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Gene: Pi4k2a MGI:1934031

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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

Order Alleles

IMPC Data Collections

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

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.

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 Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Babi... OMIM:607565
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Spasticity, Gait at... ORPHA:225154
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... OMIM:213600
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Rigid... OMIM:607136
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Urinary incontinence, Hypergonadotropic hypogonadism, Tremor, Abnorma... OMIM:617145
Spastic Paraplegia 12, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... OMIM:604805
Spastic Paraplegia 19, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... OMIM:607152
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... OMIM:600363
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegi... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Babins... ORPHA:320391
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Elevated circulating creat... ORPHA:306511
Spastic Paraplegia 37, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Urinary urgency, ... OMIM:611945
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia OMIM:600795
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ... OMIM:616795
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Babinski sign, Spastic paraple... OMIM:604187
Spastic Paraplegia 13, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Urinary urgency, ... OMIM:605280
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gliosis, Fascicula... OMIM:604484
Autosomal Dominant Spastic Paraplegia Type 6
Lower limb spasticity, Postural tremor, Urinary incontinence, Babinski sign, Spastic paraplegia, ... ORPHA:100988
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, L-2-hydroxyglutaric acidemia, Ataxia, Spastic tetraparesis, Abnormal pyramida... OMIM:236792
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Ba... OMIM:612319
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Babinski sign, Abnormal pyramida... ORPHA:100994
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Ur... OMIM:603563
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary inc... OMIM:300623
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Spastic para... OMIM:613647
Spinocerebellar Ataxia 43
Ataxia, Tremor, Lower limb pain, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Urinary incontinence, Abnormal cerebellum morphology, Bab... OMIM:270800
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Spastic Paraplegia 36, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Urinary urgency, ... OMIM:613096
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis OMIM:143100
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Urinary incontinence, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... OMIM:616907
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Urinary incontinence, B... OMIM:607259
Spastic Paraplegia 3, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Paraplegia, Urina... OMIM:182600
Spinocerebellar Ataxia 2
Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Ataxia, Parkinsonism, Myo... OMIM:183090
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Abnorm... ORPHA:309162
Amyotrophic Lateral Sclerosis 2, Juvenile
Urinary incontinence, Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ... OMIM:205100
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Urinary incontinence, Clonus, Babinski sign, Limb ataxia, Urinary urgency,... ORPHA:100989
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Urinary incontinence, Progressive spastic paraparesis, Babinski sign, Urin... ORPHA:444099
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Obesity, ... OMIM:604360
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
Perineural Cyst
Urinary incontinence, Neurogenic claudication, Retrograde ejaculation, Urinary bladder sphincter ... ORPHA:65250
Primary Orthostatic Tremor
Tremor, Myalgia, Abnormality of extrapyramidal motor function ORPHA:238606
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Abnormality of extrapyramidal motor... ORPHA:204
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Babinski sign, Gliosis, Myoclonus, Gait disturbance, Apraxia, Abnormal uppe... OMIM:221770
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Urinary incontinence, Babinski sign, Spastic paraplegia, ... OMIM:607225
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Pa... OMIM:182601
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... ORPHA:458803
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Urinary incontinence, Bowel incontinence, Babinski sign, Limb atax... ORPHA:100993
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Huntington Disease-Like 3
Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign,... OMIM:604802
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Babi... OMIM:602099
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... OMIM:225753
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Trigeminal neuralgia, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign... ORPHA:282166
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Ataxia, Urinary incontinence, Hypoplasia of the pons, Rigidity, Unsteady gait... ORPHA:98760
Spastic Paraplegia 16, X-Linked
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic paraplegia, Tetraplegia, Urin... OMIM:300266
3-Methylglutaconic Aciduria, Type I
Ataxia, Urinary incontinence, Spastic tetraplegia, Athetosis, 3-Methylglutaconic aciduria, Dyston... OMIM:250950
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Bowel incontinence, Cho... ORPHA:157946
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Hand t... ORPHA:289560
Glutathionuria
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor OMIM:231950
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Torticollis, Urinary incontinence, Babinski sign, Spas... OMIM:619686
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... OMIM:603516
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Rigidity, Head titubati... OMIM:618877
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Neuronal Intranuclear Inclusion Disease
Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance OMIM:603472
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Clonus, Choreoathetosis, 3-Methylglutaric aciduria, 3-Methylglutaconic acid... OMIM:617698
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Unsteady gait, Obesity, Fasci... ORPHA:464282
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred sp... ORPHA:98772
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... OMIM:613206
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Urinary incontinence, Bowel incontinence, Clonus, Abnormal cerebel... OMIM:270700
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Gait ataxia... OMIM:616688
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Gliosis... OMIM:603896
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Gliosis, Gait disturbance, Shuffling gait, Apraxia, Spasticity OMIM:221820
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance, Mic... ORPHA:457240
Baralle-Macken Syndrome
