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Gene: Glrb MGI:95751

Gene Summary

Name:

glycine receptor, beta subunit

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating alkaline phosphatase level	Glrb^em1(IMPC)Tcp	HET	Early adult	8.76×10^-07
decreased circulating serum albumin level	Glrb^em1(IMPC)Tcp	HET	Early adult	6.99×10^-05
increased spleen weight	Glrb^em1(IMPC)Tcp	HET	Early adult	6.16×10^-13
decreased exploration in new environment	Glrb^em1(IMPC)Tcp	HET	Early adult	7.24×10^-05
increased heart weight	Glrb^em1(IMPC)Tcp	HET	Early adult	7.06×10^-06
increased circulating aspartate transaminase level	Glrb^em1(IMPC)Tcp	HET	Early adult	1.41×10^-05
decreased freezing behavior	Glrb^em1(IMPC)Tcp	HET	Early adult	4.42×10^-06
increased circulating alanine transaminase level	Glrb^em1(IMPC)Tcp	HET	Early adult	1.21×10^-11
preweaning lethality, complete penetrance	Glrb^em1(IMPC)Tcp	HOM	Early adult	0.00
increased neutrophil cell number	Glrb^em1(IMPC)Tcp	HET	Early adult	2.40×10^-05

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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

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Eye Morphology

Images Ophthalmoscopy

9 Images

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Gross Morphology Embryo E14.5-E15.5

Images

8 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Eye Morphology

Images Slit Lamp

3 Images

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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.

Human diseases associated with Glrb (2 diseases)
Human diseases predicted to be associated with Glrb (1321 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hyperekplexia 2		Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Hereditary Hyperekplexia		Joint dislocation, Ataxia, Joint stiffness, Rigidity, Hip dislocation, Hypertonia, Gait disturban...	ORPHA:3197

