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Gene: Glb1 MGI:88151

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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:
galactosidase, beta 1
Synonyms:
Bgl-s,  Bge,  Bgl,  Bgl-e,  C130097A14Rik,  Bgt,  Bgl-t,  Bgs

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 Glb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Glb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gm1-Gangliosidosis, Type Iii
Slurred speech, Ataxia, Dystonia OMIM:230650
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Gait disturbance, Sea-... OMIM:230600
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminogl... ORPHA:79255
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hypertonia, Cerebral degeneration OMIM:230500
Mucopolysaccharidosis, Type Ivb
Ataxia OMIM:253010

The table below shows human diseases predicted to be associated to Glb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia OMIM:601238
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor ORPHA:94122
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chore... OMIM:618093
Spinocerebellar Ataxia 17
Cerebellar atrophy, Apraxia, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Urinary incontin... OMIM:607136
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... OMIM:618369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Apraxia, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait disturbance, Shuffli... OMIM:221820
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Gliosis, Dystonia OMIM:300857
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... ORPHA:284332
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Christianson Syndrome
Cerebellar atrophy, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal a... ORPHA:85278
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Urinary incontinence, Aggressive behavior, Babinski sign, Cerebral atrophy, Inap... OMIM:221770
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... ORPHA:98934
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tre... ORPHA:363717
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... ORPHA:401820
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... ORPHA:98764
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gait disturba... OMIM:604484
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypogonadism, Myoclonus, Dysphagia, Cerebral corti... ORPHA:97229
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Manganese Poisoning
Dystonia, Postural tremor, Decreased female libido, Akinesia, Aggressive behavior, Hypersexuality... ORPHA:306682
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus... OMIM:615924
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Overweight, Tremor, Hyperkinetic movements, Gait disturbance, Upper li... ORPHA:457240
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... OMIM:225753
Spinocerebellar Ataxia, Autosomal Recessive 14
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor OMIM:615386
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... ORPHA:248111
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Paralysis OMIM:613710
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... OMIM:300894
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... OMIM:168605
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... OMIM:109150
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance... OMIM:168601
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Unsteady gait, Secondary amenorrhea, Primary amenorrhea, Gait di... OMIM:603896
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Spastic/hyperactive blad... ORPHA:411602
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Glios... ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis, Failure to thrive, Elevated urinary delta-ami... OMIM:612740
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tr... OMIM:607454
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... OMIM:616127
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Hepatosplenomeg... ORPHA:2590
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... OMIM:615157
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, I... OMIM:600795
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titubation, Gliosis,... ORPHA:280210
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Hemimegalencephaly
Hemiparesis, Gray matter heterotopia, Gliosis, Myoclonus, Pachygyria, Polymicrogyria, Abnormal ne... ORPHA:99802
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations OMIM:608030
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Spasticit... ORPHA:225154
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Abnormal medullary pyra... ORPHA:79243
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... OMIM:603218
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Butyrylcholinesterase Deficiency
Abnormality of the liver, Paralysis ORPHA:132
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Paralysis, Cerebral atrophy, Oral-pharyngeal dysphagia OMIM:616286
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... OMIM:615010
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Neuronal loss in central nervous syst... OMIM:172700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... OMIM:619470
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... ORPHA:247234
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal... ORPHA:391417
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss ORPHA:52416
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Decreased li... OMIM:614877
Tay-Sachs Disease
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hep... ORPHA:845
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Simplified gyral pattern, Cerebral atrophy, Hypert... OMIM:615095
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... OMIM:169500
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... OMIM:619738
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas... ORPHA:702
Leigh Syndrome
Ataxia, Hepatocellular necrosis, Gliosis, Dystonia, Spasticity, Failure to thrive OMIM:256000
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Aceruloplasminemia
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ... ORPHA:48818
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, Gliosis OMIM:613002
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici... OMIM:616801
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:1532
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Cerebral cort... OMIM:312750
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P... ORPHA:43
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... ORPHA:352403
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, ... OMIM:619847
