Gene Summary

Name:
glycine receptor, beta subunit
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Glrbem1(IMPC)Tcp HET Early adult 2.39×10-05
preweaning lethality, complete penetrance Glrbem1(IMPC)Tcp HOM   Early adult 0.00
increased circulating aspartate transaminase level Glrbem1(IMPC)Tcp HET Early adult 1.41×10-05
increased circulating alanine transaminase level Glrbem1(IMPC)Tcp HET Early adult 1.21×10-11
increased heart weight Glrbem1(IMPC)Tcp HET Early adult 2.93×10-06
increased spleen weight Glrbem1(IMPC)Tcp HET Early adult 6.15×10-13
decreased freezing behavior Glrbem1(IMPC)Tcp HET Early adult 4.42×10-06
decreased circulating alkaline phosphatase level Glrbem1(IMPC)Tcp HET Early adult 8.79×10-07
decreased circulating serum albumin level Glrbem1(IMPC)Tcp HET Early adult 9.09×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

6 Images

Histopathology

Images

1 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Glrb 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 Glrb by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nondisjunction
Decreased fertility OMIM:158250
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Atonic-Astatic Syndrome Of Foerster
Abasia, Inability to walk, Ataxia, Generalized hypotonia, Hypotonia OMIM:209100
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat... OMIM:618598
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia OMIM:213000
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Neonatal hypotonia, Ataxia OMIM:300703
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Exaggerated startle response, Clonus OMIM:618201
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Axial hypotonia, Unsteady gait ORPHA:494526
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia... ORPHA:94122
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Axial hypotonia, Unsteady ... OMIM:616921
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Axial hypotonia, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Babinski sign, Inability to walk, Scoliosis, Kyphosis, Exaggerated startle respons... OMIM:609541
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spermatogenic Failure 17
Male infertility OMIM:617214
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Axial hypotonia, Dystonia... OMIM:272750
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Difficulty walking, Hoffmann sign, Lower limb spastici... OMIM:615681
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Generalized hypotonia OMIM:264070
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Axial hypotonia, Dystonia, Myoclonus OMIM:619647
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Impaired vibrati... ORPHA:320406
Gm2 Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Infantile axial hypotoni... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Hyperekplexia 2
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614619
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Lower limb spasticity, Spasticity, Exaggerated startle response, Clonus, Axial hypoto... OMIM:616881
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Decreased hepatic echogenicity,... OMIM:613752
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Hypotonia, Loss of ambulation, Dysmetria OMIM:617917
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Myoclonus OMIM:614618
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Tay-Sachs Disease
Hypertonia, Generalized hypotonia, Hypotonia, Exaggerated startle response OMIM:272800
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response, Hypothyroidism, Rigidity, Diabetes melli... ORPHA:3198
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Hyperekplexia 1
Frequent falls, Hypertonia, Exaggerated startle response, Myoclonus OMIM:149400
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Abnormality of extrapyramidal motor function, Intention tremor, Action tremor... OMIM:302500
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ... OMIM:619565
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Limited knee extension,... ORPHA:845
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Increased laxity of ankles, Abnormal spinal cord morp... ORPHA:99947
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Writer'... OMIM:128100
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis OMIM:620357
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Hypogonadism, Ankle clonus OMIM:615768
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic gait, Babinski sign, Limb fasciculations, Increased spinal bone density, Bone pain, Tongu... ORPHA:329475
Leishmaniasis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le... ORPHA:507
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dy... OMIM:608643
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Axia... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Hypotonia, Generalized hypotonia, Clumsiness, ... OMIM:608029
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Sandhoff Disease, Infantile Form
Spasticity, Infantile axial hypotonia, Exaggerated startle response, Myoclonus ORPHA:309155
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Generalized hypotonia,... ORPHA:98763
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Neonatal hypotonia, Hypertonia, Chorea, Spasticity, Exaggerated startle response, Spastic tetrapl... OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hypotonia, Exaggerated startle response OMIM:620114
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Axial hypotonia OMIM:620327
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Dystonia, Myoclonus OMIM:619651
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypotonia OMIM:619561
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Sandhoff Disease
Impaired temperature sensation, Fasciculations, Spasticity, Upper motor neuron dysfunction, Impot... OMIM:268800
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking OMIM:615048
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia... OMIM:267700
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Progressive ... ORPHA:401820
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Joint ... ORPHA:98810
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia, Ascites OMIM:603278
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hypoalbuminemia, Dilated cardiomyopathy, Hepatic steatosis, Microcyti... OMIM:618805