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

Disease	Matching phenotypes	Source
Nondisjunction	Decreased fertility	OMIM:158250
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Atonic-Astatic Syndrome Of Foerster	Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia	OMIM:209100
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi...	OMIM:618598
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Hypotonia	OMIM:213000
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Ataxia, Action tremor	OMIM:300703
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus	OMIM:159900
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Tremor	OMIM:610297
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Developmental And Epileptic Encephalopathy 68	Spasticity, Clonus, Exaggerated startle response, Myoclonus	OMIM:618201
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Spastic paraparesis	OMIM:312910
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Cerebellar Ataxia, Cayman Type	Broad-based gait, Hypotonia, Gait ataxia, Truncal ataxia, Intention tremor	OMIM:601238
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f...	OMIM:616921
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Generalized hypotonia	OMIM:264070
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Opti...	OMIM:609541
Spinocerebellar Ataxia 43	Ataxia, Rigidity, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Rigidity, Tremor, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spermatogenic Failure 17	Male infertility	OMIM:617214
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Generalized hypo...	ORPHA:94122
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa...	ORPHA:320406
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ...	ORPHA:309246
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Clonus, Hypertonia,...	OMIM:616881
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Rigidity, Tremor, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Dystonia, Postural tremor, Involuntary movements, Torsion dyst...	ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Tay-Sachs Disease	Exaggerated startle response, Hypertonia, Hypotonia, Generalized hypotonia	OMIM:272800
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Autosomal Spastic Paraplegia Type 72	Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles	ORPHA:401849
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia	OMIM:600116
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal py...	OMIM:613135
Parkinson-Dementia Syndrome	Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism	OMIM:260540
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Rigidity, Falls, Difficult...	ORPHA:3198
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic 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
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyramidal motor function,...	OMIM:302500
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia...	OMIM:618056
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia	ORPHA:210571
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Lim...	OMIM:608643
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p...	ORPHA:845
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram...	OMIM:128100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired temperature sensation, Flexion contracture, Vocal cord paralysis, Hand tremor, Increased...	ORPHA:99947
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Axial hypotonia, Tremor, Cryptorchidism, Fasciculations, Limb hyper...	OMIM:620327
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity	OMIM:615768
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Recurrent fractures, Babinski sign, Spastic paraplegia, Bone pain,...	ORPHA:329475
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Parkinson Disease 17	Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia	OMIM:614203
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg...	ORPHA:507
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv...	ORPHA:284332
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia, Spasticity, Intenti...	OMIM:608029
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia...	OMIM:607317
Diarrhea 13	Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Sandhoff Disease, Infantile Form	Infantile axial hypotonia, Spasticity, Myoclonus, Exaggerated startle response	ORPHA:309155
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Generalized hypotonia	OMIM:619099
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Hypotonia	OMIM:620114
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Neonatal hypotonia, Spasti...	OMIM:617864
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Tongue fa...	OMIM:608800
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ankle clonus, Bradykin...	ORPHA:521406
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Hypotonia, Impotence, Fasci...	OMIM:268800
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Axial hypotonia, Myoclonus, Dystonia	OMIM:619651
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta...	ORPHA:454887
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypotonia	OMIM:619561
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine...	ORPHA:98810
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ...	ORPHA:401820
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized hypotonia, Limb...	ORPHA:71517
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Adrenal hyperplasia, Epistaxis, Spastic paraplegia, Abnormal circulating renin, I...	ORPHA:369929
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor...	OMIM:618876
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Congestive heart failure, Cranial ne...	ORPHA:52430
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Broad-based gait, Recurrent fractures, Inability to walk, Spasticity	OMIM:619884
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H...	ORPHA:101109
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Babinski sign, Impaired vibrat...	ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus...	OMIM:618285
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc...	OMIM:618805
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Baker-Gordon Syndrome	Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov...	OMIM:618218
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens...	OMIM:600363
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Clonus, Flexion con...	OMIM:617301
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac...	ORPHA:2590
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,...	OMIM:606703
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Rigidity, Tremor, Abnormal pyra...	ORPHA:240103
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Hypotonia, Myoclonus	OMIM:616366
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos...	ORPHA:292
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Rigidity, Tremor, Bradykinesia, Generalized hypotonia, Dystonia	OMIM:617836
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Edema, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal p...	OMIM:617527
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,...	OMIM:616981
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Inc...	ORPHA:216866
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Inappro...	OMIM:614254
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Rigidity, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction...	ORPHA:276435
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge...	OMIM:213200
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Flexion contract...	OMIM:609260
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a...	OMIM:617916
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, Dystonia	ORPHA:438216
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve co...	ORPHA:101075
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd...	OMIM:618049
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Hypotonia, Limb dystonia	OMIM:620270
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Axial hypotonia, Facial-lingual fasciculations, Spastic tetraplegia...	OMIM:617281
Parkinson Disease 22, Autosomal Dominant	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:616710
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Hypotonia, Eyelid myoclonus	OMIM:616421
Parkinson Disease 21	Rigidity, Tremor, Bradykinesia, Parkinsonism	OMIM:616361
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff...	OMIM:159950
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki...	ORPHA:330050
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia	ORPHA:306669
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Spastic Paraplegia 70, Autosomal Recessive	Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis...	OMIM:620323
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Generalized hypotonia...	OMIM:617384
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Rigidity, Tremor, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I...	OMIM:612736
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Claw hand deformity, Distal sensory impairment, Steppa...	OMIM:606595
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clu...	ORPHA:157941
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Babinski sign, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Unsteady gait,...	ORPHA:453521
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Thoracic scoliosis, Ataxia,...	OMIM:610185
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torticollis, Tremor, Torsion dystonia	OMIM:224500
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, A...	ORPHA:139578
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme...	OMIM:208920
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis	OMIM:619013
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem...	OMIM:613724
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Kyphosis, Gait dist...	ORPHA:101078
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Truncal a...	OMIM:616127
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis...	OMIM:219080
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata...	OMIM:616230
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk...	ORPHA:101077
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hydrops fetalis, Hypoplastic vertebral bodies, Cardiomyopathy, Plat...	ORPHA:79255
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk...	OMIM:611890
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor...	OMIM:221770
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ...	OMIM:617145
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception...	OMIM:616688
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B...	ORPHA:240094
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ...	OMIM:613608
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Spastic paraplegia, Abnormal ...	OMIM:617225
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Postural tremor, Rigidity, Babinsk...	ORPHA:101150
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Polyhydramnios, Hypoplasia of the pons, Optic atrophy, Elbow flexion contract...	OMIM:619303
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para...	ORPHA:100988
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Cerebel...	OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia	OMIM:618587
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote...	OMIM:616267
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoc...	OMIM:618241
Asparagine Synthetase Deficiency	Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Hypotonia, Spastic tetraplegia, Hy...	OMIM:615574
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Axial hypotonia, Ataxia	OMIM:618951
Foxg1 Syndrome	Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Impaired s...	ORPHA:561854
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex...	ORPHA:137898
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper...	ORPHA:247604