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Cachexia, Portal hypertension... ORPHA:824
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... OMIM:612936
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal... ORPHA:905
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Neurogenic ... ORPHA:276244
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity, Cerebral cortical atrophy OMIM:300983
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti... OMIM:234200
Whipple Disease
Hepatomegaly, Ataxia, Anorexia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pyr... ORPHA:3452
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce... ORPHA:33445
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Postural tremor, Inability to walk by childhood/adolescence, Vocal cord paralysis,... ORPHA:99947
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... ORPHA:276241
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Hepatic steatosis, Gliosis OMIM:615119
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethar... OMIM:604377
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer... OMIM:614946
Classic Galactosemia
Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... ORPHA:79239
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Rabies
Vocal cord paresis, Attention deficit hyperactivity disorder, Cerebral palsy, Anorexia ORPHA:770
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ... OMIM:248500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cer... OMIM:618321
Acute Peripheral Arterial Occlusion
Leukocytosis, Paralysis ORPHA:90064
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... ORPHA:298
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor... ORPHA:98759
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... OMIM:618718
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal p... ORPHA:363400
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... ORPHA:93952
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... OMIM:159950
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity OMIM:609260
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypopla... OMIM:277470
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... OMIM:300623
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... ORPHA:100024
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellu... ORPHA:391
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity, Pa... ORPHA:168486
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss... OMIM:604218
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Flynn-Aird Syndrome
Ataxia, Cerebral cortical atrophy, Cachexia ORPHA:2047
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Reduction of oligodendr... OMIM:312080
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly,... OMIM:615673
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ... OMIM:301072
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... OMIM:614307
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... OMIM:203700
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Hypoplasia of penis, Cachexia, Aggressive behavior, Tremor, Obes... ORPHA:85293
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... OMIM:261640
Variegate Porphyria
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Paralysis, Porphyr... OMIM:176200
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Anemia ORPHA:2930
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... ORPHA:329284
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Leigh Syndrome
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Neutropenia, Ataxia, Renal tubular dy... ORPHA:506
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Bab... OMIM:607694
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Ataxia, Methylmalonic aciduria ORPHA:1933
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Developmental And Epileptic Encephalopathy 71
Gliosis, Simplified gyral pattern OMIM:618328
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Ataxia, Abnormal testis morphology, Tremor, Decreased... ORPHA:100
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Athetosi... ORPHA:404454
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia ORPHA:75233
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... OMIM:183086
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Aplasia/Hy... ORPHA:1192
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... ORPHA:93941
Horner Syndrome, Congenital
Paralysis OMIM:143000
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive tr... ORPHA:544254
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Dysdiadoc... ORPHA:289494
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... OMIM:614498
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic... OMIM:616840
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Majeed Syndrome
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomega... ORPHA:77297
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... ORPHA:98897
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Neurodeg... OMIM:214150
Japanese Encephalitis
Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Anorexia, Paralysis, Pauc... ORPHA:79139
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity OMIM:618186
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Br... OMIM:619422
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbanc... ORPHA:216866
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Gait disturbance, Cachexia, Proteinuria ORPHA:2774
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Urinary incontinence... OMIM:617193
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,... OMIM:168600
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Inability to walk, Glutaric acid... ORPHA:26791
Congenital Myopathy 9A
Tongue fasciculations, Obesity, Akinesia, Cryptorchidism OMIM:618822
Parkinson Disease 14, Autosomal Recessive
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Global brain a... OMIM:612953
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG ... OMIM:209950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:615181
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic... ORPHA:3240
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Recurrent myoglobinuria, Prot... OMIM:607426
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... OMIM:233910
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Involuntary movements, Oral-pharyngeal... OMIM:615273
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... OMIM:618249
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Lissencephaly, X-Linked, 2
Spasticity, Lissencephaly, Gliosis, Micropenis, Pachygyria, Decreased testicular size OMIM:300215
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... ORPHA:909
Aredyld Syndrome
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly ORPHA:1133
