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Gene: Selenop MGI:894288

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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:
selenoprotein P
Synonyms:
D15Ucla1,  Se-P,  Sepp1,  selp

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 Selenop 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 Selenop by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
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 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
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
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
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
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
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
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
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
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Limb ataxia, Gait ataxia, Distal sensory impairment, Hepat... OMIM:616719
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Feeding difficulties, Decreased liver functi... OMIM:246900
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Decreased liver function, Difficulty walking, Gait ataxia ORPHA:512260
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Confusion, Protein avoidance, Dysmetria, Dysdiadochok... OMIM:238970
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Ataxia, Progressive neurologic deteriorati... ORPHA:70472
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Reduce... ORPHA:320391
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Ataxia, Chronic di... OMIM:613489
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Spasticity, Aggressive behavior OMIM:615493
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Recurrent infectio... OMIM:301045
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity OMIM:615768
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Sepsis, Cholestasis, Decreas... ORPHA:570422
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Somatic sensory dysfunction, Gait ataxia, Hepatosplenomegaly, Progressive ... ORPHA:466794
Peroxisome Biogenesis Disorder 8B
Ataxia, Dysesthesia, Unsteady gait, Dysmetria, Gait ataxia, Tip-toe gait, Constipation, Decreased... OMIM:614877
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Peroxisome Biogenesis Disorder 5B
Unsteady gait, Ataxia, Decreased liver function, Dysmetria OMIM:614867
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Dysphagia OMIM:615945
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Ataxia, Unsteady gait, Impaired distal vibration sensation, Limb at... OMIM:614871
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Progressive neurologic deterioration, Dysmetria, Gait ataxia, Progressive ... ORPHA:254881
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio... OMIM:613280
Congenital Disorder Of Glycosylation, Type Ir
Chronic constipation, Gastroesophageal reflux, Decreased liver function, Recurrent ear infections OMIM:614507
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Cog4-Cdg
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Ataxia, Recurrent... ORPHA:263501
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... OMIM:613724
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Feeding difficulties, Vomiting, Lethargy, He... ORPHA:2394
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati... OMIM:618549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Diarrhea, Abnormal lactate dehydrogenase lev... ORPHA:42
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Increased serum iron, Hepatic fibrosis, Cirrhosis, Prolonge... OMIM:231100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy OMIM:313200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... OMIM:615924
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai... ORPHA:251282
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Inability to walk, Gait ataxia, Feeding difficulties, Constipat... OMIM:618606
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function OMIM:614870
Babesiosis
Nausea and vomiting, Hepatomegaly, Confusion, Anorexia, Recurrent pharyngitis, Jaundice, Recurren... ORPHA:108
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Parkinsonism, Anorexia, Aggressive behavior... ORPHA:3077
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... ORPHA:100973
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... OMIM:616278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Confusion, Protein avo... ORPHA:415
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Citrullinemia Type I
Ataxia, Feeding difficulties, Vomiting, Gastroesophageal reflux, Lethargy, Hepatic failure ORPHA:247525
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Copper... OMIM:616828
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia, ... OMIM:301107
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Cryptorchidism, Hemiparesi... OMIM:604317
Cog2-Cdg
Psychomotor deterioration, Decreased circulating copper concentration, Decreased liver function ORPHA:435934
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Abnormali... ORPHA:382
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... OMIM:300623
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Ceroid storage disease
Hepatic failure OMIM:214200
Alg1-Cdg
Sepsis, Chronic diarrhea, Decreased liver function, Recurrent infections ORPHA:79327
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... OMIM:256810
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Hartnup Disorder
Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder OMIM:234500
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure ORPHA:75234
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Episodic vomiting, Decreased liver function, Poor suck OMIM:615160
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Self-mutilation, Inappropriate laughter, Aggressive behavior OMIM:616269
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Secondary amenorrhea ORPHA:3375
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di... OMIM:619028
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
3-Methylglutaconic Aciduria Type 4
Decreased liver function ORPHA:67048
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Vomiting, Lethargy OMIM:616483
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Dysphagia, Up... ORPHA:276435
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia OMIM:128235
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... ORPHA:363710
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Decreased liver function OMIM:616299
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:230400
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Abnor... ORPHA:500180
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy ORPHA:156