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hip contracture, Hyperlordosis, Kyphosis,...	OMIM:615290
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture	OMIM:618193
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Increased susceptibility to fractures, Dystonia, Spasticity	OMIM:304700
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves...	OMIM:613070
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculations, Myoclonus, Spinoce...	OMIM:183090
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio...	OMIM:162350
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Persistent open anterior fontanelle, Cerebellar vermis hypoplasia, Atax...	ORPHA:357058
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation	OMIM:614018
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Imp...	OMIM:619738
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ...	OMIM:605259
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Peritonitis, Hypoalbuminemia	ORPHA:656
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ...	ORPHA:1667
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Joint laxity, Cerebellar vermis hypoplasia, Ataxia,...	ORPHA:251347
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Un...	OMIM:210000
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria...	OMIM:607136
Lichtenstein-Knorr Syndrome	Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen...	DECIPHER:29
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Gait disturbance, ...	ORPHA:99014
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Limitation of movement at ankles, Somatic sensory dysf...	ORPHA:206594
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Rigidity, Tremor, Chorea, Babinski sign, Blepharospasm, Cho...	OMIM:606159
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl...	OMIM:123400
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa...	ORPHA:391417
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,...	ORPHA:352649
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia,...	OMIM:617810
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Rigidity, Tremo...	ORPHA:99750
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo...	OMIM:256731
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Opt...	ORPHA:98755
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult...	ORPHA:477673
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Generalized...	OMIM:233910
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Ataxia, Rigidity, Tremor, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax...	OMIM:612438
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced...	ORPHA:90362
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, Polyhydramnios, Osteoporosis, Spastic tetraplegia, Myoclonus, Cerebel...	OMIM:619971
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle...	OMIM:617435
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Kyphosis, Li...	ORPHA:3095
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins...	OMIM:615157
Combined Saposin Deficiency	Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Osteomyelitis, Neuropathic arthropathy, Impaired temperature sensation, Inabi...	ORPHA:36386
Crigler-Najjar Syndrome Type 1	Tremor, Infantile muscular hypotonia	ORPHA:79234
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Perim...	OMIM:608104
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait	OMIM:618387
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis	ORPHA:329284
Progressive Myoclonic Epilepsy With Dystonia	Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function...	ORPHA:352596
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia, Hypotonia, Generalized hypotonia	OMIM:300619
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho...	ORPHA:88618
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,...	ORPHA:280219
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of the ventral pons, Degener...	OMIM:607596
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Mpi-Cdg	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Portal hypertension	ORPHA:79319
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Bradykinesia, Hypertoni...	OMIM:261640
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidis...	OMIM:300957
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Coenzyme Q10 Deficiency, Primary, 4	Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus	OMIM:612016
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyo...	ORPHA:367
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Flexion con...	OMIM:616505
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Dysmetria, Gait ataxia, Impaired ta...	OMIM:117360
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Hypertension, Increased circula...	OMIM:615830
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls	OMIM:616540
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,...	OMIM:619317
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Hypotonia, Spastic tetraparesis	OMIM:619470
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Spinocerebellar Ataxia, Autosomal Recessive 13	Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait atax...	OMIM:614831
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
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ...	OMIM:215470
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal pyramidal sign, Thoracic kyphosis, Hypothyroidism, Abnormal cerebellar pedun...	ORPHA:909
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f...	OMIM:301020
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Fasciculations	OMIM:313200
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ...	ORPHA:33445
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Impaired vi...	ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking	OMIM:615575
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Dystonia, Lim...	ORPHA:70594
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Scoliosis	ORPHA:53697
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:100999
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc...	OMIM:617013
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Tremor, Cryptorchidism, Limitation of joint mobility, Hypertension, Hypertonia, Ga...	ORPHA:1192
Gorham-Stout Disease	Osteopenia, Torticollis, Osteomyelitis, Edema, Spinal cord compression, Osteolysis involving bone...	ORPHA:73
Ceroid Lipofuscinosis, Neuronal, 3	Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Concentric hypertrophic cardiomyopat...	OMIM:204200
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Foot osteomyelitis, Somatic sensory dysfunction, Decre...	OMIM:600882
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Congestive heart failure, Dilated ca...	ORPHA:206546
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Rigidity, Tremor, Head titubation, Hypotonia, Truncal ataxia, Gait ataxia, Choreoat...	OMIM:618877
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd...	ORPHA:93311
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Pericardia...	OMIM:619487
Hereditary Geniospasm	Abnormal social behavior, Chin myoclonus, Intention tremor	ORPHA:53372
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,...	ORPHA:13
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga...	OMIM:616795
Maffucci Syndrome	Neoplasm of the adrenal cortex, Cerebral palsy, Recurrent fractures, Neoplasm of the parathyroid ...	ORPHA:163634
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi...	ORPHA:225154
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi...	ORPHA:401866
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618497
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotrop...	ORPHA:289494
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, S...	OMIM:617493
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,...	ORPHA:90117
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Primary amenorrhea, Adrenogenital syndrome	OMIM:202110
Intermediate Nemaline Myopathy	Facial palsy, Polyhydramnios, Multiple prenatal fractures, Flexion contracture, Facial diplegia, ...	ORPHA:171433
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Tremor, Babinski sign, Spastic pa...	OMIM:300055
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi...	OMIM:302800
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Kyphoscoliosis, Impaired ...	OMIM:619574
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upp...	ORPHA:300605
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Puberty and gonadal disorders, Kyphosis, Unsteady g...	ORPHA:464282
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O...	ORPHA:101085
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia	OMIM:617106
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Exaggerated startle response, Broad-based gait, Joint laxity, Invo...	ORPHA:438213
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Reni Syndrome	Mental deterioration, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, Tremor, Hyperkineti...	ORPHA:457240
Spinocerebellar Ataxia Type 21	Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Waddling gait, Joint laxity, Wormian bones, Isosexual precocious puberty, Osteoporosi...	ORPHA:2788
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Lymphangiectasis	OMIM:602579
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Osteo...	OMIM:612199
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia	OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Incoordination, Ataxia, Limb joint contracture, Abnormal pyramidal sign, Abno...	ORPHA:309162
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Inability to walk, Recurrent fractures	OMIM:620368
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g...	ORPHA:254343
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Hypoalbumi...	OMIM:617303
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Rigidity, Tremor, Paraparesis, Spastic paraplegia, B...	OMIM:606693
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Hypogonadism, Abnormal autonomic n...	ORPHA:97229
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Raynau...	ORPHA:227510
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign...	OMIM:607694
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di...	OMIM:604484
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hypotonia, Neonatal hyp...	OMIM:614867
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab...	ORPHA:2410
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:100989
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons...	ORPHA:67
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculomotor apraxia, S...	ORPHA:1170
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Monosomy 5P	Joint hyperflexibility, Recurrent fractures, Abnormality of bone mineral density, Scoliosis	ORPHA:281
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Trisomy X	Tremor, Hypotonia, Secondary amenorrhea	ORPHA:3375
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Co...	ORPHA:3077
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto...	ORPHA:363722
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babin...	OMIM:617282
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc...	OMIM:618060
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations	OMIM:608030
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ...	ORPHA:210110
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Pericardial effusion, Babinski sign, Op...	OMIM:620089
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ...	ORPHA:284289
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Peritonitis,...	ORPHA:36234
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora...	OMIM:311510
Amish Nemaline Myopathy	Neonatal hypotonia, Tremor	ORPHA:98902
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Flexion contracture, Optic atrophy, Myoclonus, Spasticity	OMIM:256730
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204300
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Optic...	ORPHA:401768