Urinary incontinence, Inability to walk, Obesity, Dystonia, Spasticity OMIM:619255
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... OMIM:109150
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Intellectual Developmental Disorder, X-Linked 29
Babinski sign, Testicular dysgenesis, Urinary incontinence OMIM:300419
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Clonus, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive, Slender... ORPHA:505216
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity OMIM:620094
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autosomal Dominant Spastic Paraplegia Type 36
Lower limb spasticity, Urinary incontinence, Babinski sign, Urinary urgency, Spastic gait, Progre... ORPHA:320365
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Chiari ty... OMIM:186700
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffmann sign, Babinski sign, Spasti... OMIM:601162
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Hemiparesis, Abnormali... ORPHA:206583
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradyki... ORPHA:248111
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Urinary incontinence, Spastic paraplegia, Gait disturbance, Tetraparesis, Abn... OMIM:263570
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neurogenic bladder, Lower limb spasticity, Detrusor sphincter dyssynergia, U... ORPHA:466722
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Rigidity, Babinski sign, Sp... ORPHA:247234
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upp... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gliosis, Myoclonus, Gait d... OMIM:168601
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... OMIM:264070
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Urinary incontinence, Limb ataxia, Titubation, Urinary urgency, ... ORPHA:98768
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly... OMIM:616586
Siddiqi Syndrome
Urinary incontinence, Limb dystonia OMIM:618635
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Nephrocalcinosis, Difficulty walking, Slender build OMIM:611087
Developmental And Epileptic Encephalopathy 14
Spasticity, Gliosis, Clonus, Tetraplegia OMIM:614959
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Bowel incontinence, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis... OMIM:169500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Myalgia, Fasciculation... ORPHA:329478
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle c... ORPHA:521406
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Urinary incontinence, Progressiv... ORPHA:206448
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ... ORPHA:280210
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Urinary incontinence, Spastic tetraparesis, Babinski sign, Gait ataxia, Loss of ambulation OMIM:249900
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Urinary incontinence, Bowel incontinence, Babinski sign, Progressive ... OMIM:618868
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spastic Paraplegia 29, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Clonus, Urinary hesitancy, Spastic paraplegia, Babin... OMIM:609727
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Gastrocnemius myalgia, Tremor, Inability to w... ORPHA:276435
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Dysmetria... ORPHA:88644
Primary Progressive Freezing Gait
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbala... ORPHA:75567
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Adrenoleukodystrophy
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... OMIM:300100
Foix-Alajouanine Syndrome
Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Bowel incontinence, Progressi... ORPHA:79093
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Hypertonia, Cerebellar hemisphere hypoplasia, Glio... OMIM:615095
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Ataxia, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Abnorma... OMIM:600142
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology ORPHA:99802
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Urinary incontinence, Tremor, Abnormal cerebellum morphology, Babinski sign, Abnor... ORPHA:447753
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Inability to walk, Urinary incontinence OMIM:620368
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... ORPHA:225147
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl... OMIM:619847
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosi... ORPHA:79243
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Astrocytosis, B... ORPHA:309854
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Elevated circulating creatine kinase concentra... ORPHA:168486
Huntington Disease
Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig... ORPHA:399
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... OMIM:618387
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Gait ataxia,... ORPHA:352641
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Elevated circulating cre... OMIM:617193
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Incoordination, Urinary incontinence, Spasticity OMIM:126200
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... ORPHA:411602
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Urinary incontinence, Bowel inco... ORPHA:171629
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Urinary incontinence, Bowel incontinence, Dystonia OMIM:105300
Charcot-Marie-Tooth Disease, Type 4B3
Loss of ambulation, Gait disturbance, Urinary incontinence OMIM:615284
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... OMIM:612936
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Chiari Malformation Type I
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Chiari ty... OMIM:118420
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnorma... OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... OMIM:300423
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Multiple System Atrophy 1, Susceptibility To
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... OMIM:146500
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclo... ORPHA:314632
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Pulmonary Blastoma
Chest pain, Weight loss ORPHA:64741
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Urinary incontinence, Babinski sign, Spastic gait, Progressive spastic par... ORPHA:171617
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Marchiafava-Bignami Disease
Ataxia, Urinary incontinence, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait d... ORPHA:221074
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemipares... OMIM:105210
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Idiopathic Achalasia
Chest pain, Decreased prealbumin level, Weight loss ORPHA:930
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... OMIM:601104
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, D... ORPHA:330050
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very ... OMIM:617916
Unilateral Focal Polymicrogyria
Hemiparesis, Poor fine motor coordination, Urinary incontinence, Spastic hemiparesis ORPHA:268947
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Dystonia ORPHA:683
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Urocanase Deficiency
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Adrenomyeloneuropathy
Back pain, Fatigue, Female sexual dysfunction, Urinary incontinence, Bowel incontinence, Abnormal... ORPHA:139399
