Gene Summary

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

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 2.71×10-06
decreased spleen weight Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 1.59×10-05
increased kidney weight Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 8.70×10-08
abnormal gait Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-05
abnormal lung morphology Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail 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 0.55% (3 of 541)
aorta 0.0%
bone 0.0%
brain 0.56% (3 of 531)
brainstem 0.37% (2 of 538)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 534)
cerebellum 0.56% (3 of 538)
cerebral cortex 0.37% (2 of 541)
esophagus 1.91% (7 of 366)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 545)
hippocampus 0.55% (3 of 544)
hypothalamus 0.38% (2 of 533)
kidney 3.33% (18 of 540)
large intestine 1.83% (10 of 545)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 541)
lymph node 0.19% (1 of 537)
mammary gland 0.0%
olfactory lobe 0.19% (1 of 531)
oral epithelium 0.0%
ovary 0.18% (1 of 544)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.2% (1 of 497)
peripheral nervous system 0.37% (2 of 535)
peyers patch 0.0%
pituitary gland 0.18% (1 of 542)
prostate gland 2.21% (12 of 544)
skeletal muscle 0.0%
skin 0.19% (1 of 537)
small intestine 1.64% (9 of 548)
spinal cord 0.56% (3 of 536)
spleen 0.56% (3 of 536)
stomach 2.24% (12 of 536)
striatum 0.56% (3 of 535)
testis 0.92% (5 of 544)
thymus 0.0%
thyroid gland 2.93% (16 of 546)
trachea 0.56% (3 of 535)
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 1.05% (5 of 475)
ear 0.21% (1 of 479)
embryo 0.21% (1 of 474)
eye 0.21% (1 of 467)
footplate 0.21% (1 of 479)
forebrain 0.21% (1 of 471)
forelimb 0.21% (1 of 471)
handplate 0.21% (1 of 469)
head 1.04% (5 of 479)
heart 0.22% (1 of 461)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 476)
liver 0.21% (1 of 470)
lung 0.21% (1 of 466)
mandibular process 0.21% (1 of 480)
maxillary process 0.22% (1 of 462)
midbrain 0.21% (1 of 469)
oral cavity 0.21% (1 of 466)
skin 0.21% (1 of 482)
tail 0.21% (1 of 470)
tail somite group 0.21% (1 of 476)

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

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly, Ataxia, Gait disturbance ORPHA:2274
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Hand tremor, Nephrotic syndrome, Lower limb spasticity, Abnormal ... ORPHA:401835
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Flexion contracture, Hypoplasia of the ulna, Fi... OMIM:200700
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance OMIM:300660
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia Type 38
Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Flexion ... OMIM:601560
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Gait disturbance, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Intention tremor, Isometric tremor, Bradykinesia, Ataxia... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Nephrotic syndrome, Proteinuria, Intention tremor, Gait ataxia, Glomerulopathy, Ne... OMIM:254900
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Hepatomegaly, Ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Tr... OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor, Unsteady gait OMIM:616127
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmetria, Truncal ataxia, Falls, M... ORPHA:363710
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Melorheostosis With Osteopoikilosis
Multiple lipomas, Complete duplication of the distal phalanges of the hand, Abnormal cortical bon... ORPHA:1879
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Spastic paraplegia, Lower limb spasticity, Urinary urgency, Urinary bladder sphinct... OMIM:600363
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Rigidity, Hemolytic anemia, Tremor OMIM:615010
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Tremor, Hypertonia OMIM:264070
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Torticollis, Limb ataxia... ORPHA:276193
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb apraxia, Speech aprax... ORPHA:454887
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hepatomegaly, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Incr... ORPHA:93323
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb sp... ORPHA:251282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... ORPHA:314632
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Tremor OMIM:615048
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Urocanic aciduria, Truncal ataxia, Broad-based gait ORPHA:210128
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Loss of... ORPHA:521406
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Short femur, Abnormality... ORPHA:1988
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Urinary incontinence, Oculomotor apraxia, Ataxia, G... OMIM:617145
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Parkinsonism with ... ORPHA:53351
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... ORPHA:101109
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaired tandem gait, Rigidity, Spasticity, G... OMIM:300423
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Migraine, Familial Hemiplegic, 1