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... ORPHA:458803
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Akinesia, Spastic tetraplegia, Hypochromic microc... OMIM:619147
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Crigler-Najjar Syndrome Type 1
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... OMIM:607485
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, St... OMIM:616505
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia,... ORPHA:2072
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetrapl... OMIM:616586
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Simplified gyral pattern... OMIM:300354
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... OMIM:601162
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... OMIM:617710
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Oral-pharyngeal dysphagia OMIM:616287
Renpenning Syndrome
Hypospadias, Decreased testicular size, Cachexia ORPHA:3242
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Nephropathy ORPHA:87876
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal... ORPHA:191
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Gait ataxia, Steppage gait, Difficulty walking, Loss of ambulation, Vocal cord ... OMIM:614895
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Thrombocytopenia, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Opis... OMIM:608013
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal s... OMIM:614381
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia, Opisthotonus, Ankle ... ORPHA:206436
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Dysphagia OMIM:201550
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... ORPHA:2388
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... OMIM:312170
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Focal segmental glomerulosclerosis, Neurodegeneration, Gliosis, Spasticity, N... OMIM:616239
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Dysphagia,... ORPHA:75567
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Self-injurious behavior, Spastic tetraplegia, Cachexia ORPHA:371364
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Shyness, Aggressive behavior, Tremor, Cryptorchidism, Spasticity, ... OMIM:300978
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Pulmonary Blastoma
Weight loss ORPHA:64741
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Dysph... OMIM:617664
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa... ORPHA:803
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Snakebite Envenomation
Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney i... ORPHA:449285
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Impaired T cell function, Tremor, Splenomegaly, Hypogonadism, Lethargy, Fai... OMIM:201100
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Cachexia, Splenomegaly, Leukopenia, Urinary retent... ORPHA:1328
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Neuroferritinopathy
Abnormal dentate nucleus morphology, Caudate atrophy, Resting tremor, Dystonia, Writer's cramp, P... ORPHA:157846
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, H... OMIM:619487
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... OMIM:208900
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... ORPHA:370959
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... ORPHA:309854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysp... OMIM:613155
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy ORPHA:276608
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Young-Onset Parkinson Disease
Female sexual dysfunction, Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Male sexua... ORPHA:2828
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Pontocerebellar atroph... OMIM:608799
Poliomyelitis
Anorexia, Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Agitation, Fascicula... ORPHA:2912
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell function, Pure red cell a... OMIM:613179
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:613612
Charcot-Marie-Tooth Disease Type 4A
Inability to walk, Unsteady gait, Poor gross motor coordination, Poor fine motor coordination, Vo... ORPHA:99948
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Typhoid
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy ORPHA:99745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hy... OMIM:613153
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... ORPHA:646
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... ORPHA:83629
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tick-Borne Encephalitis
Speech apraxia, Elevated hepatic transaminase, Abnormal medulla oblongata morphology, Incoordinat... ORPHA:297
Rhabdoid Tumor
Cerebral palsy, Weight loss, Hematuria, Anemia, Lymphadenopathy, Neoplasm of the liver, Hemiplegi... ORPHA:69077
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
African Trypanosomiasis
Urinary incontinence, Tremor, Choreoathetosis, Hepatomegaly, Abnormal central motor function, Par... ORPHA:3385
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... ORPHA:37042
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Tremor, Inabi... ORPHA:86309
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Aggressive behavior, Tremor, Brain atrophy, Bruxism, Attention defic... OMIM:618342
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Cerebellar vermis hypo... ORPHA:1454
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt... ORPHA:275761
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... ORPHA:65682
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis OMIM:615490
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... ORPHA:163961
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Corpus callosum atrophy, Splenom... OMIM:261515
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia OMIM:618222
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... OMIM:615512
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology ORPHA:280195
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Developmental And Epileptic Encephalopathy 46
Tremor, Cerebral atrophy, Dysphagia, Failure to thrive, Limb hypertonia OMIM:617162
Central Diabetes Insipidus
Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Vesicoureteral reflux, Weight loss, Lower limb hyper... ORPHA:3208
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia ORPHA:79242
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle c... OMIM:211530
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Ataxia, Dysmetria, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... ORPHA:456312
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia OMIM:608033
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady ga... OMIM:254900
