Not currently registered for phenotyping at IMPC

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

Gene Summary

selenoprotein P
D15Ucla1,  Se-P,  selp,  Sepp1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Dystonia, Feeding difficulties, Decreased liver function, Ataxia, Elevated hepatic ... OMIM:246900
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Infertility, Up... ORPHA:320391
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Hypogonadism, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Lim... OMIM:615768
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Spasticity, Apraxia, Premature ovarian insufficiency OMIM:615889
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Peroxisome Biogenesis Disorder 8B
Dysphagia, Dysmetria, Cognitive impairment, Decreased liver function, Ataxia, Constipation OMIM:614877
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Distal sensory impairment, Ataxia, Hepatic failure, Gait ataxia OMIM:616719
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Decreased liver function, Gait ataxia, Difficulty walking, Broad-based gait ORPHA:512260
Lethargy, Sepsis, Hepatomegaly, Gait disturbance, Gait imbalance, Dystonia, Vomiting, Feeding dif... ORPHA:352
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia OMIM:617018
Congenital Disorder Of Glycosylation, Type Ir
Decreased liver function, Gastroesophageal reflux, Constipation, Recurrent ear infections OMIM:614507
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Chorea, Gastrostomy tube feeding in infancy, Progressive neurologic deterioration, Dec... ORPHA:70472
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Chronic di... OMIM:613489
Classic Galactosemia
Lethargy, Sepsis, Hepatomegaly, Gait disturbance, Gait imbalance, Dystonia, Vomiting, Elevated he... ORPHA:79239
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
Leukoencephalopathy with metaphyseal chondrodysplasia
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Recurrent infections, Micronodular cirrhosis, Decreased liver function, Hepatic ste... OMIM:301045
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Galactose Mutarotase Deficiency
Sepsis, Hepatomegaly, Decreased liver function, Cholestasis, Abnormal enzyme/coenzyme activity ORPHA:570422
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia OMIM:616657
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Dystonia, Myoclonus, Involuntary movements OMIM:611092
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Peroxisome Biogenesis Disorder 5B
Decreased liver function, Ataxia, Dysmetria, Unsteady gait OMIM:614867
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Paresthesia, Progressive cerebellar ataxia, Acute hepatic failure, Hepatospleno... ORPHA:466794
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Steppage gait, Bradykinesia, Cirrhosis, Decreased liver function, Elevate... OMIM:613280
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Lipoyltransferase 1 Deficiency
Decreased liver function, Dystonia, Elevated hepatic transaminase OMIM:616299
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Vomiting, Elevated hepatic transaminase... OMIM:256810
Tremor OMIM:231950
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Feeding difficulties, Gastroesophageal reflux, Elevated hepatic transam... OMIM:616974
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function OMIM:618952
Peroxisome Biogenesis Disorder 7B
Decreased liver function OMIM:614873
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Recurrent otitis media, Recurrent... OMIM:615207
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... OMIM:617633
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Torticollis, Intention tremor, Hypergonadotropic hypogonadism, Head tremor OMIM:613724
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Lethargy ORPHA:254857
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy OMIM:614870
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Cholestasis, Hepatic failure, Elevated ... OMIM:618528
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Limb dy... ORPHA:98762
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Citrullinemia Type I
Vomiting, Torticollis, Feeding difficulties, Ataxia, Hepatic failure, Gastroesophageal reflux, Le... ORPHA:247525
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Vomiting, Feeding difficulties, Ataxia, Hepatic failure, Elevated hepatic transamin... ORPHA:2394
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Acute hepatitis, Decreased liver function, Impaired vibratory se... OMIM:238970
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Vomiting, Decreased liver function, Hepatic steatosis, Ataxia, Abnormal lactate deh... ORPHA:42
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Vomiting, Abdomi... OMIM:613070
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... ORPHA:3000
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... ORPHA:263501
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Immunodeficiency 8
Hyperactivity OMIM:615401
Pontocerebellar Hypoplasia, Type 13
Feeding difficulties, Decreased liver function, Inability to walk, Recurrent respiratory infectio... OMIM:618606
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepatic trans... OMIM:617156
Migraine, Familial Hemiplegic, 1
Tremor, Ataxia, Hemiparesis, Hemiplegia OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hepatic f... OMIM:616278
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Gabriele-De Vries Syndrome
Tremor, Dystonia, Cryptorchidism, Waddling gait OMIM:617557
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Peroxisome Biogenesis Disorder 6B