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Self-injurious... ORPHA:485350
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hepatic failure OMIM:618567
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agita... OMIM:617435
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Delayed menarche, Oculogyric crisis, Dystonia ORPHA:330050
4H Leukodystrophy
Dystonia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysd... ORPHA:289494
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Elevat... OMIM:235555
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Sever... OMIM:308240
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... OMIM:615157
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetri... OMIM:607694
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Tongue th... ORPHA:3095
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Somatic sensory dysfunction, Aggressive behavior, Paralysis, Parap... ORPHA:43
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, BCGosis, Recurrent pneumonia,... OMIM:619644
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis, Vomiting OMIM:617872
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Low cholesterol esterification rate, Dyspha... OMIM:257220
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... OMIM:619738
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Feeding difficulties, Decreased liver func... ORPHA:79321
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Decreased liver function OMIM:614883
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:227510
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inability to walk, Reye syndrome-like episodes, Feed... ORPHA:26791
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties OMIM:609060
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Vomiting, Diffuse hepatic steat... ORPHA:436271
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hepatitis, Cirrhosi... ORPHA:905
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive manneris... OMIM:618718
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Jaundice, Biliary cirrhosis, Choles... OMIM:617394
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Nausea and vomiting, Fatal liver failure in infancy, Psychomotor d... ORPHA:275761
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... ORPHA:469
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... ORPHA:228402
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia OMIM:617916
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Patent ductus arteriosus, Diarrhea, Cholestasis, Vomiting, De... OMIM:608104
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Recurrent infections, Feeding dif... ORPHA:541423
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,... ORPHA:79263
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Decreased liver function, Lethargy, Hepatic steatosis OMIM:614922
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Diarrhea, Hepatosplen... ORPHA:98850
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Hypogonadism, Myoclonus, Dysphagia ORPHA:97229
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... ORPHA:240085
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Recur... ORPHA:1667
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Abnormality of pain sen... ORPHA:544254
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Portal hypertensio... ORPHA:79124
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Hypogonadis... OMIM:300354
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ataxia, Decreased liver function, Gait disturbance OMIM:614863
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hepatosplenomegaly, Persistent EBV viremia, Hepatocellular carcino... ORPHA:158057
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait... OMIM:614381
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... OMIM:613070
Exercise-Induced Malignant Hyperthermia
Ataxia, Confusion, Hyperkalemia, Hyperphosphatemia, Vomiting, Decreased liver function, Hypocalce... ORPHA:466650
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Hyperkinetic movements, Upper limb spasticity, Micropenis, Abnormal repe... ORPHA:457240
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Dysphagia, Loss of ambulation, Hepatic failure, Episodic vomiting OMIM:607426
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Jaundice, Cholestasis, Elevated... ORPHA:30391
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysp... OMIM:261640
Myoclonic Epilepsy Of Lafora
Hepatic failure, Gait disturbance, Progressive neurologic deterioration, Dementia OMIM:254780
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait, ... OMIM:616795
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Azoospermia,... ORPHA:10
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Decreased liver function, Truncal ataxia, Increased hepatocellular lipid dr... OMIM:220110
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abdominal distention... ORPHA:2088
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Confusion, Feeding difficulties in infancy,... ORPHA:71212
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoos... ORPHA:8
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Disseminated viral infection, Abdominal distention, Jaundice, Seve... ORPHA:90051
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Poor gross m... ORPHA:228360
Tonne-Kalscheuer Syndrome
Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Spasticity, Self-injurious behavior, Dy... OMIM:300978
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, ... ORPHA:2828
Mitochondrial Trifunctional Protein Deficiency
Feeding difficulties in infancy, Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hepatic steatos... ORPHA:746
Transaldolase Deficiency
Hepatomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibro... OMIM:606003
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Jaundice, Hepatosplenomegaly, Abnormality of the liver, D... ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure ORPHA:261519
Primary Biliary Cholangitis
Portal hypertension, Abdominal distention, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestin... ORPHA:186
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Decreased liver function OMIM:602199
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Progressive neurologic deterioration, Feeding difficulties, Bile d... OMIM:618329
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertonia ORPHA:1192
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Ornithine Transcarbamylase Deficiency
Hepatic failure ORPHA:664
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts OMIM:600666
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestatic liver disease, Colitis, Decrea... ORPHA:540
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Jaundice, Decreased liver ... OMIM:251290
