... OMIM:607565
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Spastic tetraparesis, Astrocytosis, Cogwheel rigidit... ORPHA:225154
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Bradykinesia, Abnormal circulating calcium concentratio... OMIM:213600
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Bradykinesia, Chorea, Limb ataxia, Myoclonus, Gait ataxia, ... OMIM:607136
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Oculomo... OMIM:617145
Spastic Paraplegia 12, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Ankle clonus, Babinski s... OMIM:604805
Spastic Paraplegia 19, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Ankle clonus, Babinski s... OMIM:607152
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Tremor, Babinski sign, L... OMIM:600363
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Spastic gait, Cerebellar atrophy, Hand tremor, Head tremor, Limb dysmetria, U... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Cerebellar atrophy, Reduced sperm motility, Difficulty walking, Infertility, He... ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Spastic gait, Progressive spastic paraplegia, Urinary bladder sphincter dysfunc... ORPHA:306511
Spastic Paraplegia 37, Autosomal Dominant
Spastic paraplegia, Spastic gait, Ankle clonus, Babinski sign, Lower limb spasticity, Urinary inc... OMIM:611945
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Difficulty walking, Abnormal cerebe... ORPHA:98
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Urinary incontinence, Dystonia OMIM:600795
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Spastic gait, Cerebellar atrophy, Tremor, Babins... OMIM:616795
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Ankle clonus, Babinski s... OMIM:604187
Spastic Paraplegia 13, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Babinski sign, Lower lim... OMIM:605280
Spastic Paraplegia 18A, Autosomal Dominant
Ankle clonus, Loss of ambulation, Babinski sign, Lower limb spasticity, Gait disturbance, Urinary... OMIM:620512
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Gait disturbance, Urin... ORPHA:100988
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperlipidemia, Gait disturbance, Tetraplegia, Gliosis, Mildly eleva... OMIM:604484
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Dysdiadochokinesis, Postural tr... OMIM:300623
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Dysdiadochokinesis, Spastic tetraparesis, Difficulty walk... OMIM:612319
Spastic Paraplegia 8, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Low back pain, Babinski ... OMIM:603563
Autosomal Dominant Spastic Paraplegia Type 13
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Babinski sign, Lower lim... ORPHA:100994
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Spastic gait, Tip-toe gait, Dysmetria,... OMIM:613647
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Lower limb pain, Gait ataxia, Limb ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Gait ataxia, Babinski sign, Abnormal pyramidal sign, Lower limb spastici... ORPHA:352641
Autosomal Dominant Spastic Paraplegia Type 8
Spastic gait, Progressive spastic paraplegia, Difficulty walking, Limb ataxia, Limb dysmetria, Ba... ORPHA:100989
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Spastic gait, Abnormal circulating cholesterol concentration, Postural tremor... OMIM:270800
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking... ORPHA:444099
Spinocerebellar Ataxia, Autosomal Recessive 27
Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, Gl... OMIM:618369
Autosomal Dominant Spastic Paraplegia Type 12
Spastic gait, Male sexual dysfunction, Progressive spastic paraplegia, Female sexual dysfunction,... ORPHA:100993
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca... ORPHA:300605
Spastic Paraplegia 36, Autosomal Dominant
Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity, Urinary incontinence, Uri... OMIM:613096
Spastic Paraplegia 7, Autosomal Recessive
Spastic paraplegia, Spastic gait, Cerebellar atrophy, Dysdiadochokinesis, Upper limb hypertonia, ... OMIM:607259
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia OMIM:143100
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Gait ataxia, Dysmetria, Babinski sign, Lower limb spastic... OMIM:616907
Spastic Paraplegia 3, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Paraplegia, Babinski sig... OMIM:182600
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Urinary incontinence, Unsteady gait, Bradykinesi... OMIM:183090
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Failure to thrive, Fasciculations, Incoordination, Abnormality of extrapyrami... ORPHA:309162
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Spasticity of facial muscles, Opis... OMIM:205100
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Spastic gait, Tip-toe gait, Urinary bladder sphincter dysfunction, Obesity, A... OMIM:604360
Primary Orthostatic Tremor
Myalgia, Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Spastic gait, Cerebellar atrophy, Resting tremor, Cerebellar vermis a... ORPHA:458803
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign,... ORPHA:204