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Athetosis, Abnormal circulating renin, Pulmonary arterial hypertension, Cerebral pa... ORPHA:369929
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Giant somat... OMIM:618876
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Inability to walk, Broad-based gait, Spasticity, Recurrent fractures OMIM:619884
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Abnormal motor neuron morphology, Fasciculations, Hyperlordosis, Cardio... ORPHA:52430
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Congenital contracture, Dystonia, Myoclonus, Spastic t... OMIM:618285
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Ataxia, Unsteady gait, Abnormal pyramida... OMIM:616948
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Fasciculations, Chorea, Spinal ... ORPHA:98756
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Edema of the dorsum of hands, Cerebellar cortical atrophy, Limb hypertonia, Abnorm... ORPHA:521426
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Baker-Gordon Syndrome
Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Scoliosis, Involuntary moveme... OMIM:618218
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Hypertonia, Genu recurvatum, Elbow flexion contracture, Exaggerated startle respon... OMIM:617301
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Hypotonia, Myoclonus OMIM:616366
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Axial hypo... OMIM:606703
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Hypotonia, Myoclonus, Choreoathetosis OMIM:261630
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Scoliosis, Tremor, Waddling gait, Limb m... ORPHA:2590
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Gait disturbance, Frequent falls... ORPHA:216866
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Eosinophili... ORPHA:2070
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Axial hypotonia, Dystonia, Myoclonus ORPHA:324588
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, Generalized hypotonia OMIM:617836
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Babinski sign, Hypertonia, Abnormality of extrapyramidal motor function, Kyphosis,... OMIM:617527
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Gait disturbance, Cogwheel rigidi... OMIM:616981
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Scoliosis, Spasticity, Cere... OMIM:614254
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Generalized ... OMIM:213200
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Appendicular spasticity, Cerebellar atrophy, Exaggerated start... OMIM:620451
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Enterovirus Infection
Myocarditis, Irritability, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, ... ORPHA:292
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia OMIM:619013
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Pancytopeni... OMIM:603553
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Steppage gait, Distal ... OMIM:609260
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Axial hypotonia, Dystonia, Ataxia, Loss of ambulation, Hypotonia, ... OMIM:617916
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Exaggerated startle response, Dystonia, Ataxia, Severe muscular hypotonia ORPHA:438216
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Gait disturbance,... ORPHA:101075
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia, Hypotonia OMIM:616421
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:616710
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Scoliosis, Tremor, Delay... ORPHA:330050
Developmental And Epileptic Encephalopathy 49
Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Axial hypotonia, Myoclon... OMIM:617281
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism, Generalized hypotonia ORPHA:306669
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Oculogyric crisis, Limb hypertonia, Axial hypotonia, Dystonia, Parkinso... OMIM:617384
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Scoliosis, Achilles tendon contracture, Ankle clonus, Somatic sensory... OMIM:620323
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Hypotonia, Dysmetria OMIM:618090
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Writer's cramp OMIM:608105
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Scoliosis, Tremor, Facial palsy, Frequent falls, Myocl... OMIM:159950
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebella... ORPHA:157941
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Axial hypotonia, D... OMIM:618049
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Distal sensory impairment, Claw hand deformity, Fasciculations, Decreased motor ne... OMIM:606595
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Hypotonia, Limb dystonia OMIM:620270
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Impaired pain sensation, Foot osteomyelitis, Spasticity, Abnormal autonomic nervou... ORPHA:139578
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Jaundice, Microvesicular hepatic steatosis, Cholestasis, Increased to... OMIM:618528
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Scoliosis, Tremor, Gait disturbance, Decreased motor nerve... ORPHA:101077
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Gait disturbance... ORPHA:101078
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Head tremor, Intention tremor, Hypergonadotropic hypogonadism, Dystonia... OMIM:613724
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertens... OMIM:219080
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Hypergonadotropic hypog... OMIM:617145
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Myocl... OMIM:616230
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Hypotonia, Spastic tetraplegia ORPHA:599373
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice, Lymphadenopathy, Thromboc... OMIM:603552
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia ORPHA:2589
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticit... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Impaired distal proprio... OMIM:616688
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Scoliosis, Facial ... OMIM:611890
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Resting tremo... OMIM:617225
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins... OMIM:612067