Decreased liver function, Ataxia, Distal sensory impairment OMIM:614871
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Feeding difficulties OMIM:615597
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Choles... OMIM:616828
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Decreased liver function, Hepatic steatosis, Cholestasis, Elevated hepatic trans... OMIM:614300
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Psychomotor deterioration, Decreased circulating copper concentration, Decreased liver function ORPHA:435934
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... OMIM:611302
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Dystonia, Feeding difficulties, Recurrent infections, Decreased liver function, Abnormal enzyme/c... ORPHA:79321
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Nausea and vomiting, Hepatomegaly, Anorexia, Recurrent infections, Hepatic failure, Recurrent pha... ORPHA:108
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Shuffling gait, Bradykine... OMIM:300055
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Feeding difficulties, Cognitive impairment, Hepatitis, Spastic gait, Protein avoida... ORPHA:415
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Difficulty walking ORPHA:330050
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations, Decreased fertility OMIM:313200
Trisomy X
Tremor, Secondary amenorrhea, Attention deficit hyperactivity disorder ORPHA:3375
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Impaired vibration sensation in the lower limbs, Tremor, Limb ataxia, G... OMIM:610245
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Ceroid storage disease
Hepatic failure OMIM:214200
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Pseudo-Torch Syndrome 2
Hepatomegaly, Patent ductus arteriosus, Decreased liver function, Elevated hepatic transaminase, ... OMIM:617397
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Vomiting, Protuberant abdomen, El... OMIM:278000
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... ORPHA:98763
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Slurred spe... ORPHA:98772
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resting tremor,... OMIM:300623
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Infantile Liver Failure Syndrome 2
Vomiting, Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Lethargy OMIM:616483
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
3-Methylglutaconic Aciduria Type 4
Decreased liver function ORPHA:67048
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... ORPHA:248111
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Cirrhosis, Hepatic failure, Diarrhea, Jaundice ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Vomiting, Hepatic steatosis OMIM:617872
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections ORPHA:79327
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy ORPHA:156
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Poor suck, Decreased liver function, Episodic vomiting OMIM:615160
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Vomiting, Abdominal distention, Patent ductus arteriosus, Decreased liver function,... OMIM:608104
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Patent ductus arteriosus OMIM:617021
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity OMIM:612716
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Bro... ORPHA:3077
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Fulminant hepatitis, Meningitis, Severe Epstein Barr virus... OMIM:308240
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastroin... ORPHA:79319
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Ch├ędiak-Higashi Syndrome
Recurrent bacterial infections, Hyponatremia, Dementia, Gait disturbance, Cognitive impairment, R... ORPHA:167
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Niemann-Pick Disease, Type C1
Hepatomegaly, Dementia, Dysphagia, Dystonia, Fatal liver failure in infancy, Ataxia, Low choleste... OMIM:257220
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
4H Leukodystrophy
Dystonia, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyramidal motor function,... ORPHA:289494
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity ORPHA:100973
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Decreased liver function, Hepatic steatosis, Lethargy OMIM:614922
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Dysmetria, Chorea, Torticollis, Spastic ataxia, Intention ... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, BCGosis, Recurrent lower respiratory tract infections, Intermittent diarrhea, Hepat... OMIM:619644
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hepatic failure OMIM:618567
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity OMIM:609260
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... OMIM:235555
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... OMIM:617145
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Nephronophthisis 15
Hepatic failure OMIM:614845
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Feeding difficulties in infancy, Decreased liver f... OMIM:124000
Hereditary Fructose Intolerance
Lethargy, Hepatomegaly, Vomiting, Nausea, Abdominal distention, Reduced aldolase level, Hypophosp... ORPHA:469
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Wilson Disease
Hepatomegaly, Dementia, Dysphagia, Dystonia, Hepatocellular carcinoma, Cirrhosis, Hepatic failure... OMIM:277900
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... ORPHA:43
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dysphagia, Vomiting, Feeding difficulties, Reye syndrome-like episodes, Decreased l... ORPHA:26791