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gait distu... OMIM:221770
Spastic Paraplegia 4, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Paraplegia, Low back pai... OMIM:182601
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... OMIM:615768
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morpholog... ORPHA:100070
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 8
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Bradykinesia, Cerebellar vermis atrophy, ... ORPHA:98760
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Microphallus, Abnormal cerebellum morphology, Tremor, H... OMIM:300957
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... OMIM:602099
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C... OMIM:225753
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Trigeminal neuralgia... ORPHA:282166
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Shuffling gait, Urinary bladder sphincter dysfunction, Babinski sign, Lower l... OMIM:300266
3-Methylglutaconic Aciduria, Type I
Spasticity, Failure to thrive, 3-Methylglutaconic aciduria, Ataxia, Urinary incontinence, Dystoni... OMIM:250950
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Bradykinesia, Rigidity, Babinski si... ORPHA:289560
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Huntington Disease-Like 1
Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Babinski sign, Lower limb spasticity, Torticollis, Urinar... OMIM:619686
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigid... OMIM:618877
Glutathionuria
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis OMIM:231950
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Cerebellar atrophy, Tremor ORPHA:423296
Huntington Disease-Like 3
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Unsteady gait, Abnormal pyramid... OMIM:604802
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Gait disturbance, Ataxia, Urinary incontinence OMIM:603472
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaric aciduria, Spasticity, Failure to thrive, 3-Methylglutaconic aciduria, Clonus, Hy... OMIM:617698
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, Spastic gait, Dysmetria, Babinski sign, Lower limb spasticity, Ataxia, Urinar... OMIM:613206
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Paraplegia, Abnormal cer... OMIM:270700
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Autosomal Dominant Spastic Paraplegia Type 36
Spastic gait, Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, Urinary incon... ORPHA:320365
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Gait disturbance, Gliosis, Primary amenorrhea, Premature ovarian insufficiency, Unste... OMIM:603896
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Incoordination, Difficulty walking, Gait ataxia, Babinski sign, Clumsiness, Abnor... OMIM:616688
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Difficulty walking, Obesity, Unsteady gait, Lower lim... ORPHA:464282
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Cerebellar atrophy, Tremor ORPHA:217012
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysdiadochokinesis, Incoordination, Limb fasciculations, Limb ataxia, Gait at... OMIM:603516
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Rigidity, Parkinsonism, Apraxia, Gait disturbance, Gliosis, Bradykinesia OMIM:221820
Baralle-Macken Syndrome
Spasticity, Inability to walk, Obesity, Urinary incontinence, Dystonia OMIM:619255
Machado-Joseph Disease
Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Urinary bladder sphincter dysfunct... OMIM:109150
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Spasticity, Broad-based gait, Tetraparesis, Progressive sp... ORPHA:206448
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Elevated circulating creatine kinase concentration, Tremor, Fasciculations OMIM:615048
Syringomyelia, Noncommunicating Isolated
Neck pain, Gait ataxia, Chiari type I malformation, Babinski sign, Lower limb spasticity, Urinary... OMIM:186700
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Mildly elevated creatine kinase, Difficulty walking, Myalgia, Tremor, Back pain, ... ORPHA:329478
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Spastic gait, Resting tremor, Abnormal upper motor neuron morphology, Gait at... OMIM:601162
3-Methylglutaconic Aciduria Type 9
Spasticity, Failure to thrive, Slender build, 3-Methylglutaconic aciduria, Clonus, Urinary incont... ORPHA:505216
Adult Polyglucosan Body Disease
Spasticity, Urinary bladder sphincter dysfunction, Hemiparesis, Abnormality of extrapyramidal mot... ORPHA:206583
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Ataxia, Urinary incontinence, Dystonia OMIM:620094
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Tremo... ORPHA:363710
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis OMIM:607341
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Neurogenic bladder, Gai... OMIM:263570
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Chorea, Myoclonus,... ORPHA:248111
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Rigidity, ... ORPHA:247234
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Urinary i... OMIM:607225