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Generalized hypotonia, Myoclonus OMIM:618587
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Intention tremor,... OMIM:613728
Foxg1 Syndrome
Kyphoscoliosis, Difficulty walking, Hyperkinetic movements, Inability to walk, Scoliosis, Spastic... ORPHA:561854
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Postural tremor, Impa... ORPHA:100988
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Polyhydramnios, Knee flexion contracture, Elbow flexion contracture, Cerebellar at... OMIM:619303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cerebellar cyst, Scoliosis, Exaggerated startle response, Pulmonic stenosis, Flexi... OMIM:253800
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Tremor, Ataxia OMIM:618951
Asparagine Synthetase Deficiency
Hypertonia, Limb hypertonia, Tremor, Exaggerated startle response, Clonus, Axial hypotonia, Hypot... OMIM:615574
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Scoliosis, Athetosis, Cerebellar atrophy, Gait disturbance, Hyp... OMIM:618241
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Delayed cranial sutur... ORPHA:357058
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Dystonia, Increased susceptibility to fractures OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Beaking of vertebral bodies T12-L3, Platyspondyly, Decerebrate rigidity, Spastic... ORPHA:79255
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Gait imbalance, Abnormal upper motor neuron morphology, Spastic... ORPHA:247604
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Babinski sign, Apraxia, Gait disturbance, Myoclonus, Pathologic fracture OMIM:618193
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp... ORPHA:137898
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Cerebellar atrophy, Ataxia, Myoclonus OMIM:600143
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Sideroblastic anem... OMIM:617021
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Abnormal cerebellum morphology, Ataxia, Parkinsonis... OMIM:162350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fusion, Abnormal circul... ORPHA:95699
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Scoliosis, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Babinski sign, Impaired proprioception, Hoffmann sign, Impaired vibration sensatio... OMIM:615491
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Hypotonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ... OMIM:611637
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Trimethylaminuria
Depression, Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Action tremor, Dystonia, ... OMIM:619738
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Scoliosis, Tremor, Spas... ORPHA:3095
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Ascites, Hyper... ORPHA:1667
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Hepatomegaly, Anemia, Hemophagocytosis, Jaundice... ORPHA:540
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Alg1-Cdg
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Behr Syndrome
Optic atrophy, Babinski sign, Adductor longus contractures, Truncal ataxia, Cerebellar vermis atr... OMIM:210000
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Myoclonus, Abnormal autonomic nervous system phys... ORPHA:97355
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... ORPHA:251347
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hypertension, ... ORPHA:403
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Liver Failure, Infantile, Transient
Irritability, Hepatomegaly, Jaundice, Macrovesicular hepatic steatosis, Hyperbilirubinemia, Micro... OMIM:613070
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... OMIM:606353
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Myoclonus, Exaggerated startle response, Axial hypotonia, Dystonia, Hypotonia, Ankle ... OMIM:620423
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Cerebellar a... OMIM:607136
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Ga... ORPHA:99014
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Ascit... OMIM:226300
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Osteopenia, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga... OMIM:617810
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocyto... OMIM:608104
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia, Severe muscular ... ORPHA:477673
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Lingual dystonia, Poor motor coordinat... OMIM:500003
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myocl... OMIM:123400
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Autosomal Dominant Spastic Paraplegia Type 19
Spastic gait, Limb ataxia, Impaired proprioception, Difficulty walking, Babinski sign, Lower limb... ORPHA:100999
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Portal hypertension ORPHA:79319
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Hsd10 Disease
Optic atrophy, Abnormal social behavior, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, S... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno... OMIM:613313
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Wormian bones, Recurrent fractures ORPHA:2773
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly, Hypoalbuminemia,... OMIM:608776
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Loss of ambulation, Ataxia, Myoclonus, Clums... OMIM:256731
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Neuropathic arthropathy, Steppage gait, Distal sensory impairment, Inability to walk, ... ORPHA:36386
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Babinski sign, Bradykinesia, Resting tremor, Chorea, Progressive extrapyramid... ORPHA:225147
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Scoliosis, Kyphosis, Contrac... OMIM:130060
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Hepatomegaly, Ascites, Portal hypertension, Hepatosplenomegaly, Abnormal cardiomyocyte... ORPHA:367
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, Hypotonia, C... OMIM:612438
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Combined Saposin Deficiency
Optic atrophy, Babinski sign, Hyperkinetic movements, Fasciculations, Myoclonus OMIM:611721
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability, Peritonitis ORPHA:656
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Erratic myoclonus, Cerebellar atrophy, Osteoporosis, Ataxia, Myoclonus, Spastic t... OMIM:619971