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Gait disturbance, Vomiting, Diffuse hepatic steatosis, Decreased liver function, At... ORPHA:436271
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Cirrhosis, Hepatic steatosis, Acute hepatic failure, El... ORPHA:905
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine m... ORPHA:79263
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Nausea and vomiting, Hyponatremia, Hepatic fibros... ORPHA:275761
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Elevated hepatic transaminase OMIM:614883
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Hypogonadism, Decreased testicular size, Lethargy OMIM:201100
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Dementia, Hepatomegaly, Vomiting, Bile duct proliferation, Micr... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Feeding difficulties, Cholestasis OMIM:609060
Galactosemia I
Hepatomegaly, Vomiting, Cirrhosis, Decreased liver function, Diarrhea OMIM:230400
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Cirrhosis, Hepatic failure, Elevated hepatic ... OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Hepatocellular necrosis, Vomiting, Depletion of mi... OMIM:251880
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking OMIM:159950
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Leigh Syndrome With Cardiomyopathy
Dystonia, Dysphagia, Chorea, Decreased liver function, Ataxia, Poor suck, Mental deterioration ORPHA:70474
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Tremor, Inability to walk, Somatic sensory dysfun... ORPHA:90117
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:139485
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Diarrhea OMIM:602579
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Hepatic failure OMIM:210050
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Feeding difficulties, Esophagitis, Recurrent infections, ... ORPHA:541423
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Diffic... ORPHA:98764
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Aggressive Systemic Mastocytosis
Portal hypertension, Anorexia, Abdominal cramps, Elevated total serum tryptase, Decreased liver f... ORPHA:98850
48,Xxyy Syndrome
Infertility, Azoospermia, Stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder, H... ORPHA:10
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Feeding difficulties in infancy, Decreased liver function OMIM:618437
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Distal sens... OMIM:302800
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Attention deficit hyperactivity disor... ORPHA:352490
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Spastic gait, Spastic ataxia, Tremor, Atax... OMIM:616795
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Acute hepatic failure OMIM:615453
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, Elevated ... ORPHA:367
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... ORPHA:137898
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Recurrent ear infections, Recurrent viral infections, Chronic ... ORPHA:79124
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... ORPHA:500180
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, ... ORPHA:544254
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Attention deficit hyperactivi... ORPHA:8
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Stereotypy OMIM:609425
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Spinocerebellar Ataxia Type 42
Impaired vibration sensation at ankles, Babinski sign, Spastic gait, Resting tremor, Impotence, H... ORPHA:458803
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Hepatomegaly, Gait disturbance, Ataxia OMIM:614863
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal pyramidal sign, Gait disturbance, Clonus, Dysmetria, Intention ... ORPHA:99027
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hepatosplenomegaly, Increased circulating lactate dehydrogenase concent... ORPHA:158057
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Patent ductus arteriosus, Cirrhosis, Decr... OMIM:606003
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Hepatic failure OMIM:607426
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Myoclonic Epilepsy Of Lafora
Gait disturbance, Dementia, Progressive neurologic deterioration, Hepatic failure OMIM:254780
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Hyperactivity, Micropenis, Cryptorchidism, Attention deficit hyperactivity disorder OMIM:618504
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets OMIM:220110
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Hyperactivity, Dysdiadochok... ORPHA:228360
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... ORPHA:465508
Sepsis In Premature Infants
Hepatomegaly, Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dy... ORPHA:90051
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Recurrent ... ORPHA:186
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Riboflavin Transporter Deficiency
Tremor, Ataxia, Myoclonus, Hypogonadism ORPHA:97229
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Recurrent infections, Abnormality of the liver, Acute hepatic failure... ORPHA:1667
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransferas... ORPHA:158061
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abno... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Tremor, Hypogonadism, Micropenis, Hyperactivity, Cryptorchidism, Gait ataxia, Decrea... OMIM:300354