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Astrocytosis, Abnormality of extrapyramidal motor function, Gait disturbance, Upp... ORPHA:275864
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Gliosis, Auton... OMIM:169500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism... OMIM:105550
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo... ORPHA:98762
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Urinary retention, Pseudobulbar paralysis, Tremor, Babinski sign,... OMIM:616586
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Micropenis, Over... ORPHA:457240
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticol... ORPHA:98768
Siddiqi Syndrome
Urinary incontinence, Limb dystonia OMIM:618635
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Difficulty walking, Slender build, Inability to walk, Astrocytosis OMIM:611087
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... OMIM:607317
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Gliosis OMIM:614959
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni... OMIM:168601
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Babinski sign, Clonus, Urinary incontinence, Dystonia, Bowel incontinence, Pr... OMIM:618868
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski ... ORPHA:521406
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Loss of ambulation, Babinski sign, Urinary incontinence, Spastic tetraparesis OMIM:249900
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, L... ORPHA:280210
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, In... ORPHA:101110
Adrenoleukodystrophy
Spastic paraplegia, Elevated circulating long chain fatty acid concentration, Urinary bladder sph... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Progressive spastic paraplegia, Bradykinesia, Myoclonus, Paroxysm... ORPHA:466722
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Neonatal hyperbilirubinemia, Urinary hesitancy, Babinski sign, Lower limb spa... OMIM:609727
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Urinary retention, Male sexual dysfunction, Progressive sp... ORPHA:79093
Autosomal Recessive Ataxia, Beauce Type
Arm dystonia, Spasticity, Cerebellar atrophy, Fasciculations, Upper motor neuron dysfunction, Dys... ORPHA:88644
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Tremor, Hyperphenylalaninemia, Hypertonia, Transient hyperphe... OMIM:264070
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, L-2-hydroxyglutaric aciduria, Abnormality of extrapyramidal motor function, A... OMIM:236792
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Tremor OMIM:312910
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Spasticity, Dysmetria, Rigidity, Low back pain, Babinski sign, Abnormality of extrapyramidal moto... OMIM:600142
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hypertonia, Small for ... OMIM:615095
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Falls, Abnormal cerebellum morphology, Lower limb pain, Tremor, Low back pain, Babi... ORPHA:447753
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Urinary incontinence, Inability to walk OMIM:620368
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Bradykinesia, Hemiplegia, Chorea, G... ORPHA:225147
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Hemimegalencephaly
Myoclonus, Abnormal neuron morphology, Gliosis, Hemiparesis ORPHA:99802
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Gastrocnemius myalgia, Fasciculations, Inability to walk, Tremor, Elevated... ORPHA:276435
Huntington Disease
Involuntary movements, Decreased body mass index, Abnormal circulating cholesterol concentration,... ORPHA:399
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Intellectual Developmental Disorder, X-Linked 29
Urinary incontinence, Babinski sign OMIM:300419
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Inability to walk, Cerebellar cyst, Abnormal medullary pyramid morphol... ORPHA:79243
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Aplasia/... ORPHA:79262
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Spastic paraparesis, Bradykinesia, Increased total... ORPHA:309854
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Abnormal astrocyte morphology, Elevated circulating creatine kina... ORPHA:168486
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentr... OMIM:618387
Spermatogenic Failure 17
Male infertility OMIM:617214
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Amyotrophic Dystonic Paraplegia
Urinary incontinence, Spastic paraplegia, Dystonia, Bowel incontinence OMIM:105300
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy, Incoordination, Spasticity OMIM:126200
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Multiple System Atrophy 1, Susceptibility To
Olivopontocerebellar atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary inco... OMIM:146500
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Spastic paraplegia, Cerebellar atrophy, Dysdiadochokinesis, Generalized dyston... ORPHA:171629
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai... OMIM:128230
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Gait disturbance, Loss of ambulation OMIM:615284