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:259450
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im...	OMIM:300623
Neuropathy, Hereditary Sensory And Autonomic, Type V	Impaired vibratory sensation, Arthropathy, Pain insensitivity, Osteomyelitis, Recurrent fractures...	OMIM:608654
Mazabraud Syndrome	Bone pain, Recurrent fractures	ORPHA:57782
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:171612
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im...	OMIM:614436
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Inabil...	ORPHA:139396
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Cere...	ORPHA:529665
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Optic atrophy, Dilated cardiomyopathy, Flexion contracture, Hype...	OMIM:252011
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Mepan Syndrome	Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait d...	ORPHA:508093
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract...	OMIM:610967
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Papilledema, Osteopenia, Premature thelarche, Sclerotic cranial sutures, Osteolysis ...	ORPHA:371428
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:171863
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins...	ORPHA:88644
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction v...	OMIM:618356
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Ataxia, Myoclonus	OMIM:545000
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ...	OMIM:608627
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis...	ORPHA:478
Pontocerebellar Hypoplasia, Type 4	Polyhydramnios, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Congenit...	OMIM:225753
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Optic atrophy, Myoclonus	OMIM:609056
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Rigidit...	OMIM:612953
Sialidosis Type 2	Ataxia, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Hydrops fetalis, Pedal edema, Ascites	ORPHA:87876
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Hypermanganesemia With Dystonia 1	Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordination, Abnormality of extrap...	OMIM:613280
Aicardi-Goutieres Syndrome 6	Rigidity, Loss of ambulation, Tremor, Dystonia	OMIM:615010
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Hyperte...	OMIM:615954
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis	OMIM:617065
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t...	OMIM:607483
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Delayed s...	ORPHA:404454
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Blep...	ORPHA:101
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl...	ORPHA:206443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Hypertonia, Exaggerated startle response	OMIM:618367
Cystathioninuria	Tremor	ORPHA:212
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Myoclonus	OMIM:204500
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Optic atrophy, Progressive cerebellar ataxia, Chi...	ORPHA:263516
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Recurrent fractures, Spinal cord compression, Bone pain, Papillary ...	ORPHA:319487
Variant Abeta2M Amyloidosis	Spinal cord compression, Reduced left ventricular ejection fraction, Wrist pain, Abnormal autonom...	ORPHA:314652
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Abnormality of the pancr...	OMIM:222470
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Bradykinesia, Gait disturb...	OMIM:615530
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebellar hypoplasia, Dys...	OMIM:619422
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Dysphagia, Mental deterioration, Thrombocytopenia	OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni...	OMIM:253290
Classic Galactosemia	Reduced bone mineral density, Male infertility, Premature ovarian insufficiency, Ataxia, Cryptorc...	ORPHA:79239
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Abnormal vertebral morph...	OMIM:250620
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Lymphedema, Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal...	ORPHA:79279
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Tetrapa...	OMIM:263570
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased serum zinc...	ORPHA:89842
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Abnormal pyrami...	OMIM:614381
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Huntington Disease	Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Developmental And Epileptic Encephalopathy 46	Tremor, Axial hypotonia, Limb hypertonia	OMIM:617162
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Abnormality of the vertebral endplat...	OMIM:166600
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Impaired social interactions	ORPHA:397933
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait...	OMIM:118300
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Delayed skeletal maturation,...	OMIM:601162
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Jo...	OMIM:617664
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Combined Oxidative Phosphorylation Deficiency 37	Progressive neurologic deterioration, Bile duct proliferation, Hypoalbuminemia, Macrovesicular he...	OMIM:618329
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Gerstmann-Straussler Disease	Parkinsonism, Rigidity, Tremor, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Accelerated bone age after puberty, Increased s...	ORPHA:96181
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S...	OMIM:614487
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Arthrogryposis, Distal, Type 2A	Joint dislocation, Polyhydramnios, Knee flexion contracture, Spina bifida occulta, Wrist flexion ...	OMIM:193700
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis	OMIM:300894
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Flexion contracture of fing...	OMIM:609033
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spastic...	ORPHA:542310
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po...	ORPHA:100924
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk...	ORPHA:391428
Dystonia 15, Myoclonic	Dystonia, Writer's cramp, Myoclonus	OMIM:607488
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu...	ORPHA:313772
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Hyperaldosteronism, Familial, Type Iii	Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperkinetic movements, Ataxia	OMIM:271980
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation	OMIM:617235
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Pontocerebellar Hypoplasia Type 4	Polyhydramnios, Olivopontocerebellar hypoplasia, Hypertonia, Myoclonus, Arthrogryposis multiplex ...	ORPHA:166063
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp...	ORPHA:100993
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus	OMIM:619092
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Diabetes mellitus, Fasciculations, Difficulty walking	OMIM:610717
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Rigidity, Spasticity, Hypertonia, Tremor	OMIM:176500
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Solitary Bone Cyst	Abnormal spinal cord morphology, Bone pain, Abnormal form of the vertebral bodies, Pathologic fra...	ORPHA:83468
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Flexion contracture...	OMIM:616271
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus	OMIM:612015
Peho-Like Syndrome	Cerebellar atrophy, Optic atrophy, Myoclonus, Edema	OMIM:617507
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Tre...	OMIM:619737
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru...	OMIM:617093
Hypophosphatasia, Infantile	Craniosynostosis, Polyhydramnios, Vertebral clefting, Increased susceptibility to fractures, Intr...	OMIM:241500
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi...	OMIM:617302
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Gait disturbance, Vertebral compression f...	ORPHA:85193
Valinemia	Hyperkinetic movements	OMIM:277100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Hypoplasia of the pons, Platyspondyly, Cerebellar hypoplasia, Scoliosis, Bow...	OMIM:615220
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Hypertonia, Myoclonus	OMIM:610090
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Spastic paraplegia, Babinski sign, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Joint hypermobility, Joint stiffness, Tremor, Inabilit...	OMIM:617988
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Tremor, Kyphosis, Delayed skeletal maturation, Slurr...	ORPHA:812
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Ankle flexion contracture, Flexion contracture, Hip dislocation, Elbow flexion c...	ORPHA:1143
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Hyperinsulinemia, Gait ataxia, ...	ORPHA:363400
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Spinal cord tu...	ORPHA:93921
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements	OMIM:618374
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Tremor, Generalized joint laxity...	ORPHA:502423
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Palatal tremor	OMIM:203450
Hereditary Hyperekplexia	Joint dislocation, Ataxia, Joint stiffness, Rigidity, Hip dislocation, Hypertonia, Gait disturban...	ORPHA:3197
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis,...	ORPHA:93160
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe...	ORPHA:485350
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto...	ORPHA:14
Superficial Siderosis	Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Inte...	ORPHA:247245
Doors Syndrome	Small cerebellar cortex, Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Optic at...	ORPHA:79500
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness	ORPHA:725
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed...	OMIM:610968
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Facial-ling...	ORPHA:276244
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Edema, Impaired temperature se...	ORPHA:739
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Vertebral wedging, Scoliosis, Bicon...	OMIM:301014
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,...	OMIM:235510
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Ataxia, Tremor, Inability to walk, Delayed skeletal maturation, Limb ataxia, Dys...	OMIM:617675
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Tremor, Abnormal cerebellum morphology, Babi...	ORPHA:447753
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia	OMIM:168600
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Polyhydramnios, Multiple prenatal fractures, Flexion contracture, H...	OMIM:616897
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Telangiectasia of the skin, Tremor, Polycystic ovaries, Gait disturban...	ORPHA:100
Rin2 Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Upper eyelid ede...	ORPHA:217335
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Conjunctival telangiectasia, Tremo...	OMIM:606002
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor...	ORPHA:186
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Ataxia, Tremor, Myoclonus	OMIM:607876
Myopathy With Extrapyramidal Signs	Joint laxity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnorma...	OMIM:615673
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol...	OMIM:617156
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi...	OMIM:615356
Microtriplication 11Q24.1	Speech apraxia, Joint dislocation, Limitation of joint mobility, Genu valgum, Retrocerebellar cys...	ORPHA:289522
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho...	ORPHA:466722
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Pediatric-Onset Graves Disease	Atrial fibrillation, Craniosynostosis, Accelerated skeletal maturation, Tremor, Puberty and gonad...	ORPHA:525731