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Urinary incontinence, Bowel incontinence OMIM:236690
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Menorrhagia, Urinary retention, Oligom... ORPHA:2795
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Saccharopinuria
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia... ORPHA:3124
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-... ORPHA:845
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... OMIM:615924
Leigh Syndrome
Ataxia, Gliosis, Dystonia, Spasticity, Failure to thrive OMIM:256000
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Gliosis OMIM:256600
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Urinary incontinence, Bowel incontinence, Loss of ability to walk in ... OMIM:300243
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... ORPHA:3240
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... OMIM:277470
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ... OMIM:159950
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre... OMIM:312080
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Large for gestational age, Cryptorchidism, Exercise-induced myalgia, Diffic... ORPHA:169189
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia OMIM:610245
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase... OMIM:617013
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Urocanic Aciduria
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... OMIM:619405
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Metachromatic Leukodystrophy
Ataxia, Urinary incontinence, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait distu... OMIM:250100
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Tuberculosis
Fatigue, Weight loss ORPHA:3389
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Urinary incontinence, Diaphragmatic paralysis, Degeneration of anterio... OMIM:604320
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
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Babinski sign, Clumsiness, Gait ataxia, Progressive gait ataxia, Tip-toe ga... ORPHA:309256
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Atypical Juvenile Parkinsonism
Fatigue, Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal p... ORPHA:391411
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Autosomal Recessive Frontotemporal Pachygyria
Urinary incontinence ORPHA:329329
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Inability to walk, Unsteady gait, Hand tremor, Gait ataxia, Limb ataxia, St... ORPHA:101085
Sandhoff Disease
Exaggerated startle response, Ataxia, Urinary incontinence, Episodic abdominal pain, Impotence, F... OMIM:268800
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Neurogenic bladder, Ataxia, Urinary incontinence, Elevated circulating creati... ORPHA:496641
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Exercise intolerance, Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar... ORPHA:139485
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Ele... OMIM:618049
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentration,... OMIM:614307
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Chorea, Babinski sign, Clumsiness, Progressive spastic ... ORPHA:309271
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Limb hypertonia OMIM:614498
Mantle Cell Lymphoma
Fatigue, Weight loss ORPHA:52416
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Metachromatic Leukodystrophy
Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Limb pain, Tip-toe gait... ORPHA:512
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... OMIM:208920
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Abnormality of extrapyramidal... ORPHA:100070
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Small for gestational age, Cryptorchidism, Gliosis, Cerebellar hypoplasia, Fa... OMIM:214150
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Spasti... ORPHA:137898
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... OMIM:137440
Leigh Syndrome
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Ataxia, Renal tubular dysfunction, Ne... ORPHA:506
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, D... ORPHA:309263
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Small for gestational age, Ataxia OMIM:278780
Myopathy, Myofibrillar, 7
Urinary incontinence, Elevated circulating creatine kinase concentration, Bowel incontinence, Enu... OMIM:617114
Classic Galactosemia
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... ORPHA:79239
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Fasciculation... ORPHA:209335
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... ORPHA:33445
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Spasticity, Urinary incontinence OMIM:613115
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation... ORPHA:90117
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... ORPHA:79263
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Aciduria, Paralysis, Astrocytosis, 3-Methylglutaconic aciduria, Hyper... OMIM:203700
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... OMIM:617435
Acute Intermittent Porphyria
Hyponatremia, Back pain, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria, Abdomina... ORPHA:79276
Lissencephaly, X-Linked, 2
Micropenis, Gliosis, Decreased testicular size, Spasticity OMIM:300215
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... OMIM:313200
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Ataxia, Urinary incontinence, Broad-based gait OMIM:609033
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Cerebellar atrophy, Gliosis, Limb dystonia, Basal ganglia gliosis OMIM:604377
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Focal segmental glomerulo... OMIM:616239
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... ORPHA:391417
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Urinary incontinence, Spas... OMIM:620070
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... OMIM:612953
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Aplasia/Hy... ORPHA:1192
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Intellectual Developmental Disorder, Autosomal Recessive 70
Urinary incontinence OMIM:618402
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Coenzyme Q10 Deficiency, Primary, 4
Exercise intolerance, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... OMIM:261640
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Fatigue, Cerebellar atrophy, Urinary incontinence, Tremor, Inability to walk, Babinski sign, Tong... ORPHA:466768
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... OMIM:616505
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic fatigue, Weight loss ORPHA:100083
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... ORPHA:363717
Spastic Paraplegia 54, Autosomal Recessive
Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Spastic paraplegia, Upper limb... OMIM:615033
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dy... OMIM:609270
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Spastic tetraparesis, Increased urinary sulfite level, Ab... OMIM:252150
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity ORPHA:88619
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Urinary incontinence, Babinski sign, Head tremor, Spa... ORPHA:314404
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... OMIM:607694
Kufor-Rakeb Syndrome