Chiari Malformation Type I
Neck pain, Gait ataxia, Chiari type I malformation, Babinski sign, Lower limb spasticity, Urinary... OMIM:118420
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spastic tetr... OMIM:612936
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Hippocampal sclerosis, Tremor OMIM:615400
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Bab... OMIM:611302
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Bradykinesia, Akinesia, Rigidity, Parkinsonism, Parkinsonism with... ORPHA:411602
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Cerebral palsy, Limb dystonia, Myoclonus, Opisthotonus, Ba... OMIM:619847
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Cogwheel rigi... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apra... OMIM:300423
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Aplasia of the inferior half of the cer... OMIM:610185
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Elevated circulating cre... OMIM:617193
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Fatigue, Parkinsonism ... ORPHA:314632
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park... OMIM:260300
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnormal pyramidal... OMIM:105210
Pulmonary Blastoma
Chest pain, Weight loss ORPHA:64741
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Marchiafava-Bignami Disease
Tetraparesis, Gait ataxia, Hemiparesis, Rigidity, Apraxia, Abnormal pyramidal sign, Limb hyperton... ORPHA:221074
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Idiopathic Achalasia
Chest pain, Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Leigh Syndrome, Nuclear
Spasticity, Failure to thrive, Gliosis, Ataxia, Dystonia OMIM:256000
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Delayed menarche, Inability to walk, T... ORPHA:330050
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Astrocytosis, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Rigidity, Gait... OMIM:601104
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Gait disturbance, Bowel incontinence OMIM:236690
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Trem... OMIM:618090
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... OMIM:614018
Unilateral Focal Polymicrogyria
Urinary incontinence, Spastic hemiparesis, Poor fine motor coordination, Hemiparesis ORPHA:268947
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Cerebellar atrophy, Decerebrate rigidity, Laryngeal dystonia... ORPHA:845
Adrenomyeloneuropathy
Spasticity, Spastic gait, Urinary retention, Male sexual dysfunction, Urinary bladder sphincter d... ORPHA:139399
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Urocanase Deficiency
Broad-based gait, Gait ataxia, Urocanic aciduria, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Amenorrhea, Oligomenorrhea, Urinary incontinence, ... ORPHA:2795
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increas... OMIM:617916
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Spastic tetraplegia, Cerebellar atrophy, Resting tremor, Falls, Gait ataxia, ... OMIM:617225
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615362
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... ORPHA:2590
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cer... ORPHA:98763
Peroxisome Biogenesis Disorder 14B
Chiari type I malformation, Urinary incontinence, Loss of ambulation, Hypertonia OMIM:614920
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Abnormality of extrapyramidal motor function OMIM:604218
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Elevated plasma citrulline,... ORPHA:3124
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Cerebellar hypoplasia, Head titubation, Gliosis, Ve... ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Hyperkinetic movements, Ataxia, Urinary incontinence, ... OMIM:300243
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Pelizaeus-Merzbacher Disease
Ataxia, Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Cerebellar... OMIM:312080
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, Gliosis, Dystonia, Extrapyra... OMIM:277470
Sandhoff Disease
Ataxia, Spasticity, Fasciculations, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Metachromatic Leukodystrophy
Chorea, Babinski sign, Gait disturbance, Tetraplegia, Ataxia, Urinary incontinence, Dystonia, Spa... OMIM:250100
Spinocerebellar Ataxia 23
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign OMIM:610245
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, ... ORPHA:397946
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to wa... OMIM:617013
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... OMIM:159950
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Bradykinesia... ORPHA:454887
Metachromatic Leukodystrophy, Late Infantile Form
Spasticity, Decerebrate rigidity, Tip-toe gait, Gait ataxia, Babinski sign, Progressive gait atax... ORPHA:309256
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Diaphragmatic paralysis, Urinary incontinence, Small for gestational age, Dege... OMIM:604320
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Dysmetria, Tremor, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Bradykinesia... ORPHA:391411