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... OMIM:214500
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, Decreased circulat... OMIM:212065
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Cere... OMIM:222300
Rift Valley Fever
Elevated hepatic transaminase, Anorexia, Paralysis, Paraparesis, Jaundice, Hepatitis, Hematuria, ... ORPHA:319251
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... OMIM:606002
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Ab... ORPHA:247585
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:230800
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Tremor, Splenomegaly, Unsteady gait, Hepatosplenomegaly, ... ORPHA:354
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... ORPHA:284
Gitelman Syndrome
Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Poly... OMIM:263800
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Tuberculosis
Weight loss ORPHA:3389
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia ORPHA:50251
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... ORPHA:98850
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Self-injurious behavior, Gliosis, Cerebellar hypoplasia, Vesicouretera... ORPHA:261652
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Hepatomegaly, Elevated hepat... OMIM:615356
Microsporidiosis
Brain abscess, Cholangitis, Anorexia, Cachexia, Abnormality of the spleen, Lymphadenitis, Urethri... ORPHA:2552
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... OMIM:610965
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le... OMIM:616271
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... OMIM:252150
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Weight loss, Agitation, ... ORPHA:134
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Unsteady gait, Impaired tandem gait, Loss of ambulation, Vocal cord paresis, Frequent falls ORPHA:101097
Cystathioninuria
Tremor ORPHA:212
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... ORPHA:812
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria,... OMIM:252160
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Tetrasomy 12P
Cachexia ORPHA:884
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft OMIM:617542
Fatal Familial Insomnia
Ataxia, Weight loss, Urinary retention, Myoclonus, Dysphagia, Neuronal loss in central nervous sy... OMIM:600072
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Anorexia OMIM:175500
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Periodic... OMIM:276700
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosi... ORPHA:20
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Weight loss ORPHA:30925
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Foodborne Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Urinary retention, Dysphagia ORPHA:228371
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Ketonuria, Hypospadias, Small for gestational age, Tremor, ... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei OMIM:615578
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple... ORPHA:53035
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... OMIM:617988
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Splenomegal... ORPHA:465508
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Tremor, Incr... ORPHA:263455
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Medullary Thyroid Carcinoma
Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia ORPHA:1332
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Hypospadias, Cachexia ORPHA:217346
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations ORPHA:682
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Decr... ORPHA:217260
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Isaacs Syndrome
Fasciculations, Weight loss ORPHA:84142
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Glioblastoma
Glioblastoma multiforme, Paralysis ORPHA:360
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Paralysis, Respiratory paralysis, Urinary retention, Hepatocellula... OMIM:176000
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... OMIM:618325
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy OMIM:313200
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Impaired social interactio... ORPHA:1942
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymp... ORPHA:3162
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism, Aggressive behavior OMIM:606688
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Paraplegia, Leukop... OMIM:617053
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Arthrogryposis Multiplex Congenita 6
Hypospadias, Akinesia OMIM:619334
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesity, Decreased testicula... ORPHA:813
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... ORPHA:94080
Schwartz-Jampel Syndrome
Cachexia, Abnormality of the ureter, Nephrolithiasis, Blepharospasm, Hypertonia, Gait disturbance... ORPHA:800
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polymicrogyria, Dandy-Walker malformation, Cerebellar hypoplasia, Akinesia OMIM:225790
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis,... OMIM:300868
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, H... ORPHA:79095
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Unsteady gait, Difficulty walking, Dysphagia, Vocal cord paresis ORPHA:600
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... ORPHA:572798
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Aggressive behavior... OMIM:617799
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Akinesia OMIM:607598
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Hypertonia, Poikilocytosis, Dystonia, M... OMIM:618947
Ddost-Cdg
Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Failure to ... ORPHA:300536
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Hydronephrosis, Cerebel... OMIM:620327
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Leth... OMIM:143880
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... OMIM:256700
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... ORPHA:167
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Metachromatic Leukodystrophy
Incoordination, Ataxia, Urinary incontinence, Tremor, Neoplasm of the gallbladder, Abnormal gallb... ORPHA:512
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Small for ... ORPHA:268261
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Lynch Syndrome
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... ORPHA:144
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Fetal Akinesia Deformation Sequence
Cryptorchidism, Dandy-Walker malformation, Akinesia ORPHA:994
Multiple System Atrophy 1, Susceptibility To
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... OMIM:146500