Fatigue, Eyelid apraxia, Urinary incontinence, Bowel incontinence, Parkinsonism, Oculogyric crisi... ORPHA:306674
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, T... OMIM:302800
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Pick Disease Of Brain
Gliosis OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... OMIM:300055
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradyk... OMIM:168600
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Parkinsonism, Stress urinary incontinence, Gait disturbance, Hemiplegia, Spasticity ORPHA:136
Orofaciodigital Syndrome Xviii
Urinary incontinence OMIM:617927
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Abdominal pain, Weight loss, Slender build OMIM:613662
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Wieacker-Wolff Syndrome, Female-Restricted
Oculomotor apraxia, Inability to walk, Spasticity, Urinary incontinence OMIM:301041
Arachnoid Cyst
Back pain, Urinary incontinence, Abdominal pain, Abnormal cerebellum morphology, Paraparesis, Ina... ORPHA:2356
Mitochondrial Complex I Deficiency, Nuclear Type 2
Increased serum pyruvate, Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia OMIM:618222
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Pure Autonomic Failure
Dysuria, Impotence, Constitutional symptom, Urinary incontinence ORPHA:441
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac... ORPHA:26791
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... OMIM:606159
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski ... OMIM:234200
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... ORPHA:289494
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Peroxisome Biogenesis Disorder 14B
Hydrocele testis, Urinary incontinence OMIM:614920
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Aminoaciduria, Gliosis, Myoclonus, Elevated hepatic iron concentration, Basal... OMIM:614946
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... ORPHA:93108
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... OMIM:614867
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremo... ORPHA:352649
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Highly elevated creatine kinase, Pontocerebellar atrophy, Decrea... ORPHA:258
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... OMIM:616640
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Neuroleptic Malignant Syndrome
Hyponatremia, Fatigue, Rigors, Extrapyramidal muscular rigidity, Proteinuria, Elevated circulatin... ORPHA:94093
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Elevate... OMIM:614298
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cry... ORPHA:191
Non-Functioning Paraganglioma
Fatigue, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine ... ORPHA:94080
Kufor-Rakeb Syndrome
Fatigue, Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sig... OMIM:606693
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Abdominal pain, Paralysis, Urinary retention, Respiratory paralysi... OMIM:176000
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Unsteady gait, R... ORPHA:90324
Cog5-Cdg
Cerebellar atrophy, Neurogenic bladder, Urinary incontinence, Cryptorchidism, Truncal ataxia, Mic... ORPHA:263487
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Tremor, Gait ataxia, Failure to thrive ORPHA:476126
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Lingual dy... ORPHA:93958
Paganini-Miozzo Syndrome
Hyperalaninemia, Urinary incontinence OMIM:301025
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Gliosis, Myoclonus, Dystonia OMIM:618321
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level OMIM:612126
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... OMIM:615673
Isaacs Syndrome
Fasciculations, Weight loss ORPHA:84142
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Spastic tet... OMIM:252160
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Urinary incontinence OMIM:125310
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... ORPHA:3095
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Urinary incontinence ORPHA:98784
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy OMIM:616719
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Urinary incontinence, Hand tremor OMIM:608654
Encephalitis Lethargica
Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Limb pain, Myalgia ORPHA:83600
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus ORPHA:97229
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Large for gestational age, Gliosis, Cerebellar hypoplasia, Vesicourete... ORPHA:261652
Acute Transverse Myelitis
Back pain, Fatigue, Decreased circulating copper concentration, Urinary incontinence, Paraparesis... ORPHA:139417
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
Undifferentiated Pleomorphic Sarcoma
Fatigue, Weight loss ORPHA:2023
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Congenital Disorder Of Deglycosylation 1
Pain, Involuntary movements, Elevated circulating alpha-fetoprotein concentration, Heparan sulfat... OMIM:615273
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Bowel incontinence, Choreoathetosis, Abnormality ... ORPHA:702
Attrv30M Amyloidosis
Nephropathy, Impotence, Abnormal renal physiology, Weight loss ORPHA:85447
Christianson Syndrome
Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Weight loss, Menorrhagia ORPHA:168816
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Childhood Disintegrative Disorder
Urinary incontinence, Bowel incontinence ORPHA:168782
East Syndrome
Cerebellar atrophy, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enure... ORPHA:199343
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Glycogen Storage Disease Ii
Exercise intolerance, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevat... OMIM:232300
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Small for gestational age, Inability to walk, Chorea, Generalized aminoacidur... ORPHA:404454
Cystathioninuria
Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis ORPHA:212
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Cerebellar atrophy, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine ... OMIM:607426
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Vocal cord paresis, Urinary incontinence OMIM:606071
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertoni... OMIM:301072
Chronic Hiccup
Recurrent singultus, Weight loss ORPHA:396
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Aceruloplasminemia
Abnormal dentate nucleus morphology, Torticollis, Decreased circulating ceruloplasmin concentrati... ORPHA:48818
Focal Myositis
Myalgia, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait dist... ORPHA:83629
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence ORPHA:93928
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... OMIM:233910
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Sp... OMIM:248500
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Gliosis... OMIM:231680
Rhabdoid Tumor
Renal neoplasm, Cerebral palsy, Hypercalcemia, Abdominal pain, Weight loss, Hematuria, Hemiplegia ORPHA:69077
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Neural Tube Defects, Susceptibility To
Urinary incontinence OMIM:182940
Arnold-Chiari Malformation Type I
Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiari type I malformatio... ORPHA:268882
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... OMIM:617675
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... OMIM:618885