Hemiparesis, Hemiplegia, Ataxia, Tremor OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Structural foot deformity, ... ORPHA:564003
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Spinocerebellar Ataxia 12
Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Myoclonus, Tremor OMIM:614018
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Titubation, Intention tremor, Fasciculations,... ORPHA:397946
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Sideroblastic anemia, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysd... OMIM:301310
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis, P... OMIM:615415
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Urinary incontinence, Babinski si... OMIM:618093
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Waddling gait, Inability to walk, Limb myoclonus, Difficulty wa... ORPHA:2590
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tremor OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Steppage gait, Gait ataxia, Tremor OMIM:618387
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Small for gestational age, Short ribs, Decreased fibular diamete... OMIM:616897
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Urinary urgency, Rigidity OMIM:605909
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Tongue fasciculations, Gait disturbance, Tremor ORPHA:276435
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Oculomotor apraxia, Progressive cerebellar ataxia, Progressive gait ataxia, Babinski s... ORPHA:284324
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Urinary urgency, Urinary incontinen... OMIM:616795
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Urocanase Deficiency
Urocanic aciduria, Ataxia, Tremor OMIM:276880
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Recurrent respiratory infections, Tongue fasciculations, Difficul... OMIM:159950
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Cholestasis, Bile duct proliferation, Pancr... OMIM:208540
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... ORPHA:85445
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Spastic tetraplegia, Bradykinesia, Spastic... OMIM:617225
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Inability to walk, Abnormality of the urinary system, Aspiration pneumonia, ... ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Tremor OMIM:614947
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Pneumothorax, Chorea, Hyperkinetic mov... OMIM:619738
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Foot oligodactyly, Short femur, Amelia OMIM:601357
Pelviscapular Dysplasia
Brachydactyly, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Humero... ORPHA:93333
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Unsteady gait, Spasticity, A... OMIM:617435
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hepatomegaly, Steppage gait, Rigidity,... OMIM:613280
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Urinary incontinence, Inabili... OMIM:618877
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:261640
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, To... ORPHA:71517
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... ORPHA:94068
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Inability... ORPHA:3095
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Spastic paraparesis, Elevated urinary 3-hy... ORPHA:391417
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Inability to walk, Gait disturbance, Difficulty walking, Tremor ORPHA:101077
X-Linked Intellectual Disability, Hedera Type
Dysmetria, Action tremor, Frequent falls, Apraxia, Extrapyramidal muscular rigidity, Inability to... ORPHA:93952
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Dysdiadochokinesis, T... OMIM:614831
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Recurrent respiratory infections, Rigidity, Spasticity, Tremor ORPHA:33445
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Spastic Paraplegia 9B, Autosomal Recessive
Urinary retention, Spastic paraplegia, Tremor, Tetraplegia, Spasticity, Gait disturbance, Babinsk... OMIM:616586
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity... OMIM:617303
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Difficulty walking, Tremor ORPHA:306669
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Failure ... OMIM:607143
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Dystonia, Opisthotonus, Generalized dystonia, Oromandibular dystonia,... OMIM:617013
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Proteus Syndrome
Multiple lipomas, Hypertrophy of skin of soles, Mandibular hyperostosis, Facial hyperostosis, Lip... OMIM:176920
Cystathioninuria
Cystathioninuria, Nephrolithiasis, Tremor ORPHA:212
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Unsteady gait, Spasticity, Chorea, Clumsiness, Poo... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Tremor OMIM:618951
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Scissor gait, Spasticity, B... ORPHA:363654
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... OMIM:606693
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal mot... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Dystonia 34, Myoclonic