Progressive Supranuclear Palsy
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Gliosis, Unsteady gait, Dystonia ORPHA:683
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia... OMIM:619405
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Elevated circulating creatine kinase c... ORPHA:496641
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Exercise intolerance, Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, P... ORPHA:139485
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Fasciculations, Inability to walk, Head tremor, Limb ataxia, Gait ataxia, Steppage g... ORPHA:101085
Metachromatic Leukodystrophy, Adult Form
Spasticity, Decerebrate rigidity, Difficulty walking, Chorea, Progressive spastic quadriplegia, B... ORPHA:309271
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Mantle Cell Lymphoma
Fatigue, Weight loss ORPHA:52416
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Cerebellar vermis atrophy, Head tremor, P... ORPHA:64753
Urocanic Aciduria
Broad-based gait, Gait ataxia, Urocanic aciduria, Action tremor, Ataxia, Abnormal circulating his... ORPHA:210128
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Rigidity, Babinski sign, Clonus, Gliosis, Hypertonia, Myoclonic spasms, Limb hypertonia OMIM:614498
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Metachromatic Leukodystrophy
Decerebrate rigidity, Tip-toe gait, Incoordination, Impaired continence, Limb pain, Pain, Tremor,... ORPHA:512
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Tremor, Pa... OMIM:618049
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Spinocerebellar Ataxia 7
Spasticity, Chorea, Olivopontocerebellar atrophy, Tremor, Dysmetria, Babinski sign, Abnormality o... OMIM:164500
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Abnormal pyramidal sign, Gliosis, Ataxia, Unsteady gait, Spastic tetraplegia OMIM:256600
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Combined Oxidative Phosphorylation Deficiency 58
Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, Hyperpro... OMIM:620451
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... OMIM:617810
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Obesity, Action tremor, ... ORPHA:93952
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a... OMIM:614307
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Metachromatic Leukodystrophy, Juvenile Form
Spasticity, Decerebrate rigidity, Babinski sign, Progressive gait ataxia, Clumsiness, Urinary inc... ORPHA:309263
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Difficulty walking, Abnormal cerebellum morpho... ORPHA:137898
Leigh Syndrome
Spasticity, 3-Methylglutaconic aciduria, Ataxia, Nephrotic syndrome, Choreoathetosis, Generalized... ORPHA:506
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Postural tremor, Head tremor, Chorea, Action tremo... OMIM:620158
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulati... OMIM:208920
Myopathy, Myofibrillar, 7
Enuresis nocturna, Difficulty walking, Myalgia, Elevated circulating creatine kinase concentratio... OMIM:617114
Autosomal Dominant Centronuclear Myopathy
Difficulty walking, Large for gestational age, Exercise-induced myalgia, Urinary incontinence, Mi... ORPHA:169189
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Cerebellar atrophy, Failure to thrive, Tetraparesis, Astrocytosis, Myoclonus, 3-Methylg... OMIM:203700
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Phenylketonuria
Musty odor, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Urinary incontinence, Spasticity OMIM:613115
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Unsteady gait, ... ORPHA:79263
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Organic aciduria, Dysdiadochokinesis, Myoclonus, Intention tremor, Dysmetria,... OMIM:301310
Neuroectodermal Melanolysosomal Disease
Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebellar verm... ORPHA:33445
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Classic Galactosemia
Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Primary amenorrhe... ORPHA:79239
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ... OMIM:313200
Posterior Column Ataxia With Retinitis Pigmentosa
Urinary incontinence, Broad-based gait, Ataxia, Recurrent urinary tract infections OMIM:609033
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Neck pain, Limb pain, Dark urine, Increased urinary po... ORPHA:79276
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Urinary i... OMIM:620070
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Ab... OMIM:617435
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Gliosis, Hypertonia OMIM:608033
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Bradykinesia, Incoordination, Limb fasci... OMIM:615157
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Hsd10 Disease
Ataxia, Elevated urinary 3-hydroxybutyric acid, Spastic paraparesis, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Cerebellar hypoplasia, Gliosis, Small for gestational age OMIM:214150
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Inability to walk, Limb fasciculations, Tremor, Elevated circu... ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Spasticity, Cerebellar atrophy, Elevated circulating creatine... OMIM:616239