Pycnodysostosis	Joint laxity, Decreased serum insulin-like growth factor 1, Persistent open anterior fontanelle, ...	ORPHA:763
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Edema, Multiple...	OMIM:312150
Adrenomyeloneuropathy	Female sexual dysfunction, Abnormal libido, Dysesthesia, Atrophy of the spinal cord, Progressive ...	ORPHA:139399
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Neuromyotonia, Fasciculations, Distal sensory impairment	OMIM:137200
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Limb tremor, Myoclonus	OMIM:300699
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations, Kyphoscoliosis	OMIM:271200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Dystonia, Episodic ataxia	OMIM:312170
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor	ORPHA:363717
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia	OMIM:619556
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce...	ORPHA:417
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B...	ORPHA:52368
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Truncal ataxia, Hyperkinetic movements, Scoliosis, Difficulty walking	ORPHA:369847
Beta-Thalassemia Intermedia	Hypoparathyroidism, Osteopenia, Diabetes mellitus, Spinal cord compression, High-output congestiv...	ORPHA:231222
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Thyrocerebrorenal Syndrome	Euthyroid goiter, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Ge...	ORPHA:53
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hepatic fibros...	OMIM:212065
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures	OMIM:615066
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Spasticity, Infantile muscular hypotonia	OMIM:618718
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr...	OMIM:613982
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Ataxia, Recurrent fractures, Impaired pain sensation, Optic...	ORPHA:1764
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Paraparesis, Fractures of the long bones, Bone pain, Ost...	OMIM:602080
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D...	ORPHA:75567
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Tremor, Cryptorchidism, Kyphosis, Gait ataxia, Hypogonadism, Delayed puberty, Decre...	OMIM:300354
Marshall-Smith Syndrome	Craniosynostosis, Accelerated skeletal maturation, Optic atrophy, Reduced bone mineral density, I...	ORPHA:561
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Hypertrophic cardiomyopathy, H...	ORPHA:505248
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly	OMIM:618011
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon...	OMIM:619795
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Microv...	OMIM:212140
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Infantile Systemic Hyalinosis	Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Osteomalacia, Lymphedema, Recurr...	ORPHA:2176
Gaucher Disease Type 3	Increased bone mineral density, Ataxia, Pericardial effusion, Delayed skeletal maturation, Bone p...	ORPHA:77261
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait...	ORPHA:466768
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade...	ORPHA:652
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P...	OMIM:146300
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb...	ORPHA:765
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypotonia, Dysmetria	OMIM:615578
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Tethered cord, Cryptorchidism, Hydrocele testis, Chordee, Scoliosis...	OMIM:619522
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Poor coordination, Gait disturbance, Impaired social interactions, Abnormality of...	ORPHA:544254
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Myoclonus, Dystonia	OMIM:620094
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Cardiomyopathy, Fasci...	ORPHA:329478
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Inability to walk, Facial diplegia, Athetosis, Hyperk...	OMIM:612073
Japanese Encephalitis	Decreased motor nerve conduction velocity, Stiff neck, Genu recurvatum, Tremor, Opisthotonus, Cho...	ORPHA:79139
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability...	OMIM:218000
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun...	ORPHA:356
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity,...	ORPHA:536471
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Accelerated skeletal maturation, Congenital adrenal hyperplasia, Decreased circulating aldosteron...	OMIM:202010
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, C...	OMIM:105210
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Car...	OMIM:617710
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossification, Ap...	ORPHA:2772
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci...	OMIM:105400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Enlargement of the wrists, Delayed...	ORPHA:289157
Wilson Disease	Abnormality of the menstrual cycle, Bone pain, Clumsiness, Joint swelling, Arthritis, Difficulty ...	ORPHA:905
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Abnormality of the kne...	ORPHA:251028
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Developmental And Epileptic Encephalopathy 109	Spasticity, Crouch gait, Myoclonus, Gait ataxia	OMIM:620145
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ...	ORPHA:99965
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Rigidity, Tremor, Progressive extrapyramidal movement disorder, Focal dystonia, C...	ORPHA:199351
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Delay...	ORPHA:77259
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Osteogenesis Imperfecta, Type Ii	Nonimmune hydrops fetalis, Recurrent fractures, Multiple prenatal fractures, Congestive heart fai...	OMIM:166210
Mycetoma	Abnormality of the knee, Osteomyelitis, Osteoporosis, Paraplegia, Abnormal form of the vertebral ...	ORPHA:2583
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b...	ORPHA:2771
Poliomyelitis	Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, ...	ORPHA:2912
Perry Syndrome	Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Spontaneous Periodic Hypothermia	Tremor, Arrhythmia, Ataxia, Gait disturbance	ORPHA:29822
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav...	OMIM:252920
48,Xxyy Syndrome	Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Elbow dislocation, Azoospermia, R...	ORPHA:10
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Gait disturbance, Abnormality of extrapyramidal motor function, Fascicula...	ORPHA:275864
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility	OMIM:147060
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal...	ORPHA:171695
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Adenylosuccinase Deficiency	Cerebellar atrophy, Prominent metopic ridge, Inability to walk, Opisthotonus, Gait ataxia, Myoclo...	OMIM:103050
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir...	ORPHA:90363
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath...	OMIM:619644
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Kyphosis, Osteoporosis, Hypogonadis...	ORPHA:3409
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia	ORPHA:1578
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo...	OMIM:235200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Congenital hip dislocation, Ataxia, Polyhydramnios, Fractures of the long bon...	ORPHA:496641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations	OMIM:616437
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Enlargement of the wrists, Babinski sign, Spastic paraplegia, Reduced bone mineral densit...	ORPHA:83629
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Osteoporosis, Opisth...	OMIM:615851
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus, Goiter	OMIM:274240
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Spasticity, Fasciculations	OMIM:614808
Alg12-Cdg	Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, B lymphocytopenia, H...	ORPHA:79324
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Multiple prenatal fractures, Flexion contracture, Degener...	OMIM:271225
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Knee flexion contracture, Telangiectasi...	OMIM:608799
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Joint stiffness, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:581
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula...	OMIM:224300
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai...	OMIM:607822
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Cardiomyopathy, Ste...	ORPHA:521411
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Avascu...	ORPHA:93315
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Facial pa...	OMIM:259700
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Young-Onset Parkinson Disease	Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Abnormal auto...	ORPHA:2828
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye...	ORPHA:79093
Grange Syndrome	Aortic regurgitation, Hypertension, Increased susceptibility to fractures	ORPHA:79094
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop...	OMIM:611490
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Cryptorchidism, Spastic paraplegia, Optic atrophy, Opisthotonus, ...	OMIM:614969
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Polyhydramnios, Limitation of joint mobility, Abnormality of the elbow, Abno...	ORPHA:1486
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyroid hormone level, ...	OMIM:241530
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Bone pain, Myoclonus, Intention tremor	OMIM:610539
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Congestiv...	ORPHA:354
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss...	OMIM:264700
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Vitamin D-Dependent Rickets, Type 2A	Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss...	OMIM:277440
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Aceruloplasminemia	Abnormal dentate nucleus morphology, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involu...	ORPHA:48818
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Hemiplegia/hemiparesis, Congestive heart failure, Ovarian neoplasm, Reduced ...	ORPHA:137608
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor	OMIM:619790
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Bil...	ORPHA:2298
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im...	OMIM:157640
Posttransplant Acute Limbic Encephalitis	Dystonia, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:163921
Congenital Insensitivity To Pain With Severe Intellectual Disability	Pain insensitivity, Osteomyelitis, Recurrent fractures, Impaired tactile sensation, Congenital bi...	ORPHA:453510
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Optic at...	OMIM:259710
Oncogenic Osteomalacia	Bone pain, Increased susceptibility to fractures, Gait disturbance, Pathologic fracture, Abnormal...	ORPHA:352540
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Delayed skeletal maturation, Cryptorchidism, Abnormal posturing, Pulmonary arterial hypertension	OMIM:614857
Spinal Arteriovenous Metameric Syndrome	Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Congestive heart failure, Bone pain...	ORPHA:53721
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Hyperthyroidism, Osteomalacia, Precocious puberty, Ov...	ORPHA:562
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss...	OMIM:600081
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Polyhydramnios	OMIM:616867
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia	OMIM:607682
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Tremor, Gait ataxia, Hypertonia, Hypothyroidism, Hyperthyroidism, Ataxia, Facial palsy, Di...	ORPHA:254892
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus, Cerebral hemorrhage	ORPHA:324708
Fibrous Dysplasia Of Bone	Hyperthyroidism, Antalgic gait, Precocious puberty in females, Elevated circulating growth hormon...	ORPHA:249
