Gene: Clstn3 MGI:2178323

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Gene Summary

Name:
calsyntenin 3
Synonyms:
CSTN3,  Cst-3,  alcadein-beta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
tremors Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 3.17×10-06
abnormal lung morphology Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal gait Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 4.95×10-05
increased kidney weight Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-08

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Clstn3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clstn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Anteverted nares, Depressed nasal br... OMIM:300660
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor OMIM:300905
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology, Lower limb spasticity, Nephrotic syndrome, Hand tremo... ORPHA:401835
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Broad-based gait OMIM:601238
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Autosomal Spastic Paraplegia Type 72
Postural tremor, Spastic gait, Rigidity, Urinary bladder sphincter dysfunction ORPHA:401849
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Elevated urinary 7-biopterin level OMIM:264070
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Urinary bladder sphincter dysfunction, Tremor, Urinary incontinence, Urinary ... OMIM:600363
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Focal segmental glomerulosclerosis, Action tremor, Nephropathy, Glo... OMIM:254900
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Myoclonus, Hyperac... OMIM:615924
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Melorheostosis With Osteopoikilosis
Multiple lipomas, Complete duplication of the distal phalanges of the hand, Abnormal cortical bon... ORPHA:1879
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Urocanic aciduria, Broad-based gait ORPHA:210128
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Abnormality of the larynx, Blepharospasm, Torticollis, Upper limb postural tremor, M... ORPHA:420485
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Urinary urgency, Parkinsonism, Rigidity OMIM:605909
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Gait disturbance, Urinary incontinence, Lower limb spasticit... ORPHA:100988
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Steppage gait OMIM:618387
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Urinary incontinence, Parkinsonism, Dysmetria, Bab... OMIM:618093
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Difficulty walking, Limb ataxia, Progressive gait ataxia, Oculomotor... ORPHA:284324
Urocanase Deficiency
Tremor, Urocanic aciduria, Ataxia OMIM:276880
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Frequent falls, Difficulty walking, Eyelid myoclonus, Wadd... ORPHA:2590
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Pulmonary hypoplasia, Absence of renal corticomedullary differ... OMIM:602088
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls, Rec... OMIM:159950
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Urinary incontinence, Urinary urgency, U... OMIM:616795
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Adducted thumb, S... OMIM:616897
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Wide nasal bridge, Dysmetria, Anteverted nares, ... OMIM:617810
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, U... OMIM:617225
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Wide nasal bridge, Hyperactivity, Spasticity OMIM:300983
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Abnormality of the urinary system, Aspiration pneumonia, Limb fascicul... ORPHA:90117
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria ORPHA:212
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur, Omphalocele OMIM:601357
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Urinary retention, Babinski... OMIM:616586
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Metaphys... ORPHA:440354
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Abnormal urinary acyl... ORPHA:391417
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity OMIM:261640
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Recurrent respiratory infections, Spasticity ORPHA:33445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Pulmonary hypoplasia, Renal cyst, Pol... OMIM:263200
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign OMIM:609270
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait OMIM:617557
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Hypermanganesemia With Dystonia 1
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Tremor, Ataxia ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Steppage gait, Spasticity OMIM:609260
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Recurrent upper respiratory tract infections, Chorea, Gait dis... ORPHA:225147
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Pulmonary hypoplasia, Enlarged kidney OMIM:615415
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Urinary incontinence,... ORPHA:289560
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Toe clinodactyly, Short foot, Dentinog... ORPHA:166277
Trisomy X
Renal hypoplasia/aplasia, Tremor, Attention deficit hyperactivity disorder, Multicystic kidney dy... ORPHA:3375
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Urinary incontinence, Rigidity OMIM:603472
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Ivic Syndrome
Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar synostosis, Carpal bone... OMIM:147750
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Rigidity OMIM:233910
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... ORPHA:1860
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign, Anteverted nares, Depre... ORPHA:83629
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Urinary incontinence, Babinski sign, Clonus, F... ORPHA:75567
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Urinary bladder sphincter dysfunction, Limb ataxia, Oculomot... OMIM:183090
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Broad nasal tip, Antevert... ORPHA:529665
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Nephritis, Enlarged kidney, Focal segmental glomerulosclerosis, Wide nasal bri... OMIM:617303
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Tracheoesophageal fistula, Enlarged kidney OMIM:314390
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Caffey Disease
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperost... ORPHA:1310
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis ORPHA:330050
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Short nose, Spasticity, Dysmetria, Choreoatheto... OMIM:617988
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... ORPHA:52368
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Proteus Syndrome
Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Hypertrophy of skin of soles, Facial... OMIM:176920
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Difficulty walking, Gait disturbance, Slurre... ORPHA:206443
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepa... ORPHA:363400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Bulbous nose, Hypertonia, Ataxia, Myoclonus, Dysmetria, Intention tremor, Ba... OMIM:616505
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Diaphanospondylodysostosis
Nephroblastomatosis, Short nose, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Trach... OMIM:608022
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Wide nasal bridge,... ORPHA:765