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Shuffling gait, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnor... ORPHA:352649
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure ORPHA:261519
Mitochondrial Trifunctional Protein Deficiency
Feeding difficulties in infancy, Diffuse hepatic steatosis, Poor suck, Cholestasis, Tip-toe gait,... ORPHA:746
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Vomiting OMIM:602199
Pseudo-Torch Syndrome 1
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Jaundice OMIM:251290
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Impotence, Spasticity OMIM:105210
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Cirrhosis, Intestinal obstruction, Gastrointestinal h... ORPHA:131
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Poor gross motor coordination, Infertility, Reduced sper... ORPHA:330015
Alazami-Yuan Syndrome
Hyperactivity, Cryptorchidism OMIM:617126
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Hepatocellula... ORPHA:231222
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts OMIM:600666
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Bradykinesia, Cogwheel rigidity, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Stereotypy OMIM:615541
Niemann-Pick Disease Type C
Hepatomegaly, Dementia, Dysphagia, Gait disturbance, Dystonia, Axial dystonia, Feeding difficulti... ORPHA:646
Alveolar Echinococcosis
Cholangitis, Vomiting, Hepatic cysts, Jaundice, Decreased liver function, Ataxia, Biliary cirrhos... ORPHA:284
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia OMIM:617810
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Sepsis, Cholangitis, Hepatomegaly, Cholangiocarcinoma,... ORPHA:480520
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Somatic sensory dysfunction OMIM:603472
Ornithine Transcarbamylase Deficiency
Hepatic failure ORPHA:664
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity, Poor eye contact ORPHA:444002
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Cr... OMIM:618060
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Infectious encephalitis, Cholestatic liver disease, Decreased liver function, Eleva... ORPHA:540
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Hepatic failure ORPHA:3196
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Dysphagia, Hepatic failure ORPHA:2724
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Feeding difficulties, Progressive neurologic deterioration, Elevated gam... OMIM:618329
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... ORPHA:485350
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... ORPHA:98773
Wolman Disease
Nausea and vomiting, Hepatomegaly, Abdominal distention, Hepatic failure, Malnutrition ORPHA:75233
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Cryptorchidism, Hypertonia ORPHA:1192
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... ORPHA:567983
Mohr-Tranebjaerg Syndrome
Babinski sign, Dystonia, Oromandibular dystonia, Shuffling gait, Focal dystonia, Tremor, Inabilit... ORPHA:52368
Leigh Syndrome
Athetosis, Dystonia, Dysphagia, Decreased biotinidase level, Choreoathetosis, Gastrointestinal dy... ORPHA:506
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal p... ORPHA:96
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait, Spasticity ORPHA:457260
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Distal sensory impairment, Tremor, Ataxia, Oculomotor apraxia, Truncal... OMIM:208920
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis ORPHA:70594
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Cholestasis OMIM:615630
Young-Onset Parkinson Disease
Dystonia, Male sexual dysfunction, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity, Fe... ORPHA:2828
Subacute Inflammatory Demyelinating Polyneuropathy
Gait disturbance, Choreoathetosis, Frequent falls, Steppage gait, Positive Romberg sign, Distal s... ORPHA:206594
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapy... ORPHA:382
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Episodic abdominal pain, Hepatic st... ORPHA:228305
Glycogen Storage Disease Iv
Cirrhosis, Hepatosplenomegaly, Portal hypertension, Hepatic failure OMIM:232500
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements OMIM:617302
Giant Cell Arteritis
Anorexia, Gastrointestinal infarctions, Paresthesia, Meningitis, Ataxia, Hepatic failure, Recurre... ORPHA:397
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Vomiting, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepat... ORPHA:71212
Myopathy, Centronuclear, X-Linked
Decreased liver function OMIM:310400
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Feeding difficulties in infancy, Gait disturbance, Intrahepatic biliary atresia, Co... ORPHA:1454
Involuntary movements, Dystonia, Decreased circulating copper concentration, Rigidity, Elevated h... ORPHA:48818
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia OMIM:618049
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Hepatomegaly, Hypokalemia, Recurrent fungal infections, R... OMIM:619573
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Ataxia, Hypertonia, Inability to walk, Attention deficit hyperactivity disorder OMIM:619556
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy ORPHA:159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Impaired distal proprioception, Rigidity, Bradykinesia,... OMIM:157640
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Micropenis, Hyperkinetic movements, ... ORPHA:457240
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepatic transaminas... OMIM:618641
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Ataxia, Oculomotor apraxia, Spasticity, Gait ataxia ORPHA:1170