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
African Trypanosomiasis
Fatigue, Rigors, Renal insufficiency, Abnormal central motor function, Urinary incontinence, Invo... ORPHA:3385
Wilson Disease
Back pain, Abnormality of the menstrual cycle, Bone pain, Increased body weight, Weight loss, Clu... ORPHA:905
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Ami... ORPHA:1933
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... ORPHA:261529
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Abdominal pain, Elevated urinary dopamine level, Bo... OMIM:256700
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis, Weight loss OMIM:613239
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Abnormal dentate nucleus morphology,... ORPHA:909
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre... OMIM:254900
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Ataxia, Failur... OMIM:300912
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par... OMIM:300894
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Meningioma
Back pain, Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary incontinence, Hypog... ORPHA:2495
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Flank pain, Retrograde ejaculation, Fatigu... ORPHA:49041
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Ataxia, Elevated circulat... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Dystonia, Spast... OMIM:617664
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Elevated circulating alph... OMIM:606002
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Urinary incontinence, Bowel incontinence OMIM:616482
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Peripheral Primitive Neuroectodermal Tumor
Back pain, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulating ... ORPHA:370348
Spontaneous Periodic Hypothermia
Fatigue, Ataxia, Tremor, Gait disturbance ORPHA:29822
Tetanus
Rigors, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary ... ORPHA:3299
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Athetosis, Hypertonia, Dys... ORPHA:52503
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, Weight loss ORPHA:86893
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urin... ORPHA:276621
Parkinson Disease 20, Early-Onset
Fatigue, Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gai... OMIM:615530
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Classic Hodgkin Lymphoma
Fatigue, Ataxia, Bone pain, Weight loss, Chest pain ORPHA:391
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pain, Paralysis, Hyperm... ORPHA:358
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Childhood Absence Epilepsy
Limb myoclonus, Urinary incontinence ORPHA:64280
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Jaberi-Elahi Syndrome
Appendicular spasticity, Dandy-Walker malformation, Broad-based gait, Tremor, Inability to walk, ... OMIM:617988
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Spastic tetraparesis, Thick... OMIM:619487
Fatal Familial Insomnia
Urinary retention, Myoclonus, Ataxia, Weight loss OMIM:600072
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hypogonadotropic hypogonadism, Abdominal pain, Increased circulating ferritin concentrat... ORPHA:465508
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatin... OMIM:615356
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Dysmetria, Primary amenorrhea, Progressive cerebellar ataxia, Dysdiadochokinesis, Myalgia... ORPHA:502423
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Renal agenesis, Ataxia, Hypogonadotropic hypogonadism, Tremor, ... ORPHA:478
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,... ORPHA:767
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:620327
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Tremor,... ORPHA:3008
Holocarboxylase Synthetase Deficiency
Organic aciduria, Ataxia, Hyperammonemia, Weight loss ORPHA:79242
Pfapa Syndrome
Fatigue, Arthralgia, Weight loss, Abdominal pain ORPHA:42642
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Weight loss, Arthralgia, Abnormality of extr... ORPHA:354
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Abdominal pain, Weight l... ORPHA:298
Follicular Lymphoma
Fatigue, Night sweats, Weight loss ORPHA:545
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Renal Nutcracker Syndrome
Fatigue, Dyspareunia, Proteinuria, Dysmenorrhea, Abdominal pain, Flank pain, Weight loss, Hematur... ORPHA:71273
Pleural Mesothelioma
Constitutional symptom, Chest pain, Weight loss ORPHA:50251
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Ataxia, ... OMIM:212065
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence OMIM:243000
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Chronic fatigue, Renal salt wasting, Cryptorchi... ORPHA:361
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Lower limb spasticity, Bilateral fetal pyelectasis, Large for gesta... OMIM:300868
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Exercise intolerance, Cerebellar atrophy, Ataxia, Lacticaciduria, Tubulointerst... OMIM:124000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urin... ORPHA:29072
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Parkinsonism, Apraxia OMIM:607485
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdominal pain,... ORPHA:54251
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ketonuria, Hypospadias, Small for gestational age, Ataxia, Tremor, ... OMIM:220111
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Renal cyst, Gliosis, Increased circulating very long-chain fatty acid concent... OMIM:261515
Thymic Carcinoma
Fatigue, Chest pain, Diaphragmatic paralysis, Weight loss ORPHA:99868
Familial Colorectal Cancer Type X
Fatigue, Renal neoplasm, Glioblastoma multiforme, Abdominal pain, Abnormal circulating creatine c... ORPHA:440437
Mulibrey Nanism
Cachexia ORPHA:2576
Polymyositis
Fatigue, Elevated circulating creatine kinase concentration, Abdominal pain, Weight loss, Arthral... ORPHA:732
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... ORPHA:79102
Leishmaniasis
Fatigue, Night sweats, Weight loss, Arthralgia, Hypoalbuminemia ORPHA:507
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Ataxia, Tremor, Exercise-induced myalgia, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Camptobrachydactyly
Urinary incontinence OMIM:114150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Broad-based gait, Hypospadias, Small for gestational age, Uni... ORPHA:268261
Ataxia-Telangiectasia
Ataxia, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabil... OMIM:208900
Cryptogenic Organizing Pneumonia
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Arthra... ORPHA:1302
Immunodeficiency 27A
Night sweats, Hypoalbuminemia, Weight loss OMIM:209950
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Rett Syndrome
Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity OMIM:312750
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity OMIM:618186
Young-Onset Parkinson Disease
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Gait imbalanc... ORPHA:2828
Hyperlysinemia
Failure to thrive, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argini... ORPHA:2203
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi... ORPHA:217260
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Tremor, Cryptorchidism, Gliosis, Dystonia, Ureteropelvi... ORPHA:506358
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Takayasu Arteritis