Hand tremor, Dystonia, Head tremor, Impaired tandem gait, Torticollis, Writer's cramp, Myoclonus OMIM:619724
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... ORPHA:352649
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Abnormality of... ORPHA:970
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Pleural effusi... ORPHA:464329
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Dysmetria, Frequent falls, Hand tremor, Tip-toe gait, Paraparesis, Gait disturban... OMIM:302800
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Adult-Onset Cervical Dystonia, Dyt23 Type
Focal dystonia, Axial dystonia, Head tremor, Craniofacial dystonia, Unsteady gait, Limb tremor, T... ORPHA:420492
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Steppage gait, Spasticity, Babinski sign, Hypertonia OMIM:609260
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Dentinogenesis imperfecta, Abnormal cortical bone morph... ORPHA:166277
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement diso... ORPHA:401768
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Broad-based gait, Tremor OMIM:619470
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Babinski sign, Difficulty walking, Broad-based gait, Tremor ORPHA:477673
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia, Gait disturbance ORPHA:99014
Atelosteogenesis Type I
Brachydactyly, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormality of fibula m... ORPHA:1190
Ivic Syndrome
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... OMIM:147750
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Inability to walk, Gait ataxia, Spasticity, Tremor OMIM:617810
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Nephrotic syndrome, Proteinuria, Anemia, Nephropathy, Gait disturbance, Tremor ORPHA:1192
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Tremor, Unsteady gait, Progressive cerebellar ataxia, Upper motor neuron dysfunction,... ORPHA:137898
Metatropic Dysplasia
Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Hypoplastic cervica... ORPHA:2635
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality, Tremor ORPHA:79234
Neuronal Intranuclear Inclusion Disease
Ataxia, Rigidity, Gait disturbance, Urinary incontinence, Tremor OMIM:603472
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Short greater sciatic notch, Femoral bowing, Micromelia,... ORPHA:1860
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Inability to walk, Difficulty walking, Tremor ORPHA:330050
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Dysdiadochokinesis, Hypertonia, Ataxia, Gait distur... ORPHA:96
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Dystonia, Resting tremor, Parkinsonism, Titubation,... ORPHA:225147
Lymphoid Interstitial Pneumonia
Enlarged kidney, Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmon... ORPHA:79128
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Tremor OMIM:300983
Caffey Disease
Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos... ORPHA:1310
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibr... OMIM:200995
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hepatic steatosis, Hepatomegaly, Ataxia, Limb dystonia, Ga... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Shuffling gait, Parkinsonism, Apraxia, Choreoathetosis, S... OMIM:300055
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Fasciculations, Bradykinesia, Oculomotor apraxia, Progres... OMIM:183090
Saccharopinuria
Cystinuria, Hyperlysinuria, Tremor, Gait ataxia, Citrullinuria, Spastic diplegia ORPHA:3124
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Primary Progressive Freezing Gait
Frequent falls, Shuffling gait, Bradykinesia, Postural tremor, Rigidity, Clonus, Urinary incontin... ORPHA:75567
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Mohr-Tranebjaerg Syndrome
Ankle clonus, Abnormal pyramidal sign, Dystonia, Shuffling gait, Focal dystonia, Generalized dyst... ORPHA:52368
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Large hands, Hip dislocation, Brachydactyl... OMIM:210710
Typhoid
Hypertonia, Splenomegaly, Hepatomegaly, Ataxia, Abnormal pulmonary interstitial morphology, Tremor ORPHA:99745
Peroxisome Biogenesis Disorder 5B
Dysmetria, Ataxia, Unsteady gait, Oculomotor apraxia, Tremor OMIM:614867
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Lower limb spasticity, Broad-based gait, Tremor ORPHA:3077
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Fragile X Tremor/Ataxia Syndrome
Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bradykinesia, Gait atax... OMIM:300623
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Periodic paralys... OMIM:276700
Cln5 Disease
Dysmetria, Inability to walk, Poor gross motor coordination, Ataxia, Unsteady gait, Spasticity, D... ORPHA:228360
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Inabi... OMIM:312080
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Hydronephrosis, Ataxia, Oculomotor apr... OMIM:618060
Parkinson Disease 20, Early-Onset
Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Eyelid apraxia, Tremor OMIM:615530
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor ORPHA:329284
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foo... ORPHA:75508