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Sepsis, Cholelithiasis, Hepatic failure,... OMIM:614886
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Elevated transferrin satur... ORPHA:465508
Wolman Disease
Nausea and vomiting, Hepatomegaly, Abdominal distention, Malnutrition, Hepatic failure ORPHA:75233
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Alveolar Echinococcosis
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Abdominal pain, Jaundice, Biliary cirrho... ORPHA:284
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Ataxia ORPHA:391417
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:617049
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia ORPHA:2724
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cholestasis OMIM:615630
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:608779
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... ORPHA:567983
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly OMIM:232500
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Feeding difficulties in... ORPHA:1454
Giant Cell Arteritis
Ataxia, Anorexia, Abdominal pain, Recurrent pharyngitis, Gastrointestinal infarctions, Paresthesi... ORPHA:397
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Anorexia, Abnormality of the menstrual cycl... ORPHA:330015
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Reduced carnitine O-palmito... ORPHA:228305
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Ataxia, Progressive neurologic deteriorati... ORPHA:506
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Lafora Disease
Ataxia, Confusion, Inability to walk, Dementia, Gait disturbance, Mental deterioration, Hepatic f... ORPHA:501
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Abdominal distention, ... OMIM:617156
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cholestasis, Hepati... OMIM:618641
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Hyperkinetic movements, Microphallus, Spasticity OMIM:300957
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure OMIM:602579
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Jaundice, Cholestasis, Sclerosing cholangitis, Bile duct proli... OMIM:607626
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy ORPHA:159
Behr Syndrome
Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Progressive spasticity, Dysphagia, Freq... OMIM:210000
Acquired Purpura Fulminans
Hepatic failure, Sepsis ORPHA:49566
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Serotonin Syndrome
Confusion, Diarrhea, Mental deterioration, Delirium, Hepatic failure, Nausea ORPHA:43116
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Microvesicular hepati... OMIM:203700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Decreased liver function OMIM:617021
Spinocerebellar Ataxia Type 27
Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia ORPHA:98764
Shigellosis
Hyponatremia, Anorexia, Abdominal pain, Sepsis, Cholestasis, Bloody diarrhea, Paralytic ileus, Bl... ORPHA:810
Congenital Enterovirus Infection
Sepsis, Hepatitis, Cholestasis, Hepatic failure, Meningitis, Infectious encephalitis ORPHA:292
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Dia... ORPHA:85450
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent otitis media, Recurrent respiratory infections, Hepatic failure, Feeding difficulties OMIM:619758
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Poor appetite, Anorexia, Bowel ... ORPHA:100075
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... ORPHA:52368
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Cholestasis, Abnormality of the liver, Hepatic failure ORPHA:398124
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Atax... OMIM:124000
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Progressive neurologic deterioration, Low cholesterol esterification rate, ... ORPHA:646
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impotence, Positiv... OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Spasticity, Gait ataxia, Microphallus, Micropenis, ... OMIM:300486
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... ORPHA:240071
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Progressive neurologic deterioration, Hepatosplenomegaly, Dysphagia, Hepa... OMIM:608013
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Hoffmann sign, Limb myoclonus... ORPHA:139396
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Progressive neurologic deterioration, Elevated hepatic transaminase OMIM:615453
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Zellweger Syndrome
Hepatomegaly, Feeding difficulties in infancy, Jaundice, Cognitive impairment, Hepatic failure ORPHA:912
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Patent ductus arteriosus, Chronic diarrhea, Recurrent infections, Feeding difficult... OMIM:618268
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... OMIM:137440
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti... OMIM:609727
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Cryptorchidism, Hypertonia, Aggressive behavior OMIM:608093
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypomagnesemia, Severe infection, Chronic di... ORPHA:699
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Chronic diarrhea, Macronodular cirrhosis, ... OMIM:557000
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dystonia OMIM:168605
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy... OMIM:231530
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg... OMIM:312080
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Increased serum zinc, Hepatosplenomegaly, ... ORPHA:470
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Precocious pub... ORPHA:163681
Tarp Syndrome
Athetosis, Hepatic failure OMIM:311900
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function OMIM:618835
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Dysphagia, Hepa... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function OMIM:618839
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata... ORPHA:171
Trichohepatoenteric Syndrome 1
Hepatomegaly, Jaundice, Cholestasis, Increased serum iron, Hepatic fibrosis, Cirrhosis, Cognitive... OMIM:222470
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... ORPHA:478
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Limb hypertonia OMIM:620327
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hepatitis, Hepatosplenomegaly, Recurrent... ORPHA:228426
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Decreased circulating copper concentrat... ORPHA:48818
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... OMIM:613658
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hepatic failure, Abdominal distention OMIM:235255
Bronchial Neuroendocrine Tumor
Hepatomegaly, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure ORPHA:97287
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Micronodular cirrhosis, Truncal ataxia, Hepatic failure OMIM:301072