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Dystonia, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Dysphagia,... ORPHA:500144
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Paralysis OMIM:612300
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi... ORPHA:713
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Jaundice, Neutr... ORPHA:525731
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski s... ORPHA:447753
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Cryptorchidism, Glio... ORPHA:506358
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Paralysis, Nephrolithiasi... ORPHA:18
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Cachexia, Abnormality of neuronal migratio... ORPHA:647
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis, Lymphadenopathy, Dysphagia ORPHA:142
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... ORPHA:90003
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... ORPHA:440437
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Elevated hepatic transaminase, Ataxia, Tremor, Rigidity, Gait... ORPHA:254892
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
Pyruvate Carboxylase Deficiency
Hepatomegaly, Failure to thrive, Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal... ORPHA:3008
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Weight loss OMIM:188580
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atroph... OMIM:617186
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric... ORPHA:25
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Paralysis ORPHA:83601
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia OMIM:603041
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Inability to walk, Gait ataxia, Tongue fasciculations, Diffic... ORPHA:99949
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, In... OMIM:212750
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Anorexia, Pancreatitis, Jaundice, Weight los... ORPHA:370348
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Aminoaciduria, Limb dystoni... OMIM:277900
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Tremor, Paralysis, Obesity, Tetraplegia, Weight loss, Urinary retent... ORPHA:79102
Trisomy 18
Cachexia, Cryptorchidism, Hypertonia, Chiari malformation, Hydronephrosis ORPHA:3380
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Increased body weight, Lethargy, Polyphagia ORPHA:97279
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Atrophy of the spinal cord, Increased circulating antibody level, Fascicula... ORPHA:99965
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Hepat... OMIM:615846
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Thro... OMIM:251100
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Vocal cord paralysis, Poor fine motor coordination, Tip-toe gait, Diff... ORPHA:99956
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss... ORPHA:514
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance ORPHA:98853
Gm1-Gangliosidosis, Type Iii
Slurred speech, Ataxia, Dystonia OMIM:230650
Felty Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellularity, Ne... ORPHA:47612
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, ... ORPHA:478
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leu... ORPHA:520
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody... ORPHA:90362
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuri... ORPHA:2203
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia ORPHA:8
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss ORPHA:99868
Scrub Typhus
Renal insufficiency, Tremor, Splenomegaly, Lymphadenopathy, Lethargy ORPHA:83317
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Ataxia, ... ORPHA:90321
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Dysphagia, Enuresis noctu... OMIM:615873
Joubert Syndrome With Renal Defect
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor a... ORPHA:220497
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Erdheim-Chester Disease
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Ab... ORPHA:35687
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Dysphagia ORPHA:397744
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ... ORPHA:2131
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Proteinuria, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nerv... ORPHA:183
Mucopolysaccharidosis Type 3
Adenoiditis, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Hepatomegaly, Hyperactivity... ORPHA:581
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... ORPHA:276621
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Brucellosis
Liver abscess, Anorexia, Chorea, Leukopenia, Increased circulating IgG level, Abnormality of the ... ORPHA:1304
Polymyositis
Hepatomegaly, Gait disturbance, Anorexia, Weight loss ORPHA:732
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Anemia, Weight loss ORPHA:1842
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis OMIM:267200
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance... ORPHA:475
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss ORPHA:1164
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hepatitis,... ORPHA:781
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia ORPHA:684
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia ORPHA:168816
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss ORPHA:26790
Attrv30M Amyloidosis
Nephropathy, Impotence, Abnormal renal physiology, Weight loss ORPHA:85447
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Gitelman Syndrome
Neoplasm of the pancreas, Salt craving, Proteinuria, Urinary incontinence, Decreased urinary pota... ORPHA:358
12Q14 Microdeletion Syndrome
Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypoplasia, Horseshoe kidney, Chiari mal... ORPHA:94063
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Urinary incontinence, Tremor, Inability to walk, Atrophy of the spinal cord, ... ORPHA:466768
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Throm... ORPHA:50918
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia OMIM:185070
Gracile Bone Dysplasia
Asplenia, Micropenis, Failure to thrive, Hypoplastic spleen OMIM:602361
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Gait disturbance, Sea-... OMIM:230600
Inhalational Botulism
Urinary retention, Paralysis ORPHA:254504
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Arnold-Chiari Malformation Type I
Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiari type I malformatio... ORPHA:268882
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait at... OMIM:607459
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... ORPHA:1333
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Weight loss, Nephrotic syndr... ORPHA:85443