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Polyhydramnios, Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-dis...	ORPHA:500144
Dysplasia Epiphysealis Hemimelica	Recurrent fractures, Tarsal synostosis, Joint stiffness, Accelerated skeletal maturation, Osteoar...	ORPHA:1822
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Neuraminidase Deficiency	Facial edema, Slurred speech, Hydrops fetalis, Dysmetria, Cardiomyopathy, Epiphyseal stippling, M...	OMIM:256550
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Wormian bo...	OMIM:613849
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio...	OMIM:616294
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens...	ORPHA:99857
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Gait imbalance, Inappropriate...	ORPHA:98794
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Pain insensitivity, Ataxia, Osteomyelitis leading to amputation due to slow hea...	OMIM:256810
Progressive Supranuclear Palsy	Rigidity, Tremor, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia	ORPHA:683
Achondrogenesis Type 1A	Recurrent fractures, Hydrops fetalis, Polyhydramnios, Abnormal enchondral ossification	ORPHA:93299
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Xfe Progeroid Syndrome	Ascites, Hypoalbuminemia	OMIM:610965
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Dysosteosclerosis	Increased bone mineral density, Recurrent fractures, Optic atrophy, Hypoplastic vertebral bodies,...	ORPHA:1782
Mucolipidosis Ii Alpha/Beta	Osteopenia, Thoracolumbar kyphoscoliosis, Flat acetabular roof, Lower thoracic interpediculate na...	OMIM:252500
Gaucher Disease	Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Ataxia, Recurrent f...	ORPHA:355
Joubert Syndrome	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Abnormal form of the vertebr...	ORPHA:475
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyo...	ORPHA:445038
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Multiple joint contractures, Ataxia, Inv...	ORPHA:506
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Rigidity, Tremor, Babinski sign, Bradykinesia, Impotence	OMIM:146500
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Tongue fasciculations, Fasc...	OMIM:618065
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal tactile...	OMIM:182410
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnormal form of the verteb...	ORPHA:2078
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial ne...	ORPHA:94080
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Vocal...	ORPHA:99956
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia	ORPHA:1302
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Flexion contracture, H...	ORPHA:682
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures	ORPHA:2324
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Hemimegalencephaly	Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrog...	OMIM:620167
Ddost-Cdg	Tremor, Oromotor apraxia, Generalized hypotonia	ORPHA:300536
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m...	OMIM:614856
Developmental And Epileptic Encephalopathy 23	Hypoplasia of the pons, Myoclonus, Supravalvular aortic stenosis	OMIM:615859
Alexander Disease	Osteopenia, Diabetes mellitus, Ataxia, Facial palsy, Clonus, Hyperlordosis, Tremor, Precocious pu...	ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Hyperki...	OMIM:300243
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab...	ORPHA:101096
Phosphoserine Aminotransferase Deficiency	Cerebellar vermis hypoplasia, Hypertonia, Myoclonus	OMIM:610992
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia	ORPHA:79076
Tetanus	Tachycardia, Stiff neck, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal auton...	ORPHA:3299
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Recurrent fractures, Craniosynostosis, Hypertension, Myoclonus, Delayed puberty	ORPHA:251004
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Recurrent fractures, Goiter	ORPHA:97290
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Flexion contracture, Optic atrophy, Cerebellar hypoplasia, Myoclonu...	OMIM:607196
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Hip dislocation, ...	OMIM:616507
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus	OMIM:618225
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Multiple joint dislocation, Large joint dislocations, Os...	ORPHA:536467
Peho Syndrome	Cerebellar atrophy, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Optic atrop...	OMIM:260565
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parat...	ORPHA:157215
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Hypertrophic cardiomyopathy, ...	OMIM:607426
Isaacs Syndrome	Fasciculations, Distal sensory impairment	ORPHA:84142
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Cervical myelopathy, Tetrapa...	OMIM:617186
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Typhoid	Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Arrhythmia	ORPHA:99745
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Abnormal ce...	ORPHA:70595
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Abnormal form of the vertebral bodies, M...	ORPHA:93399
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphoscoliosis, Recurrent fractures, Inability to walk, Cryptorchidism, Un...	ORPHA:3063
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Scoliosis,...	ORPHA:220497
Brittle Cornea Syndrome	Osteoporosis, Increased susceptibility to fractures, Joint hyperflexibility, Gait disturbance, Pu...	ORPHA:90354
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Abnormal medulla oblongata mo...	OMIM:601992
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Mitral regurgitation,...	OMIM:619167
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog...	ORPHA:297
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements	OMIM:616420
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Chorea, Arthritis, Gait disturbance, Hemiballismus, Fascicu...	ORPHA:3099
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor	OMIM:605355
Familial Expansile Osteolysis	Pathologic fracture, Bone pain, Osteolysis	OMIM:174810
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Osteopetrosis, Autosomal Recessive 9	Papilledema, Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetros...	OMIM:620366
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Wormian bones, Pathologic fracture, Limitation of joint mobility	ORPHA:166277
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Hypoplasia of the pons, Optic atrophy, Myoclonus, Cerebellar hypoplasia,...	OMIM:617669
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of extrap...	OMIM:614299
Scorpion Envenomation	Bundle branch block, Edema, Tremor, Prominent U wave, Priapism, Hemifacial spasm, Ataxia, Myoclon...	ORPHA:466677
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Scoliosis,...	ORPHA:220493
Pituitary Carcinoma	Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho...	ORPHA:300385
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Pain insensitivity, Cerebellar vermis hypoplasia, Genu recurvatum, Cryptorchidism, ...	ORPHA:364028
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Edema, Flexion contracture, Bone pain, Synovitis, ...	ORPHA:77297
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Multifocal Motor Neuropathy	Motor conduction block, Limited wrist extension, Fasciculations	ORPHA:641
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent joint dislocation, Recurrent fractures, Arterial rupture, Reduced bone mineral density,...	OMIM:619115
Severe Congenital Nemaline Myopathy	Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Multiple prenatal fractures, Flexion ...	ORPHA:171430
Classic Phenylketonuria	Tremor, Hypertonia, Hemiplegia, Paraplegia	ORPHA:79254
Xeroderma Pigmentosum, Complementation Group F	Tremor, Flexion contracture, Ataxia, Scoliosis	OMIM:278760
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy...	ORPHA:97279
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Delayed closure of the anterior fontanelle, Decreased serum leptin, Limited...	OMIM:614008
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cryptorchidism, Hypotonia, Hypertonia, Generalized hypotonia	OMIM:608093
Greenberg Dysplasia	Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone mineral density, Hydrops fe...	OMIM:215140
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Choreoacanthocytosis	Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of...	ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Optic atrophy, Myoclonus	OMIM:619057
Keppen-Lubinsky Syndrome	Polyhydramnios, Spastic tetraparesis, Flexion contracture, Opisthotonus, Increased susceptibility...	ORPHA:435628
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration	OMIM:614204
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Dystonia, Ataxia, Incoordination, I...	ORPHA:209905
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Polyhydramnios, Cryptorchidism, Babinski sign, Spastic tetraplegia, Opist...	OMIM:619847
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Scolio...	OMIM:619124
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Wolfram Syndrome 1	Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Optic atrophy, Cardiomyopathy, Hypothyroid...	OMIM:222300
Classic Homocystinuria	Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Hemiplegia...	ORPHA:394
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu...	ORPHA:36238
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Limb joint contracture, Spastic tetraparesis, Ankle flexion contrac...	ORPHA:284417
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Bone pain, Horner syndrome, Hypertension, Myoclonus	OMIM:256700
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Ataxia, Progressive flexion contractures, Chorea, Choreoathet...	ORPHA:522077
Marshall-Smith Syndrome	Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Optic nerve hypo...	OMIM:602535
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Joint hypermobility, Scoliosis, Increased susceptibility to fractures	OMIM:619752
Juvenile Paget Disease	Hypertension, Optic atrophy, Recurrent fractures, Osteoporosis	ORPHA:2801
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Tsh-Secreting Pituitary Adenoma	Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona...	ORPHA:91347
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Angelman Syndrome	Optic disc pallor, Broad-based gait, Ataxia, Precocious puberty in females, Tremor, Inability to ...	ORPHA:72
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Abnormal p...	ORPHA:3452
Gaucher Disease, Type I	Epistaxis, Bone pain, Hypertension, Mitral regurgitation, Aortic valve stenosis, Pulmonary arteri...	OMIM:230800
49,Xxxxy Syndrome	Shyness, Tremor, Cryptorchidism, Elbow dislocation, Pulmonary embolism, Hip dislocation, Azoosper...	ORPHA:96264
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Osteoporosis, Rickets, Dehydration, Myoclonus, Type I diabetes mellitus	OMIM:560000
Lethal Congenital Contracture Syndrome 1	Edema, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryposis multiplex congenita...	OMIM:253310
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,...	OMIM:615349
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal cerebellum morphology, Abnor...	ORPHA:83597
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Polyhydramnios, Trem...	OMIM:300998
48,Xxxy Syndrome	Pulmonary embolism, Tremor, Cryptorchidism, Elbow dislocation, Hip dislocation, Azoospermia, Radi...	ORPHA:96263
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility	OMIM:266265
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Inability to walk, Myoclonus	ORPHA:411986
Neurodevelopmental Disorder With Spasticity And Poor Growth	Generalized dystonia, Ataxia, Clonus, Achilles tendon contracture, Babinski sign, Opisthotonus, K...	OMIM:618076
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hip contracture, Hypoparathyroidism, Osteopenia, Knee flexion contracture, Patholo...	OMIM:156400