Fatigue, Weight loss, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:3287
Whipple Disease
Hyponatremia, Fatigue, Ataxia, Cachexia, Abdominal pain, Abnormal pyramidal sign, Chest pain, Art... ORPHA:3452
Adnp Syndrome
Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Truncal obesity, Hypert... ORPHA:404448
Split Cord Malformation
Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct... ORPHA:573278
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Gait disturbance, Proteinuria, Cachexia ORPHA:2774
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic s... ORPHA:2239
Mast Cell Sarcoma
Fatigue, Weight loss ORPHA:66661
Solitary Fibrous Tumor
Fatigue, Low back pain, Reduced C-peptide level, Night sweats, Weight loss, Urinary retention, Hy... ORPHA:2126
Liposarcoma
Fatigue, Weight loss, Abnormality of the kidney, Abdominal pain ORPHA:69078
Celiac Disease, Susceptibility To, 1
Ataxia, Abdominal pain, Weight loss, Arthralgia, Hypocalcemia, Infertility, Failure to thrive OMIM:212750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Periodic paralysis, Weight loss OMIM:188580
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Lynch Syndrome
Fatigue, Glioblastoma multiforme, Abdominal pain, Hemiplegia/hemiparesis, Abnormal pyramidal sign... ORPHA:144
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Abdominal pain ORPHA:388
Refractory Celiac Disease
Abdominal pain, Hypomagnesemia, Weight loss, Arthralgia, Hypoalbuminemia, Hypocalcemia, Hypophosp... ORPHA:398063
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicu... ORPHA:85293
Tsh-Secreting Pituitary Adenoma
Fatigue, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality... ORPHA:91347
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Urinary incontinence, Clonus, Hypertonia, Myoclonic spasms ORPHA:447997
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Hemiplegia/hemiparesis... ORPHA:183
Majeed Syndrome
Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Bone pain, Weight loss, Arthralgia, Mya... ORPHA:77297
Acute Adrenal Insufficiency
Hyponatremia, Fatigue, Renal insufficiency, Decreased female libido, Hypercalcemia, Renal salt wa... ORPHA:95409
Systemic Capillary Leak Syndrome
Fatigue, Renal insufficiency, Abdominal pain, Oliguria, Weight loss, Myalgia, Constitutional symp... ORPHA:188
Ménétrier Disease
Abdominal pain, Weight loss, Asthenia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Erdheim-Chester Disease
Fatigue, Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Abdominal pain, Abn... ORPHA:35687
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Cerebellar atrophy, Resting tremor, Ataxia, Elevated circulating c... ORPHA:254892
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight los... OMIM:607459
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Yao Syndrome
Abdominal pain, Nephrolithiasis, Weight loss, Chest pain, Arthralgia, Myalgia OMIM:617321
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Hypogonadism, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Arthralgia, Ast... ORPHA:2902
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Hyperammonemia, Weight loss, Body odor, Hyperuricemia, Extrapyramidal dyskines... ORPHA:134
Glossopharyngeal Neuralgia
Episodic pain, Ear pain, Vocal cord paralysis, Weight loss, Chiari type I malformation, Tongue pa... ORPHA:221098
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Small for gestational age, Ataxia, Tremor, Cryptorchidism, Hyperammonemia, 3-Methylg... OMIM:614052
Rheumatoid Arthritis
Fatigue, Arthralgia, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Renpenning Syndrome
Hypospadias, Decreased testicular size, Cachexia ORPHA:3242
Pseudomyxoma Peritonei
Weight loss, Abdominal pain ORPHA:26790
Eosinophilic Fasciitis
Fatigue, Arthralgia, Myalgia, Weight loss ORPHA:3165
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Bowel incontinence, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss, Abdominal pain OMIM:266600
Inflammatory Bowel Disease 11
Weight loss, Abdominal pain OMIM:191390
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Dysg... ORPHA:8
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes... OMIM:619522
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Decreased serum zinc, Hypogonadism, Failure to thrive, Decreased testicular size OMIM:201100
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Abdominal pain ORPHA:2070
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Al Amyloidosis
Fatigue, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnorma... ORPHA:85443
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Weight loss, Cachexia, Abdominal pain ORPHA:83469
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... ORPHA:171876
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Adrenocortical Carcinoma
Increased urinary cortisol level, Abdominal pain, Abnormality of reproductive system physiology, ... ORPHA:1501
Igg4-Related Aortitis
Low back pain, Elevated circulating C-reactive protein concentration, Abdominal pain, Weight loss... ORPHA:449400
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Poor coordination, H... OMIM:610965
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Glutaryl-Coa Dehydrogenase Deficiency
Exercise intolerance, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chore... ORPHA:25
Inflammatory Pseudotumor Of The Liver
Weight loss, Asthenia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain ORPHA:90003
Acute Promyelocytic Leukemia
Fatigue, Metrorrhagia, Abdominal pain, Bone pain, Weight loss, Hematuria, Gangrene ORPHA:520
Flynn-Aird Syndrome
Ataxia, Cachexia ORPHA:2047
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... OMIM:613179
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Cryptorchidism, Obesity, Enuresis nocturna, Truncal obesity, ... OMIM:615873
Anaplastic Thyroid Carcinoma
Pain, Vocal cord paralysis, Weight loss ORPHA:142
Late-Onset Isolated Acth Deficiency
Hyponatremia, Fatigue, Premature ovarian insufficiency, Hypercalcemia, Abdominal pain, Hyperkalem... ORPHA:199299
X-Linked Agammaglobulinemia
Fatigue, Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Weight loss, Abdominal pain ORPHA:65682
Diffuse Alveolar Hemorrhage
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Chest pain ORPHA:90060
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Ketonuria, Ataxia, Spastic hemiparesis, Hyperammonemia, Weight loss, 3-Methylglutaric ac... ORPHA:20
Giant Cell Arteritis
Fatigue, Renal insufficiency, Ataxia, Sudden cardiac death, Abdominal pain, Weight loss, Hematuri... ORPHA:397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for g... OMIM:614080
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss, Abdominal pain ORPHA:654
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Idiopathic Bronchiectasis
Halitosis, Chest pain, Cachexia ORPHA:60033
Addison Disease
Hyponatremia, Fatigue, Premature ovarian insufficiency, Primary testicular failure, Hypercalcemia... ORPHA:85138
Riddle Syndrome
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Weight loss, Enures... ORPHA:420741
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... OMIM:176450
Osteosarcoma
Pain, Weight loss ORPHA:668
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... ORPHA:206436
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Urinary incontinence, Chiari type I malformation, Vesicoureteral re... ORPHA:261537
Aggressive Systemic Mastocytosis