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Decreased fertility, Testicular atrophy OMIM:313200
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:300619
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Babinski sign, Limb fasciculations, Bradykinesia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia 1
Dorsal column degeneration, Chorea, Fasciculations, Impaired vibratory sensation, Optic atrophy, ... OMIM:164400
Crigler-Najjar Syndrome Type 1
Tremor, Infantile muscular hypotonia ORPHA:79234
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, P... OMIM:261640
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Diffuse cereb... ORPHA:352596
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early ch... ORPHA:401866
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Scoliosis, Tremor, Spasticity, Cerebellar at... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Abnormal nerve conduction velocity, Torticollis, Limb myoclonus, Cereb... OMIM:619862
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Scoliosis, Tr... OMIM:616505
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Hypertension, Osteoporosis, Adrenal hyperplasia, Diabetes mellitus, Primary hypercort... OMIM:615830
Machado-Joseph Disease
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Decreased circulating gonadotrop... OMIM:215470
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Scoliosis, Dystonia, Ataxia, Myoclonus, Choreo... OMIM:619317
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, F... ORPHA:102
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Cerebellar vermis atrophy,... ORPHA:248111
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Axial hypotonia, Ataxia, Hypotonia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Hypotonia, Broad-based gait OMIM:619470
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ata... OMIM:117360
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Abnormality of the vert... ORPHA:909
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Frequent falls, Action myoclonus, Gait ataxia, Myoclonus OMIM:616540
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Axial hypotonia, Ataxia, Abnormal pyr... OMIM:614831
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Congenital contracture, Hypoplasia of the pon... OMIM:607596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... ORPHA:64753
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:617829
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait d... OMIM:300957
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Axial hypotonia, Rigidi... ORPHA:70594
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Tip-toe gait,... OMIM:617013
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia, Myoclonus, Choreoathet... OMIM:301020
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Abnormal ner... ORPHA:98755
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Scoliosis, Mandibular osteomyelitis ORPHA:53697
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Torticollis, Chiari type I malformation, Pathologic fract... ORPHA:73
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Cerebellar hypoplasia, Abnormal ... ORPHA:33445
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Truncal titubation, Positive Romberg sign, Impaired vibration sensation ... ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive prima... ORPHA:251274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Jaundice, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He... OMIM:251880
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Decreased compound muscle action potential amplitude, Fasciculations, Foot osteomy... OMIM:600882
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Multiple Epiphyseal Dysplasia Type 5
Avascular necrosis of the capital femoral epiphysis, Difficulty walking, Genu valgum, Interverteb... ORPHA:93311
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Gait disturbance, Gai... ORPHA:225154
4H Leukodystrophy
Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit... ORPHA:289494
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Spastic atax... OMIM:616795
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Scoliosis, Cerebellar atrophy, Gait disturban... OMIM:620538
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Hypertension, Tremor, Hyperlordosis, Gait disturbance, Limitation of joint mobility, ... ORPHA:1192
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Inability to walk, Dystonia, Myoclonus, Choreoathetosis OMIM:618497
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Cerebellar atrophy, Involuntary movements,... OMIM:617493
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Kyphoscoliosis, Babinski sign, Male hypogonadism, Bradykinesia, Apraxia, Resting tr... OMIM:300055
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Abnormality of extrapyramidal motor functi... OMIM:204200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Bone pain, Neoplasm of the adrenal cortex, S... ORPHA:163634
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Torticollis, Severe platyspondyly, Shallow... OMIM:620639
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:613101
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, Ataxia OMIM:614307
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Lymphangiectasis, Hypoalbuminemia, Hepatic fibrosis OMIM:602579
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Difficulty walking, Fasciculations OMIM:620402
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Chorea, Head titubation, Ataxia, Opisthotonus, Amyotrophic lateral ... ORPHA:300605
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, Generalized hypotonia OMIM:617106
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Impaired pain sensation, Fasciculations, Scoliosi... OMIM:619574
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, Myoclonic spasms, D... ORPHA:79263
Aicardi-Goutieres Syndrome 9
Irritability, Hepatomegaly, Anemia, Acute pancreatitis, Ascites, Portal hypertension, Pericarditi... OMIM:619487
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Somatic sensory dysfunction, Steppage gait, Decreased nerve conduction velocity, Imp... ORPHA:101085
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, F... ORPHA:98933
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Spinocerebellar Ataxia 15