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Chorea, Heart murmur, Myoclonus, Pulmonic stenosis, Scoliosis	OMIM:617600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper...	OMIM:613658
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Unilateral Polymicrogyria	Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination,...	ORPHA:268943
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Choles...	OMIM:270400
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Oromandibul...	ORPHA:412217
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior	ORPHA:1020
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Congenital Sialidosis Type 2	Abnormal EKG, Ataxia, Edema, Optic atrophy, Dysmetria, Telangiectasia, Myoclonus, Spasticity, Asc...	ORPHA:93400
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Spastic paraplegia, Babinski sign, Dysmetria, Spasticity	OMIM:618527
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme...	OMIM:203500
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Kyphosis, Congestive heart failure, Unsteady gait, Dystonia, Cholelith...	OMIM:615512
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility	OMIM:619131
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Sandifer Syndrome	Hematemesis, Torticollis, Abnormal posturing	ORPHA:71272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Kyphoscoliosis, C...	OMIM:309583
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Bone pain, Osteoporosis, Osteolysis, Hypotensio...	ORPHA:98850
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Osteolysis	ORPHA:494
Stuve-Wiedemann Syndrome 1	Enlarged joints, Ovoid vertebral bodies, Impaired pain sensation, Elbow flexion contracture, Oste...	OMIM:601559
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Schindler Disease, Type I	Osteopenia, Spasticity, Optic atrophy, Myoclonus	OMIM:609241
Stüve-Wiedemann Syndrome	Osteopenia, Camptodactyly of finger, Recurrent fractures, Impaired pain sensation, Flexion contra...	ORPHA:3206
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Optic atrophy, Contractures of the large jo...	ORPHA:3078
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Inability to...	OMIM:208900
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral density, Scoliosi...	OMIM:112240
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Biconcave vertebral bodies, Wormian bones...	OMIM:617952
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation, Joint hypermo...	OMIM:245600
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Elevated circul...	OMIM:601812
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus	ORPHA:352582
Congenital Disorder Of Glycosylation, Type Iib	Thoracic scoliosis, Optic atrophy, Recurrent fractures, Generalized edema	OMIM:606056
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Spinal cord compression, Radial head sublux...	OMIM:271640
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Foot joint contracture, Tremo...	ORPHA:90321
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d...	OMIM:607459
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Increased bone mi...	ORPHA:79474
Osteosarcoma	Joint swelling, Pathologic fracture, Osteolysis	ORPHA:668
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal EKG, Abnormal central mot...	ORPHA:3385
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Hematochezia, Hypogonadism, Type II diabetes mellitus, Cholelithiasis	ORPHA:79095
Brody Disease	Somatic sensory dysfunction, Flexion contracture, Fasciculations	OMIM:601003
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus, Arrhythmia	ORPHA:168593
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural ...	ORPHA:25
Hajdu-Cheney Syndrome	Osteopenia, Mitral stenosis, Recurrent fractures, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bon...	ORPHA:955
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Tremor, Kyphosis, Joint hyperflexibility, Hypogonadism...	ORPHA:85293
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Neon...	OMIM:605711
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint dislocation, Recurrent fractures, Arterial rupture, Joint hypermobility	OMIM:619120
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical ...	ORPHA:168491
12Q14 Microdeletion Syndrome	Diabetes mellitus, Tremor, Osteopoikilosis, Chiari malformation, Syringomyelia, Scoliosis	ORPHA:94063
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G...	OMIM:618321
Chromosome 18Q Deletion Syndrome	Joint laxity, Broad-based gait, Decreased response to growth hormone stimulation test, Tremor, Cr...	OMIM:601808
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Recurrent fractures	OMIM:618107
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Portal hypertension, ...	ORPHA:1454
Metachromatic Leukodystrophy	Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Neoplasm of the gallbladder,...	ORPHA:512
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Congestive heart failure, Flexion contracture, Cardiomyopathy, Arthr...	OMIM:616866
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Postural tremor, Ataxia, Limb joint contracture, Babinski sign, Flexion contr...	OMIM:301072
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility...	OMIM:259770
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge...	ORPHA:276621
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus	OMIM:616158
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Cerebellar hypoplasia	OMIM:616672
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Bradycardia, Myoclonus	OMIM:619814
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Hypophosphatasia	Recurrent fractures, Craniosynostosis	ORPHA:436
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Osteoporosis, Dysmetria, Athetosis, Hyperkinet...	OMIM:615273
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Recurrent fractures, Platyspondyly, Decreased calvarial ossification, Wormian bones, ...	OMIM:616229
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Ataxia, Supernumerary nipple, Telangiectasia, Gait disturbance, Myoclonus,...	ORPHA:247262
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Sillence Syndrome	Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Int...	ORPHA:3168
Niemann-Pick Disease Type C	Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,...	ORPHA:646
Multiple Myeloma	Osteopenia, Spinal cord compression, Vertebral compression fracture, Bone pain, Paresthesia, Path...	ORPHA:29073
H Syndrome	Diabetes mellitus, Recurrent fractures, Delayed skeletal maturation, Abnormal cardiovascular syst...	ORPHA:168569
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Hypertonia, Myoclonus	ORPHA:79096
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Autoimmune hypoparathyroidism, Abnormal le...	ORPHA:36913
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco...	ORPHA:2050
Menkes Disease	Gastrointestinal hemorrhage, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Chorea, Osteo...	ORPHA:565
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Brittle Cornea Syndrome 2	Gait disturbance, Recurrent fractures, Joint hypermobility	OMIM:614170
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy...	OMIM:610915
Alternating Hemiplegia Of Childhood	Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Prominent metopic ridge, Multiple joint contractures, Opti...	ORPHA:468631
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction...	ORPHA:206436
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Delayed skeletal maturation, Myoclonus	OMIM:619060
Dermatitis Herpetiformis	Bone pain, Recurrent fractures, Edema	ORPHA:1656
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Joint laxity, Osteoarthritis of the small joints of the hand, Atrial fibril...	ORPHA:284984
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Tremor, Inability to walk, Upper limb spasticity, Myoclonus, Scoli...	OMIM:619229
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Tremor, Cryptorchidism, Hypertension, Neonatal death, Arrhythmia, Intention tremor, Hyper...	OMIM:614052
9P13 Microdeletion Syndrome	Joint stiffness, Precocious puberty, Abnormality of cartilage of external ear, Hand tremor, Myocl...	ORPHA:324313
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Stiff neck, Abnormal cerebellum morp...	ORPHA:68
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis	ORPHA:2314
Amyotrophy, Monomelic	Cervical spinal cord atrophy, Fasciculations	OMIM:602440
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait,...	OMIM:614947
Neurofibromatosis Type 1	Ataxia, Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Cryptorchidism...	ORPHA:636
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Myoclonus	OMIM:617290
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Osteopenia, Cerebellar vermis hypoplasia, Ataxia, Tremor, Kyphosis, Spastic d...	OMIM:300966
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:234200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Melas	Hypoparathyroidism, Wolff-Parkinson-White syndrome, Abnormal central motor function, Ataxia, Hypo...	ORPHA:550
Serotonin Syndrome	Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Myoclonus, Hypotension, Abnormal...	ORPHA:43116
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Myopathy, Myofibrillar, 2	Hypertrophic cardiomyopathy, Fasciculations	OMIM:608810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Increased bone mineral density, Kyphosis, Hip dislocation, I...	OMIM:119600
Cleidocranial Dysplasia	Recurrent fractures, Osteoporosis, Genu valgum, Decreased skull ossification, Scoliosis, Wormian ...	ORPHA:1452
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyper...	OMIM:617799
Chédiak-Higashi Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Edema, Epistaxis, Decrease...	ORPHA:167
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased ...	ORPHA:79443
Antley-Bixler Syndrome	Recurrent fractures, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow ankylosis,...	ORPHA:83
Cog8-Cdg	Cerebellar atrophy, Ataxia, Myoclonus	ORPHA:95428
Dpagt1-Cdg	Prolonged QT interval, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to wal...	ORPHA:86309
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures	OMIM:166740
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic rickets	OMIM:163200
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic a...	OMIM:259900
Hamamy Syndrome	Hypoparathyroidism, Osteopenia, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Cry...	OMIM:611174
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Wide cranial sutures, Recurrent fractures, Polyhydramnios, Ovari...	OMIM:618188
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Falls, Ga...	OMIM:601104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Irregular menstruation, Thyroiditis, Gout, Polycystic ovaries, Osteoporosi...	ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Clonus, Dehydration, Osteomalacia, Cryptorchidism, Azoospermia, Joint hyperf...	ORPHA:534
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Cryptorchidism, Tall lumbar vertebral bodies, Osteoporo...	OMIM:102500
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C...	ORPHA:29072
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ...	OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Hypertonia, Myoclonus	OMIM:618240
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro...	OMIM:613388
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shock, D...	OMIM:619424
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Tremor, Bone pain, Reduced bone mineral density, Osteopetr...	ORPHA:667
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration	OMIM:619656
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Scoliosis, Vasculitis in the skin, Joint hypermob...	OMIM:615816
Rothmund-Thomson Syndrome	Osteopenia, Telangiectasia of the skin, Aplasia/Hypoplasia of the patella, Facial edema, Reduced ...	ORPHA:2909