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Limb dystonia, Gliosis, Increased serum pyruvate, Basal ganglia gliosis OMIM:604377
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Ataxia, Dystonia OMIM:617836
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spastic Paraplegia 54, Autosomal Recessive
Spastic paraplegia, Rigidity, Babinski sign, Urinary incontinence, Bowel incontinence, Upper limb... OMIM:615033
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Pal... ORPHA:363717
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... OMIM:612953
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski ... OMIM:607694
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Bradykinesia, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hyperph... OMIM:261640
Coenzyme Q10 Deficiency, Primary, 4
Exercise intolerance, Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Dysmetria, Babinski sign, Steppage gait, Hype... OMIM:616505
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue tremor, Cerebellar atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Inability to... ORPHA:466768
Familial Acute Necrotizing Encephalopathy
Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia ORPHA:88619
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Bab... OMIM:609270
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Spasticity, Cerebellar atrophy, Resting tremor, Head tremor, Babinski sign, Ataxia, Urinary incon... ORPHA:314404
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Spastic tetraparesis, Increased... OMIM:252150
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Upper motor neuron dysfunction, ... ORPHA:306674
Pure Autonomic Failure
Urinary incontinence, Impotence, Dysuria, Constitutional symptom ORPHA:441
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Weight loss, Elevated circulating carcinoembryonic antigen concentration ORPHA:100083
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Tremor, Dysmet... OMIM:302800
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ... OMIM:612736
Pick Disease Of Brain
Gliosis OMIM:172700
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ataxia, Abdominal pain OMIM:613662
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Hemiplegia, Stress urinary incontinence, Gait disturbance, Parkinsonism ORPHA:136
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive ... ORPHA:289494
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Male hypogonadism, Shuffling gait, Resting tremor, Brady... OMIM:300055
Wieacker-Wolff Syndrome, Female-Restricted
Urinary incontinence, Spasticity, Oculomotor apraxia, Inability to walk OMIM:301041
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Bradykinesia, Akinesia, Tremor, Rigidity, Abnormality of extrapyramida... OMIM:234200
Arachnoid Cyst
Chiari malformation, Sciatica, Urinary bladder sphincter dysfunction, Tetraparesis, Inability to ... ORPHA:2356
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Gai... ORPHA:216866
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Exercise intolerance, Decreased circulating carniti... ORPHA:26791
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin... OMIM:606159
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Highly elevated ... ORPHA:258
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Difficulty walking, Ankle clonus, Gliosis, Dystonia, Increased serum pyruvate OMIM:618222
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston... ORPHA:352649
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Lissencephaly, X-Linked, 2
Micropenis, Spasticity, Gliosis OMIM:300215
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progres... OMIM:616640
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Oculomot... OMIM:614867
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Cerebellar dentate nucleus calcification, Hydrourete... ORPHA:90324
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Cerebellar atrophy, Myoclonus, Gliosis, Elevated hepatic iron concentration, Basal... OMIM:614946
Neuroleptic Malignant Syndrome
Acute kidney injury, Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscula... ORPHA:94093
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Rigidity, Parkinso... OMIM:609454
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Substantia nigra gliosis, Rig... OMIM:168600
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Chest pain, Tremor, Hemat... ORPHA:94080
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sig... OMIM:606693
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss... OMIM:168605
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Atypical Rett Syndrome
Spasticity, Coldness, Pill-rolling tremor, Involuntary movements, Limb myoclonus, Hand apraxia, I... ORPHA:3095
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Pseudobulbar paralysis, Gait disturbance, Hemiparesis OMIM:125310
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Paganini-Miozzo Syndrome
Urinary incontinence, Hyperalaninemia OMIM:301025
Cockayne Syndrome