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Glossopharyngeal Neuralgia
Chiari type I malformation, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Anorexia, He... ORPHA:199299
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Steppage gait OMIM:601152
Giant Cell Arteritis
Renal insufficiency, Ataxia, Anorexia, Mediastinal lymphadenopathy, Weight loss, Hematuria, Hepat... ORPHA:397
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Brain atro... OMIM:616539
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Pachygyria, Tremor, Spasticity, Chor... ORPHA:1934
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Weight loss, Enuresis nocturna, Decreased circulating total ... ORPHA:420741
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... ORPHA:37553
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... ORPHA:449400
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Joubert Syndrome 2
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... OMIM:608091
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Periodic hypokal... OMIM:259730
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... OMIM:619377
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Takayasu Arteritis
Anemia, Anorexia, Weight loss ORPHA:3287
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Dandy-Walker malformation, ... OMIM:617822
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono... ORPHA:91139
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Hepatiti... ORPHA:139402
Norrie Disease
Clonus, Cachexia, Cryptorchidism, Self-injurious behavior, Hypertonia, Attention deficit hyperact... ORPHA:649
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy, Weight loss ORPHA:654
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... ORPHA:29072
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:2720
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune th... ORPHA:51
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Diaphanospondylodysostosis
Horseshoe kidney, Abnormal liver lobulation, Polymicrogyria, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Dysphagia, Weight loss, Brain atrophy, Difficulty walking OMIM:164310
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Dysphagia, Anemia ORPHA:2070
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... ORPHA:100080
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of t... OMIM:213300
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... ORPHA:356961
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abnormal l... ORPHA:99776
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Tremor, Schistocytosis... OMIM:274150
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Media... ORPHA:160
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Anemia ORPHA:79076
Gaucher Disease
Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Tremor, Thrombocytopenia, Splenomegaly, Hemipleg... ORPHA:355
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Increased circulating IgG level, Cho... ORPHA:449395
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Tremor, Splenomegaly,... OMIM:216400
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Long pen... ORPHA:744
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubul... ORPHA:49041
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss ORPHA:2902
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Cholestasis, Weight loss ORPHA:95427
Listeriosis
Brain abscess, Liver abscess, Ataxia, Abscess, Tremor, Jaundice, Peritonitis, Abnormal cellular i... ORPHA:533
Microphthalmia, Syndromic 9
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen, Pe... OMIM:601186
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Failure to thrive, Ketonuria, Ataxia, Weight loss, Renal tubular dysfunction, Glycosuria... ORPHA:99885
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss ORPHA:33577
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Behçet Disease
Renal insufficiency, Ataxia, Anorexia, Orchitis, Splenomegaly, Abnormal pyramidal sign, Weight lo... ORPHA:117
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Cerebral atrophy, Dysphagia, 3-Methylglutaric aciduria, 3-Met... OMIM:617248
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dyspareunia, Dysuria, ... ORPHA:36426
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... ORPHA:100082
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Vocal cord paral... ORPHA:64744
Familial Glucocorticoid Deficiency
Anorexia, Renal salt wasting, Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight ... ORPHA:361
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Hepatic failure ORPHA:97287
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Decreased circulating antibody level,... ORPHA:29073
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Ne... ORPHA:97289
Seckel Syndrome
Cachexia ORPHA:808
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia ORPHA:729
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Streak ovary, Ependymoma, Abnormalit... ORPHA:798
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia ORPHA:90060
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... ORPHA:99867
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss ORPHA:171876
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Weight loss ORPHA:2221
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... ORPHA:100075
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Systemic Capillary Leak Syndrome
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis ORPHA:188
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Leukopenia, Iron def... OMIM:619488
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Shyness, Unilateral vocal cord pa... OMIM:301030
Sarcoidosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocy... ORPHA:797
Diets-Jongmans Syndrome
Hypospadias, Aggressive behavior, Cryptorchidism, Gliosis, Attention deficit hyperactivity disorder OMIM:618846
Marfan Syndrome
Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Poems Syndrome
Lymphadenopathy, Weight loss, Increased circulating antibody level, Hypogonadism, Erectile dysfun... ORPHA:2905
Ménétrier Disease
Hypochromic microcytic anemia, Anorexia, Weight loss ORPHA:2494
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia ORPHA:67
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney ORPHA:79128
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Micropenis, Failure to thrive, Gliosis OMIM:617403
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... OMIM:619381
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Increased circulating IgA level, Increased body weight, ... ORPHA:2298
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly ORPHA:75565
Stickler Syndrome
Hemiplegia/hemiparesis, Slender build, Cachexia ORPHA:828