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations	OMIM:619733
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Myoclonus	OMIM:620352
Fatal Familial Insomnia	Ataxia, Abnormal autonomic nervous system physiology, Myoclonus	OMIM:600072
Sialuria	Cholelithiasis, Hyperkinetic movements, Joint hypermobility	ORPHA:3166
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ...	ORPHA:31826
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Unsteady gait, Flexion contracture, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonu...	ORPHA:17
D-Glyceric Aciduria	Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myoclonus, Bradycardia, Spasticity	OMIM:220120
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia	OMIM:613179
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Edema, Abnormal sacroiliac joint morphology, Vasculitis, Cran...	ORPHA:793
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosis	OMIM:239000
Distal Renal Tubular Acidosis	Osteomalacia, Paralysis, Bone pain, Rickets, Dehydration, Reduced bone mineral density, Increased...	ORPHA:18
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture	OMIM:607278
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Tracheomalacia, Paralysis, Osteoporosis, Hypertonia, Bile duct prolif...	OMIM:203700
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Kyphosis, Hip dislocation, Scoliosis, Tr...	ORPHA:140
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Osteogenesis Imperfecta, Type Xx	Wormian bones, Vertebral compression fracture, Multiple prenatal fractures, Kyphoscoliosis	OMIM:618644
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Craniosynostosis, Tremor, Spastic...	ORPHA:2203
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, ...	ORPHA:94090
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization	OMIM:133780
Dent Disease 1	Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ...	OMIM:300009
Osteoglophonic Dysplasia	Osteopenia, Camptodactyly of finger, Craniosynostosis, Cryptorchidism, Increased susceptibility t...	OMIM:166250
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Abnormal cardiac ventricular function, Congestive heart failure, Hip dislocation, J...	ORPHA:90349
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve...	OMIM:216400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Optic atrophy, Recurrent fractures, Rickets	OMIM:268315
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Joint contracture, Myoclonus, Hypertrophic cardiomyopathy, Cerebral edema	OMIM:614462
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Hypogonadism, Decreased testicular size, Ataxia	OMIM:201100
Vici Syndrome	Cerebellar vermis hypoplasia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, A...	OMIM:242840
Nmda Receptor Encephalitis	Ovarian teratoma, Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic ...	ORPHA:217253
Combined Oxidative Phosphorylation Deficiency 11	Polyhydramnios, Cardiomyopathy, Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death	OMIM:614922
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Cranial nerve compression, Optic atrophy, Tetraparesis, Secondary hyperparat...	ORPHA:2785
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Diabetes mellitus, Multiple joint contractures, Tremo...	ORPHA:51
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Myoclonus, Congenital hypothyroidism	OMIM:619609
Mercury Poisoning	Tremor, Dystonia	ORPHA:330021
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Facial edema, Cryptorchidism, Delayed skeletal maturation, Patella...	ORPHA:221016
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypertonia, Myoclonus	ORPHA:289266
Digeorge Syndrome	Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, He...	OMIM:188400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Osteopenia, Joint laxity, Genu recurvatum, Phalangeal dislocation, Craniosynos...	OMIM:130070
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Loeys-Dietz Syndrome 3	Joint laxity, Atrial fibrillation, Protrusio acetabuli, Craniosynostosis, Subarachnoid hemorrhage...	OMIM:613795
Farber Disease	Abnormality of the knee, Abnormality of the wrist, Paraparesis, Abnormality of the elbow, Flexion...	ORPHA:333
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Oligohydramnios	OMIM:611812
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Neutrophilia, Confusion, Leukocytosis, Dilated cardiomy...	ORPHA:3260
Primary Hyperoxaluria	Optic disc pallor, Recurrent fractures, Heart block, Raynaud phenomenon, Arterial occlusion, Gene...	ORPHA:416
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar...	ORPHA:99827
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Spasticity, Myoclonus, Tetraparesis	OMIM:618972
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Cardiac arrest, Edema, Spastic hemiparesis, Dilated cardiomyopathy, Dehydration, Myoclonu...	ORPHA:20
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysi...	ORPHA:79102
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Joint laxity, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscolios...	OMIM:300967
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased serum insulin-like growth factor 1, Ataxia, Abnormal cerebellum morphology,...	ORPHA:77293
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Recurrent fractures, Polyhydramnios, Wrist flexion c...	OMIM:609465
Dyskeratosis Congenita	Neoplasm of the pancreas, Diabetes mellitus, Telangiectasia of the skin, Recurrent fractures, Ost...	ORPHA:1775
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity	OMIM:616640
Williams Syndrome	Osteopenia, Myocardial infarction, Tremor, Periorbital edema, Dysmetria, Abnormal form of the ver...	ORPHA:904
Hallermann-Streiff Syndrome	Recurrent fractures, Cryptorchidism, Congestive heart failure, Reduced bone mineral density, Cere...	ORPHA:2108
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Diabetes mellitus, Cryptorchidism, Optic atrophy, Hypogonadism, Cerebellar hypoplasia...	OMIM:614231
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus, Polyhydramnios	OMIM:612949
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Developmental And Epileptic Encephalopathy 2	Inability to walk, Myoclonus, Scoliosis	OMIM:300672
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Myoclonus, Spastic tetraparesis	OMIM:614261
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity, Dandy...	ORPHA:2752
Aspartylglucosaminuria	Joint laxity, Kyphosis, Delayed skeletal maturation, Spasticity, Platyspondyly, Mitral regurgitat...	OMIM:208400
Neuroleptic Malignant Syndrome	Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho...	ORPHA:94093
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Developmental And Epileptic Encephalopathy 100	Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon...	OMIM:619777
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Dehydration, Reduced bo...	OMIM:619377
Postpoliomyelitis Syndrome	Abnormal joint morphology, Fasciculations	ORPHA:2942
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Protrusio acetabuli, Recurrent fractures, Multiple prenatal fra...	OMIM:610682
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Cerebral palsy, Inability to walk, Congenital hypothyroidism, Myoclonus, Dystonia,...	OMIM:616973
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Raynaud phenomenon, Ab...	ORPHA:289390
Lathosterolosis	Bilobate gallbladder, Osteoporosis, Chiari malformation, Pathologic fracture, Butterfly vertebrae	OMIM:607330
Hyperparathyroidism, Neonatal Severe	Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Recurrent fractures	OMIM:239200
Listeriosis	Somatic sensory dysfunction, Pericarditis, Ataxia, Stiff neck, Osteomyelitis, Tremor, Congestive ...	ORPHA:533
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Tremor, Precocious puberty, Choreoathetosis, Myoclonus, Dystonia, Episodic at...	ORPHA:1934
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Flexion contracture, Agenesis of cerebellar vermis, Ataxia, Cryptor...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation,...	OMIM:309000
Grange Syndrome	Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures	OMIM:602531
Porphyria, Congenital Erythropoietic	Osteopenia, Osteolysis, Cholelithiasis, Vertebral compression fracture, Joint contracture of the ...	OMIM:263700
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Osteoporosis, Adrenal insufficiency, Pathologic fracture	OMIM:307030
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Polyhydramnios, Stillbirth, Dandy-Walker malformation	OMIM:236680
Dent Disease	Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ...	ORPHA:1652
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity, Giant soma...	ORPHA:501
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Tremor, Dilated cardiomyopathy, Difficulty ...	OMIM:164310
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia	OMIM:617248
Mosaic Trisomy 20	Vertebral fusion, Cryptorchidism, Abnormal spinal cord morphology, Kyphosis, Fused cervical verte...	ORPHA:1724
Blue Rubber Bleb Nevus	Pathologic fracture, Intestinal bleeding	OMIM:112200
Pgm3-Cdg	Osteomyelitis, Ataxia, Vasculitis in the skin, Myoclonus, Cortical myoclonus	ORPHA:443811
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus	OMIM:246450
Primary Fanconi Renotubular Syndrome	Osteomalacia, Bone pain, Dehydration, Increased susceptibility to fractures, Hypophosphatemic ric...	ORPHA:3337
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Neutral Lipid Storage Myopathy	Diabetes mellitus, Congestive heart failure, Pineal cyst, Cardiomyopathy, Fasciculations, Difficu...	ORPHA:98908
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Lysinuric Protein Intolerance	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Pulmonary hemorrhage	OMIM:222700
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Prominent metopic ridge, Myoclonus	ORPHA:314655
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Ataxia, Rigidity, Myoclonus, Limb myoclonus	ORPHA:1183
Pmm2-Cdg	Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Abnormal liver parenchyma ...	ORPHA:79318
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Myoclonus	OMIM:614946
Kinsship Syndrome	Osteopenia, Spastic tetraparesis, Hip dislocation, Myoclonus, Scoliosis, Dandy-Walker malformatio...	OMIM:619297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353281
Lathosterolosis	Prominent metopic ridge, Chiari malformation, Myoclonus, Cerebellar cortical atrophy	ORPHA:46059
Lysinuric Protein Intolerance	Osteopenia, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, O...	ORPHA:470
Myoclonic Epilepsy Of Lafora	Gait disturbance, Myoclonus, Apraxia	OMIM:254780
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Olivopontocerebellar hypoplasia, Cryptorchidism, Optic atrophy, Hypertonia...	ORPHA:284339
Tetrasomy 9P	Joint dislocation, Absent gallbladder, Pericarditis, Raynaud phenomenon, Cryptorchidism, Abnormal...	ORPHA:3310
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior...	ORPHA:353277
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Optic atrophy, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst	OMIM:253280
Limb Body Wall Complex	Progressive congenital scoliosis, Abnormal spinal cord morphology, Spina bifida occulta, Spina bi...	ORPHA:2369

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 Glrb

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Glrb.

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

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MGI Allele	Allele Type	Produced
Glrb^{tm42832(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Glrb^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Glrb MGI:95751

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Gross Morphology Embryo E14.5-E15.5

Gross Pathology and Tissue Collection

X-ray

X-ray

Histopathology

X-ray

MicroCT E14.5-E15.5

Eye Morphology

Human diseases caused by Glrb mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data