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Abdominal cramps, Constitutional sym... ORPHA:98850
Multiple Myeloma
Fatigue, Hypercalcemia, Bone pain, Elevated circulating creatinine concentration, Abnormality of ... ORPHA:29073
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Bone pain, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Pulmonary Non-Tuberculous Mycobacterial Infection
Chest pain, Asthenia, Weight loss ORPHA:411703
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropen... ORPHA:2152
Cap Polyposis
Weight loss, Abdominal pain ORPHA:160148
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Micropenis, Failure to thrive, Gliosis OMIM:617403
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Chronic Beryllium Disease
Fatigue, Weight loss ORPHA:133
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Osteootohepatoenteric Syndrome
Proteinuria, Abdominal pain, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased ... OMIM:619377
Kaposi Sarcoma
Fatigue, Weight loss ORPHA:33276
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... OMIM:277900
Primary Intestinal Lymphangiectasia
Abdominal pain, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Alveolar Echinococcosis
Fatigue, Low back pain, Ataxia, Abdominal pain, Renal cyst, Weight loss, Hemiparesis, Chest pain,... ORPHA:284
Malignant Peritoneal Mesothelioma
Weight loss, Abdominal pain ORPHA:168811
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hyperamm... OMIM:251100
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cystic Echinococcosis
Fatigue, Abnormality of the testis size, Renal cyst, Weight loss, Membranous nephropathy, Hyperbi... ORPHA:400
Oculopharyngodistal Myopathy 1
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Difficulty walking OMIM:164310
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Abdominal pain, Weight loss, Elevated ... OMIM:603041
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Stevens-Johnson Syndrome
Fatigue, Dyspareunia, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnorma... ORPHA:36426
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Urinary incontinence, Chiari type I malformation, Vesicoureteral re... ORPHA:261552
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Fatigue, Intraalveolar phospholipid accumulation, Wei... ORPHA:747
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Difficulty walking OMIM:619482
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia ORPHA:48
Castleman Disease
Fatigue, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdominal pa... ORPHA:160
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Simple Cryoglobulinemia
Fatigue, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality ... ORPHA:91139
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Abnormality of the ... ORPHA:813
Deafness-Lymphedema-Leukemia Syndrome
Fatigue, Weight loss ORPHA:3226
Secondary Short Bowel Syndrome
Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss ORPHA:95427
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Parathyroid Carcinoma
Fatigue, Renal insufficiency, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Bone pain, Nep... ORPHA:143
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chest pain, Hypercalcemia, Weight loss ORPHA:97289
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... ORPHA:64
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Gliosis OMIM:618846
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Increased circulating ferritin c... OMIM:615846
Cronkhite-Canada Syndrome
Fatigue, Cachexia, Abdominal pain ORPHA:2930
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exercise intolerance, Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, ... OMIM:616539
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Acute Monoblastic/Monocytic Leukemia
Fatigue, Oliguria, Weight loss ORPHA:514
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Spastic tetraplegia, Cachexia ORPHA:371364
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Granulomatosis With Polyangiitis
Fatigue, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulatin... ORPHA:900
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Weight los... ORPHA:99885
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence OMIM:619934
Primary Hepatic Neuroendocrine Carcinoma
Chronic fatigue, Elevated circulating alpha-fetoprotein concentration, Night sweats, Episodic abd... ORPHA:100085
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Chest pain, Weight loss ORPHA:79127
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... ORPHA:1018
Insulin-Resistance Syndrome Type B
Fatigue, Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circulating fat... ORPHA:2298
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Hypospadias, Cachexia ORPHA:217346
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Loeffler Endocarditis
Fatigue, Chest pain, Weight loss ORPHA:75566
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hypogonadotropic hypogonadism, Renal salt wasting, Abnormality of the menstrual cyc... ORPHA:90794
Juvenile Dermatomyositis
Calcinosis, Fatigue, Elevated circulating creatine kinase concentration, Elevated circulating C-r... ORPHA:93672
Nodular Non-Suppurative Panniculitis
Weight loss, Arthralgia, Myalgia, Abdominal pain ORPHA:33577
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Tremor, Elevated circulating creatinine concentration, In... OMIM:274150
Postinfectious Vasculitis
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... ORPHA:48435
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Abdominal pain, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Obesity, Weight loss ORPHA:251071
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills, Weight loss ORPHA:86884
Poems Syndrome
Fatigue, Weight loss, Hypogonadism, Erectile dysfunction, Pain ORPHA:2905
Pulmonary Alveolar Microlithiasis
Fatigue, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Decreased fertility... ORPHA:60025
Bullous Pemphigoid
Weight loss ORPHA:703
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce... OMIM:613673
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Behçet Disease
Fatigue, Glomerulopathy, Renal insufficiency, Ataxia, Abdominal pain, Orchitis, Abnormal pyramida... ORPHA:117
Felty Syndrome
Recurrent urinary tract infections, Arthralgia, Weight loss ORPHA:47612
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Chest pain, Hypoalbuminemia, Abdominal pain ORPHA:67
Scorpion Envenomation
Pain, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia, Abdomin... ORPHA:466677
Tetrasomy 12P
Cachexia ORPHA:884
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Pyomyositis
Renal insufficiency, Sudden cardiac death, Weight loss, Myalgia, Testicular teratoma ORPHA:764
Primary Myelofibrosis
Fatigue, Flank pain, Constitutional symptom, Cachexia ORPHA:824
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss ORPHA:139402
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Small for gestational age, Hyperg... OMIM:227650
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abdominal pain, Hyperkalemia, A... ORPHA:275761
Caroli Disease
Abdominal pain, Conjugated hyperbilirubinemia, Abdominal rigidity, Weight loss, Polycystic kidney... ORPHA:53035
Thymoma
Glomerulonephritis, Night sweats, Weight loss, Chest pain, Myalgia ORPHA:99867
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... ORPHA:800