Spasticity, Difficulty walking, Action tremor, Cachexia, Ataxia, Urinary incontinence, Nephrotic ... ORPHA:191
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor... OMIM:614298
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Tremor, Urinary incontinence, Hypercalcemia ORPHA:476126
Porphyria, Acute Intermittent
Urinary retention, Elevated urinary delta-aminolevulinic acid, Respiratory paralysis, Paralysis, ... OMIM:176000
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Pain, Hyperkinetic moveme... ORPHA:93958
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Gliosis, Ataxia, Dystonia, Spastic tetraplegia OMIM:618321
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Tremor, Proteinuria, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hyperto... ORPHA:1192
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapy... ORPHA:53351
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Isaacs Syndrome
Weight loss, Fasciculations ORPHA:84142
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Acute Transverse Myelitis
Spasticity, Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Paraplegia, Upper... ORPHA:139417
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Abnormal astrocyte morphology, Tremor, Babinski sign, Gait dist... ORPHA:83629
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Large for gestational age, Vesicoureteral reflux, Cerebellar hypoplasia, Glios... ORPHA:261652
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Urinary incontinence, Involuntary movements, Paroxysmal dystonia ORPHA:98784
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ... OMIM:252160
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia OMIM:619556
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Ataxia, Urinary retenti... ORPHA:99027
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysdiadochokinesis, Progres... ORPHA:254881
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abn... OMIM:615673
Neuropathy, Hereditary Sensory And Autonomic, Type V
Urinary incontinence, Low back pain, Hand tremor OMIM:608654
Attrv30M Amyloidosis
Nephropathy, Weight loss, Impotence, Abnormal renal physiology ORPHA:85447
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Encephalitis Lethargica
Limb pain, Myalgia, Tremor, Parkinsonism, Urinary incontinence, Bowel incontinence ORPHA:83600
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... OMIM:613135
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Vesicoureteral reflux, Loss of ambulation, Babinski sign, Weight... ORPHA:3208
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine... OMIM:615273
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... OMIM:233910
Riboflavin Transporter Deficiency
Hypogonadism, Myoclonus, Tremor, Cachexia, Ataxia ORPHA:97229
East Syndrome
Cerebellar atrophy, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagn... ORPHA:199343
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Undifferentiated Pleomorphic Sarcoma
Fatigue, Weight loss ORPHA:2023
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu... ORPHA:542310
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath... OMIM:612438
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
Aceruloplasminemia
Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula... ORPHA:48818
Peritoneal Cystic Mesothelioma
Metrorrhagia, Weight loss, Dyspareunia, Abdominal pain, Menorrhagia ORPHA:168816
Christianson Syndrome
Cerebellar atrophy, Gait ataxia, Cachexia, Aplasia/Hypoplasia of the cerebellum, Truncal ataxia, ... ORPHA:85278
Pelizaeus-Merzbacher Disease
Spasticity, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Gait distu... ORPHA:702
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss ORPHA:98897
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait ataxia, Tremo... OMIM:614381
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Hypotriglyceridemia, Cerebellar atrophy, Failure to thrive, Inability ... ORPHA:404454
Cog5-Cdg
Cerebellar atrophy, Neurogenic bladder, Micropenis, Urinary incontinence, Truncal ataxia ORPHA:263487
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Pontocerebellar atrophy, Tremor, Hydronephrosis, Cerebellar hypoplasia, Abnormal ... OMIM:618060
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Cerebellar hy... ORPHA:529665
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Cerebellar atrophy, Myoclonus, Tremor, Elevated circulating c... OMIM:607426
Chronic Hiccup
Weight loss, Recurrent singultus ORPHA:396
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Vocal cord paresis, Urinary urgency OMIM:606071
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Cystathioninuria
Cystathioninuria, Cystathioninemia, Tremor, Nephrolithiasis ORPHA:212
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski sign, Gliosis, Truncal obesi... OMIM:301072
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Bradykinesia, Increased total iron binding capacity, Tremor, Rigidity, Abnor... OMIM:613280
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast... ORPHA:3077
Glycogen Storage Disease Ii
Exercise intolerance, Difficulty walking, Diaphragmatic paralysis, Elevated circulating creatine ... OMIM:232300
Dopa-Responsive Dystonia Due To Sepiapterin Red