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ... OMIM:606002
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Primary amenorrhea, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadoch... OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Feeding difficulties in infancy, Hepatic failure OMIM:619355
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Ataxia, Aggressive behavior, Tremor, Tongue thrusti... ORPHA:72
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mitochondrial swelling, Vocal cord paralysis, Dysphagia ORPHA:397744
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Ataxia, Neoplasm of the liver, Decreased liver function, Cirrhosis, Attention defic... ORPHA:77293
Wolfram Syndrome 1
Tremor, Testicular atrophy, Ataxia, Dysphagia OMIM:222300
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence OMIM:146500
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Increased circulating lactate dehydrogenase concentration, Hepatic steatos... ORPHA:99901
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Infectious encephalitis, Hepatitis, Elevated hepatic transaminase ORPHA:139402
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abdominal distention, Hepatosplenomegaly, Hypocalcemia, Hepatic failure ORPHA:1655
Brain-Lung-Thyroid Syndrome
Hyperactivity, Dystonia, Hypospadias, Ataxia, Incoordination, Abnormal eating behavior, Involunta... ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... ORPHA:100078
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Feeding difficulties in infancy, Vomiting, Lethargy, Hepatic failure OMIM:252010
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Blepharospasm, Bradykinesia, Dysphagia ORPHA:683
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Renal tubular epithelial necrosis, Hepatic calcification, Episodic abdominal pain, ... ORPHA:157
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Precocious puberty, Tremor, Dysmetria, Cl... ORPHA:845
Liver Disease, Severe Congenital
Biliary hyperplasia, Sepsis, Vomiting, Hypocalcemia, Elevated hepatic iron concentration, Hepatic... OMIM:619991
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:168600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal tubular epithelial necrosis, Hepatic calcification, Feeding difficulties, Red... ORPHA:228308
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... ORPHA:240094
Stevens-Johnson Syndrome
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Nausea an... ORPHA:36426
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Ataxia-Telangiectasia
Female hypogonadism, Ataxia, Tremor, Slurred speech, Abnormal spermatogenesis, Choreoathetosis, P... OMIM:208900
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hepatic failure, Hypocalcemia, Hepatosplenomegaly OMIM:259720
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Nausea an... ORPHA:537
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis OMIM:613239
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Fumarase Deficiency
Intrahepatic cholestasis, Necrotizing enterocolitis, Hepatic failure, Decreased fumarate hydratas... OMIM:606812
Choreoacanthocytosis
Impaired vibratory sensation, Hepatomegaly, Bradyphrenia, Short attention span, Elevated circulat... ORPHA:2388
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Hepatic... OMIM:218330
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepat... ORPHA:774
Lathosterolosis
Hepatomegaly, Hepatic failure, Intrahepatic cholestasis ORPHA:46059
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Tremor, ... ORPHA:2131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Portal hypertension OMIM:619431
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dy... OMIM:615530
48,Xxxy Syndrome
Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertility, Abnormal social behavior, Decrea... ORPHA:96263
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hyperphosphatemia, Hyperkalemia ORPHA:423
Focal Dermal Hypoplasia
Acute hepatic failure, Abdominal pain, Patent ductus arteriosus, Gastroesophageal reflux, Cogniti... ORPHA:2092
Dyskeratosis Congenita
Hepatomegaly, Hepatic failure, Recurrent respiratory infections, Cirrhosis ORPHA:1775
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Gas... ORPHA:342
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Hepatomegaly, Confusion, Anorexia, Abdominal pain, Hematemesis, Jaundice, Di... ORPHA:99827
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Alagille Syndrome 1
Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa... OMIM:118450
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia, Hypomagnesemia ORPHA:1578
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia OMIM:616393
Igg4-Related Kidney Disease
Abdominal pain, Sclerosing cholangitis, Cholecystitis, Decreased liver function, Meningitis ORPHA:449395
Sarcoidosis
Hepatomegaly, Hypercalcemia, Portal hypertension, Abnormal liver parenchyma morphology, Decreased... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Broad-based gait, Hair-pulling, Recurrent pneumonia, Constipation, Hypocalcem... OMIM:620330
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Fg Syndrome Type 1
Cryptorchidism, Abnormal social behavior, Slender build ORPHA:93932
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Hair-pulling, Gastroesophageal reflux, Dysphagia, Gastrostomy t... ORPHA:447997
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Chorea, Abnormal social behavior, Progressive gait ataxia ORPHA:309271
Trichotillomania
Hair-pulling OMIM:613229
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Recurrent cystit... ORPHA:64
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnormal social behavior ORPHA:314647
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Hypogonadotropic hypogonadism, Obesity, Impaired social interactions ORPHA:177907
Monosomy 22Q13.3
Nausea and vomiting, Impaired pain sensation, Hair-pulling, Feeding difficulties, Gastroesophagea... ORPHA:48652
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Abnormal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Abnormal ... ORPHA:363958
Mend Syndrome
Cryptorchidism, Failure to thrive, Abnormal social behavior ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Williams Syndrome
Hypogonadotropic hypogonadism, Ataxia, Failure to thrive in infancy, Hypercalcemia, Cryptorchidis... ORPHA:904
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Selenop

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 Selenop.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Selenoptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Selenopem1(IMPC)Ccpcz Intra-exon deletion Mice
Selenoptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Selenoptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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