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Malignant Atrophic Papulosis
Fatigue, Abdominal pain, Weight loss, Chest pain, Abnormality of the lower urinary tract ORPHA:679
Toxic Epidermal Necrolysis
Fatigue, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnormality of the u... ORPHA:537
Brucellosis
Fatigue, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein c... ORPHA:1304
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Flank pain, Renal interstitial edema, Ster... ORPHA:91500
Lymphoid Interstitial Pneumonia
Fatigue, Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Hermansky-Pudlak Syndrome
Fatigue, Renal insufficiency, Menometrorrhagia, Abdominal pain, Weight loss ORPHA:79430
Klatskin Tumor
Fatigue, Weight loss, Abdominal pain ORPHA:99978
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph... ORPHA:37042
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Bronchial Neuroendocrine Tumor
Chest pain, Night sweats, Weight loss ORPHA:97287
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Pemphigus Vulgaris
Weight loss ORPHA:704
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Abdominal pain, Bone pain, Weight loss, Arthralgia, Myalgia ORPHA:98849
Pancreatoblastoma
Weight loss, Elevated maternal serum alpha-fetoprotein, Abdominal pain ORPHA:677
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Short Syndrome
Weight loss ORPHA:3163
Polycythemia Vera
Fatigue, Arthralgia, Weight loss, Abdominal pain ORPHA:729
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Bone pain, Urinary retention, Hypogonadism, Slender build ORPHA:1328
Neuroendocrine Tumor Of The Colon
Weight loss, Abdominal pain ORPHA:100080
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Wolman Disease
Cachexia ORPHA:75233
Trisomy 18
Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Hypertonia, Chiari malformation... ORPHA:3380
Budd-Chiari Syndrome
Weight loss, Abdominal pain ORPHA:131
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Abdominal pain, Ependymoma, Nephrolithiasis, Hypercalciuria, Weight loss, Impotenc... ORPHA:652
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... ORPHA:251510
Granulomatosis With Polyangiitis
Fatigue, Weight loss, Asthenia, Myalgia, Gangrene OMIM:608710
Pneumocystosis
Weight loss ORPHA:723
Neuroendocrine Tumor Of The Rectum
Weight loss, Abdominal pain ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Abdominal pain ORPHA:100082
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Microsporidiosis
Cachexia, Abdominal pain, Prostatitis, Urethritis, Weight loss, Abnormality of the urinary system... ORPHA:2552
Kikuchi-Fujimoto Disease
Fatigue, Ataxia, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss... ORPHA:50918
Q Fever
Fatigue, Night sweats, Weight loss, Hematuria, Myalgia ORPHA:781
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral cryptorchidism... ORPHA:1772
Carney-Stratakis Syndrome
Weight loss, Abdominal pain ORPHA:97286
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... ORPHA:125
Rat-Bite Fever
Back pain, Rigors, Weight loss, Arthralgia, Myalgia, Chills ORPHA:31205
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Familial Pancreatic Carcinoma
Back pain, Weight loss, Chronic fatigue, Abdominal pain ORPHA:1333
Gallbladder Neuroendocrine Tumor
Weight loss, Chronic fatigue, Episodic abdominal pain ORPHA:100086
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia, Hypertonia, ... ORPHA:2072
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Goodpasture Syndrome
Fatigue, Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria... OMIM:233450
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Nijmegen Breakage Syndrome
Pollakisuria, Glioma, Cachexia ORPHA:647
Primary Sclerosing Cholangitis
Fatigue, Renal insufficiency, Abdominal pain, Weight loss, Hypoalbuminemia ORPHA:171
Familial Thrombocytosis
Chest pain, Weight loss ORPHA:71493
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Neuroendocrine Tumor Of Stomach
Weight loss, Episodic abdominal pain ORPHA:100075
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Elevated circulating C-reactive protein concentration, Abdominal pain OMIM:301074
Vipoma
Chronic fatigue, Hypercalcemia, Weight loss, Episodic abdominal pain, Hypokalemia ORPHA:97282
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Weight loss, Abdominal pain ORPHA:309031
Reactive Arthritis
Weight loss, Recurrent urinary tract infections, Arthralgia, Abdominal pain ORPHA:29207
Ileal Neuroendocrine Tumor
Weight loss, Chronic fatigue, Hydronephrosis, Episodic abdominal pain ORPHA:100078
Malt Lymphoma
Fatigue, Weight loss, Abdominal pain ORPHA:52417
Somatostatinoma
Weight loss, Chronic fatigue, Hypercalcemia, Episodic abdominal pain ORPHA:97283
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss, Hypercalcemia, Episodic abdominal pain ORPHA:913
Tropical Pancreatitis
Epigastric pain, Weight loss ORPHA:103918
Ppoma
Weight loss, Hypercalcemia, Episodic abdominal pain ORPHA:97278
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Arthralgia, Myalgia, Weight loss ORPHA:85408
Glucagonoma
Weight loss, Chronic fatigue, Hypercalcemia, Episodic abdominal pain ORPHA:97280
Immunodeficiency 31C
Fatigue, Weight loss OMIM:614162
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Hip pain, Weight loss, Shuffling gait, Severe failure to thrive, Delayed men... ORPHA:740
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Cachexia, Abdominal pain ORPHA:79076
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Failure to thrive, Weight loss ORPHA:2020
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Secondary amenorrhea, Weight loss, Trunc... ORPHA:99889
Nocardiosis
Fatigue, Ocular pain, Night sweats, Weight loss, Chest pain, Chills ORPHA:31204
Grfoma
Weight loss, Hypercalcemia, Episodic abdominal pain ORPHA:97261
Dermatomyositis
Fatigue, Weight loss, Arthralgia, Myalgia, Gangrene ORPHA:221
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Chronic Graft Versus Host Disease
Phimosis, Abdominal pain, Urinary bladder inflammation, Weight loss, Hematuria, Chest pain, Arthr... ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Abdominal pain, Weight loss, Hypoalbuminem... OMIM:619381
Norrie Disease
Clonus, Cachexia, Cryptorchidism, Hypertonia, Erectile dysfunction, Aplasia/Hypoplasia of the cer... ORPHA:649
Sarcoidosis
Fatigue, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephro... ORPHA:797
Seckel Syndrome
Cachexia ORPHA:808
Cystic Fibrosis
Male infertility, Failure to thrive, Hypercalciuria OMIM:219700
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue, Tubulointerstitial nephritis, Weight loss ORPHA:79078
Marfan Syndrome
Arthralgia/arthritis, Chronic fatigue, Cachexia, Myalgia, Slender build ORPHA:558
Sarcoidosis, Susceptibility To, 1
Chest pain, Hypercalciuria, Weight loss OMIM:181000
Stickler Syndrome
Cachexia, Hemiplegia/hemiparesis, Bone pain, Arthralgia, Slender build ORPHA:828
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Proteus Syndrome
Cachexia, Testicular neoplasm, Sudden cardiac death, Long penis, Renal cyst, Macroorchidism ORPHA:744
Tropical Endomyocardial Fibrosis
Fatigue, Hypoalbuminemia, Cachexia ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pi4k2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pi4k2a.

No publications found that use IMPC mice or data for Pi4k2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pi4k2atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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