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... ORPHA:71273
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Pneumocystosis
Weight loss, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss ORPHA:2126
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Weight loss ORPHA:411703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Cerebellar malformation, Da... OMIM:236670
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iron concentratio... OMIM:619991
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary urgency, Vocal cord paresis, Urinary incontinence OMIM:606071
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Anorex... OMIM:181000
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Weight loss ORPHA:95626
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Salt craving, Decreased female libido, Anorexia, Decrease... ORPHA:95409
Williams-Beuren Syndrome
Vocal cord paralysis, Chiari type I malformation, Nephrocalcinosis, Vesicoureteral reflux, Microp... OMIM:194050
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity ORPHA:444013
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Addison Disease
Normocytic anemia, Salt craving, Premature ovarian insufficiency, Primary testicular failure, Ano... ORPHA:85138
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Hypochromic microcyti... ORPHA:97283
Focal Myositis
Weight loss ORPHA:48918
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Obesity, Weight loss, Attention deficit hyperactivity disorder ORPHA:251071
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Nephrolithi... ORPHA:143
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... ORPHA:97282
Mucolipidosis Type Ii
Splenomegaly, Inability to walk, Weight loss, Hepatosplenomegaly ORPHA:576
Postinfectious Vasculitis
Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anore... ORPHA:48435
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... ORPHA:97278
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Neoplasm of the thymus, Intrahepatic cholestasi... ORPHA:97261
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... ORPHA:100078
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology ORPHA:83597
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Acrodermatitis Enteropathica
Failure to thrive, Cerebral cortical atrophy, Anorexia, Weight loss ORPHA:37
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Weight loss ORPHA:324964
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Acanthocytosis, Intrahepatic cholestasis, Extra... ORPHA:97280
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity ORPHA:254930
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Osteosarcoma
Weight loss ORPHA:668
Pmm2-Cdg
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Proteinuria, Abnormality of ... ORPHA:79318
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... ORPHA:1501
Feingold Syndrome 1
Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas OMIM:164280
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Abnorm... ORPHA:84
Polyarteritis Nodosa
Weight loss ORPHA:767
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Anorexia, Insulinoma, Ependymoma, Nephrolithiasis, Hypercalciuria, Weig... ORPHA:652
Hermansky-Pudlak Syndrome
Renal insufficiency, Menometrorrhagia, Anorexia, Weight loss, Neutropenia ORPHA:79430
Cap Polyposis
Weight loss ORPHA:160148
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... ORPHA:1018
Bullous Pemphigoid
Weight loss ORPHA:703
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Granulomatosis With Polyangiitis
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Weight loss, Hematuria, Granul... ORPHA:900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Hypertonia, Dysphagia, Oral aversion, Vo... ORPHA:1199
Liposarcoma
Weight loss ORPHA:69078
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminogl... ORPHA:79255
Short Syndrome
Weight loss ORPHA:3163
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Weig... ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Anorexia, Pancreatoblastoma, Neoplas... ORPHA:99889
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Weight loss, Testicular... ORPHA:764
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy ORPHA:258
Nocardiosis
Brain abscess, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Weight loss, Cutaneous abscess ORPHA:31204
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobu... ORPHA:91500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology ORPHA:464311
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Decreased fertility, Weight loss, Hematuria, Testicular mi... ORPHA:60025
Rheumatoid Arthritis
Weight loss OMIM:180300
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Rat-Bite Fever
Lymphadenitis, Pancreatitis, Anemia, Weight loss ORPHA:31205
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss ORPHA:52417
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology ORPHA:139396
Achondroplasia
Brain stem compression OMIM:100800
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypogonadotropic hypogonadism, Renal salt wasting, Abnormality of the menstrual cycle, Long penis... ORPHA:90794
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Full Nf2-Related Schwannomatosis
Brain stem compression, Abnormal cerebellum morphology ORPHA:637
Codas Syndrome
Cryptorchidism, Vocal cord paresis OMIM:600373
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:913
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Urinary bladder inflammation, We... ORPHA:99921
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hypertonia, Cerebral degeneration OMIM:230500
Meningioma
Brain stem compression, Abnormal cerebellum morphology ORPHA:2495
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Dysphagia ORPHA:2020
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Weight loss, Shuffling gait, Severe failure to thrive, Delayed menarche ORPHA:740
Alobar Holoprosencephaly
Abnormal brainstem morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal brainstem morphology ORPHA:93926
Lobar Holoprosencephaly
Abnormal brainstem morphology ORPHA:93924
Semilobar Holoprosencephaly
Abnormal brainstem morphology ORPHA:220386
Mucopolysaccharidosis, Type Ivb
Ataxia OMIM:253010
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... OMIM:233450
Osteogenesis Imperfecta
Brain stem compression ORPHA:666
Reactive Arthritis
Weight loss ORPHA:29207
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987

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 Glb1

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 Glb1.

No publications found that use IMPC mice or data for Glb1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Glb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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