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Jaberi-Elahi Syndrome
Dystonia, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, Gait ataxia OMIM:617988
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating al... OMIM:617049
Sepsis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Anorexia, Vomiting, Abdominal cramps, ... ORPHA:810
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Vomiting, Nausea, Decreased liver function, Ataxia, Hepatic failure, Hypocalcemia, ... ORPHA:466650
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... ORPHA:765
Congenital Enterovirus Infection
Sepsis, Infectious encephalitis, Hepatitis, Meningitis, Cholestasis, Hepatic failure ORPHA:292
Kallmann Syndrome
Gait disturbance, Abnormal morphology of female internal genitalia, Paraplegia, Hypogonadotropic ... ORPHA:478
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Feeding difficulties, Recurrent infections, Cholelithiasis, Chronic diarrhea, Decre... OMIM:618268
Lennox-Gastaut Syndrome
Hyperactivity, Myoclonus, Falls ORPHA:2382
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Distal sensory impairment, Tremor, Ataxia, Dysdiadochokinesis, Inability to walk, Trun... OMIM:617675
Inverted Duplicated Chromosome 15 Syndrome
Stereotypy, Hypogonadism, Hyperactivity, Cryptorchidism, Precocious puberty, Gonadal dysgenesis ORPHA:3306
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Vomiting, Nausea, Dyspepsia, Decreased liver function, Intestinal obstruction, Hepa... ORPHA:85450
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis, Torsion dystonia OMIM:224500
Gait disturbance, Polycystic ovaries, Tremor, Ataxia, Abnormal testis morphology, Spasticity ORPHA:100
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Ataxia, Abnormality of coord... ORPHA:442835
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Progressive neurologic deterioration, Hepatosplenomegaly, Hepatic failur... OMIM:608013
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Patent ductus arteriosus OMIM:614886
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... OMIM:616586
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Bloody diarrhea, Hepatomegaly, Anorexia, Bowel urgency, Protracted diarrhea,... ORPHA:100075
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Steppage gait, Myoclonus, Intention tremor, Tremor, Distal sensory impa... OMIM:616505
Lafora Disease
Gait disturbance, Dementia, Nasogastric tube feeding, Ataxia, Inability to walk, Hepatic failure,... ORPHA:501
Acquired Purpura Fulminans
Sepsis, Hepatic failure ORPHA:49566
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Impotence, Parkinsonism OMIM:146500
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Speech apraxia, Hyperactivity, Slurred speech, Attention deficit h... ORPHA:98818
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait OMIM:617865
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapyrami... OMIM:615673
Gand Syndrome
Hyperactivity, Tics OMIM:615074
Zellweger Syndrome
Hepatomegaly, Feeding difficulties in infancy, Cognitive impairment, Hepatic failure, Jaundice ORPHA:912
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Feeding difficulties, Decreased liver function, Elevated hepatic transaminase, Gast... OMIM:608779
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Impaired vibr... OMIM:609727
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Tremor, Hyperkinetic movements, Spasticity, Cryptorchidism, Microphallus OMIM:300957
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Dysphagia, Dystonia, Chorea, Ataxia, Hepatic failure, Gait ataxia, Episodic vomitin... ORPHA:255210
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Tonne-Kalscheuer Syndrome
Hypospadias, Tremor, Micropenis, Spasticity, Broad-based gait, Cryptorchidism, Decreased testicul... OMIM:300978
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Cirrhosis, He... OMIM:615486
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Vocal cord paresis, Trem... OMIM:619574
2Q23.1 Microdeletion Syndrome
Stereotypy, Hyperactivity, Ataxia, Cryptorchidism, Hypoplasia of penis ORPHA:228402
Neonatal Lupus Erythematosus
Abnormality of the liver, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase ORPHA:398124
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Hepatosplenomegaly, Prolonge... OMIM:301068
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Cognitive ... OMIM:222470
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abn... OMIM:312080
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia, Difficulty walking ORPHA:529665
Farber Disease
Hepatic fibrosis, Feeding difficulties, Chronic diarrhea, Intrahepatic cholestasis with episodic ... ORPHA:333
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait, Spasticity OMIM:300958
Pearson Syndrome
Hepatomegaly, Dysphagia, Hypokalemia, Macronodular cirrhosis, Hypophosphatemia, Chronic diarrhea,... ORPHA:699
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Tremor, Hypertonia, Torsion dystonia, Blepharospasm OMIM:128100
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Spasticity OMIM:304700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Stereotypy ORPHA:391307
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hepatic failure, Hypocalcemia OMIM:259720
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Hyperkinetic movements OMIM:271980
Serotonin Syndrome
Mental deterioration, Diarrhea, Hepatic failure, Nausea ORPHA:43116
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Decreased 3-hydroxyacyl-CoA dehydroge... OMIM:231530
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:261680
Lysinuric Protein Intolerance