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Parkinson Disease, Late-Onset
Dystonia, Tremor, Resting tremor, Bradykinesia, Urinary urgency, Parkinsonism, Short stepped shuf... OMIM:168600
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Urinary urgency, Parkinsonism, Myoclonu... OMIM:168601
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Pulmonary fibrosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Ster... ORPHA:457240
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Delayed epiphyseal ossification, Me... OMIM:600081
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apraxia, Ataxia, Choreoath... OMIM:208920
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping, Hypospadias ORPHA:544254
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Insulin resistance, Split han... ORPHA:3312
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Hy... OMIM:618060
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Bulbous nose, Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Polycystic k... OMIM:608836
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia, Abnormal pulmonary interstitial morphology, Hepatomegaly, S... ORPHA:99745
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Urinary bladder sphincter dysfunction, Head tremor, Abnormal pyramidal... ORPHA:64753
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement ... OMIM:264700
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Tonne-Kalscheuer Syndrome
Tremor, Micropenis, Spasticity, Wide nasal bridge, Pulmonary hypoplasia, Hypospadias, Prominent n... OMIM:300978
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Sneddon Syndrome
Chorea, Tremor, Hemiparesis, Nephropathy ORPHA:820
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Enlargement ... OMIM:277440
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Hypertonia, Tremor, 3-Methylglutaconic aciduria OMIM:617248
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Abnormal cortical bone morpholo... ORPHA:2484
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... ORPHA:442835
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Recurrent urinary tract infections, Spastic gait, Uppe... ORPHA:99027
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Myoclonus, Prot... ORPHA:251004
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Flexion contracture, Hypoglycemia, Short humerus, Failure to thrive ORPHA:17
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Neuroferritinopathy
Dystonia, Difficulty walking, Palatal myoclonus, Chorea, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Pulmonary hypoplasia, Extrapul... OMIM:200995
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Pulmonary hypoplasia, Polycysti... OMIM:208540
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Resting tremor, Urinary incontinence, Urinary urgency, Spastic gait, Un... ORPHA:458803
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones OMIM:174810
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Sialidosis Type 2
Tremor, Nephropathy, Ataxia, Hepatomegaly, Splenomegaly ORPHA:87876
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Bulbous nose, Spastic diplegia, Broad nasal tip, Anteverted nares, Depressed na... ORPHA:480907
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Sialidosis Type 1
Tremor, Gait disturbance, Slurred speech, Aminoaciduria, Ataxia, Wide nasal bridge, Myoclonus, Ur... ORPHA:812
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Hepatomegaly, Splenomegaly OMIM:201100
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Recurrent respiratory infections, Spasticity ORPHA:100
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Multiple renal cysts, Enlarged kidney, Pleural effusion, Splenomegaly, ... ORPHA:464329
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Abnormal cortical bone morphology, Club... ORPHA:1525
Igg4-Related Kidney Disease
Ureteral obstruction, Abnormal lung morphology, Pleuritis, Hematuria, Acute kidney injury, Inters... ORPHA:449395
Wiedemann-Rautenstrauch Syndrome
Short femur, Hypoplastic ilia, Flexion contracture, Lipoatrophy, Absence of subcutaneous fat, Lar... OMIM:264090
Progressive Supranuclear Palsy
Dystonia, Tremor, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Elevated urinary delta-aminolevulinic acid, Hepatomegaly, ... OMIM:276700
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity OMIM:304700
Perry Syndrome
Dystonia, Tremor, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Enlargement of the ankles, Subperiosteal bone resorption, Rickets, Tibial bowi... ORPHA:289157
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Pollakisuria, Abnormal pyramidal sign, Lower limb hypertonia, Urinary incontinence, Urina... ORPHA:447753
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Tremor ORPHA:79095
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Nipah Virus Disease
Recurrent pharyngitis, Tremor, Myoclonus ORPHA:99825
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Wide nasal bridge, Unsteady gait, Hyperactivity, Antever... ORPHA:1942
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Wide nasal bridge, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Short nose, Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syn... ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Bulbous nose, Hyperactivity, Hypospadias, Micropenis, Depressed nasal bridge OMIM:300354
Intellectual Developmental Disorder, X-Linked 12
Tremor, Microphallus, Gait disturbance, Hyperkinetic movements, Spasticity OMIM:300957
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Urinary incontinence, Cardiomegaly, Paraplegia, Spasticity OMIM:105210
Tetanus
Tremor, Elevated urinary norepinephrine, Hypertonia, Laryngospasm, Spasticity of pharyngeal muscl... ORPHA:3299
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia OMIM:278760
Aceruloplasminemia
Dystonia, Gait ataxia, Tremor, Akinesia, Limb ataxia, Chorea, Blepharospasm, Craniofacial dystoni... ORPHA:48818
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Tremor, Ataxia, Myoglobinuria ORPHA:713
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Parkins... OMIM:614298
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Tremor, Short nose, Wide nasal bridge, Limb tremor OMIM:218000
Hyperlysinemia
Recurrent pneumonia, Tremor, Decreased urine alpha-ketoglutarate concentration, Clumsiness, Poor ... ORPHA:2203
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperg... OMIM:609069
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Umbilical hernia, Generalized osteoporosis, Thin bony cortex, Micrognat... OMIM:617952
East Syndrome
Inability to walk, Difficulty walking, Enuresis, Ataxia, Action tremor, Renal salt wasting, Renal... ORPHA:199343
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Urinary incontinence, Parkinsonism, Fasciculations, Frequent falls ORPHA:329478
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal diaphysis morphology, Thin bony cortex, Short tubular bo... ORPHA:85184
Joubert Syndrome With Renal Defect
Tremor, Anteverted nares, Gait disturbance, Oculomotor apraxia, Ataxia, Nephropathy, Renal insuff... ORPHA:220497
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy ORPHA:276608
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Wiedemann-Rautenstrauch Syndrome
Slender build, Camptodactyly of finger, Hip dysplasia, Short femur, Congenital generalized lipody... ORPHA:3455
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232200
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
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