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Membranous nephropathy, Renal interstitial immunoglobulin deposits, ... ORPHA:449395
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper motor... ORPHA:206443
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ataxia, Nephropathy, Tremor ORPHA:87876
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Tremor, Dysdiadochokinesis OMIM:610185
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Micropenis, Pulmonary fibrosis, Gait disturbance, Upper limb spasticity, Hyperk... ORPHA:457240
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Akinesia, Ataxia, Abnormal vestib... ORPHA:247234
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:102
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Dystonia, Resting tremor, Bradykinesia, Urinary urgen... OMIM:168600
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor coordination, Recurrent hand flapping, Gait disturbance, Hypospadias, Tremor ORPHA:544254
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Ataxia-Telangiectasia
Ataxia, Recurrent respiratory infections, Spasticity, Aplasia/Hypoplasia of the thymus, Gait dist... ORPHA:100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Limb ataxia, ... OMIM:208920
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Urinary urgency, Rigidity, ... OMIM:168601
Caffey Disease
Bowing of the legs, Cortical irregularity, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Ep... ORPHA:251004
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:264700
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Leukocytosis, Splenomegaly, Hepatomegaly, Ataxia, Clon... OMIM:615673
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Diaphanospondylodysostosis
Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lobulation, Nephroblast... OMIM:608022
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Recurrent upper respiratory tract infections, Pneumonia, Spastic diplegia, Autoimmu... OMIM:613179
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Micrognathia, Slender build OMIM:300831
Thalidomide Embryopathy
Insulin resistance, Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morp... ORPHA:3312
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Macrocytic anemia, Tremor OMIM:615578
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Spasticity, Tremor OMIM:617988
Trisomy X
Multicystic kidney dysplasia, Tremor, Renal hypoplasia/aplasia ORPHA:3375
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficulty walkin... ORPHA:206594
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Ataxia, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Decreased hemoglob... ORPHA:713
3-Methylglutaconic Aciduria, Type Viii
Dystonia, 3-Methylglutaconic aciduria, Tremor, Neutropenia, Hypertonia OMIM:617248
Sneddon Syndrome
Chorea, Hemiparesis, Nephropathy, Tremor ORPHA:820
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Craniof... ORPHA:2484
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Pes planus, Short 4th metacarpal, Rhizomelia, Thin bony cortex, Broad thumb... OMIM:619638
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Gait ataxia, Spasticity, Oculomotor apraxia, Difficulty walking, Tremor ORPHA:529665
Waisman Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Cogwheel rigidity OMIM:311510
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Intention tremor, Ataxia, Steppage gait, Gait ataxia, Babinski sign, Myocl... OMIM:616505
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Ataxia, Tremor OMIM:617106
S├ęzary Syndrome
Abnormal lymphocyte morphology, Abnormal pleura morphology, Hepatomegaly, Splenomegaly, Lymphaden... ORPHA:3162
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Aceruloplasminemia
Parkinsonism, Dystonia, Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Ataxi... ORPHA:48818
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:277440
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia OMIM:619092
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Lipid accumulation in hepatocytes, Hepatom... OMIM:608836
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Neuroferritinopathy
Parkinsonism, Dystonia, Resting tremor, Focal dystonia, Blepharospasm, Involuntary movements, Bra... ORPHA:157846
Adult-Onset Autosomal Dominant Leukodystrophy
Action tremor, Urinary urgency, Recurrent urinary tract infections, Clonus, Tremor, Dysmetria, Ga... ORPHA:99027
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:241530
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Flexion contracture, Polydactyly, Failure to thrive, Short humerus, Short femur ORPHA:17
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Gait disturbance, Babinski sign, Tremor ORPHA:83629
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spasticity, Gait dist... ORPHA:765
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Ataxia, Increased urinary O-linke... ORPHA:812
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Leukopenia, Proteinuria, Bone marrow hyp... ORPHA:505248
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Abnormality of... ORPHA:168569
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Spasticity, Tremor OMIM:618718
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Ataxia, Tremor OMIM:619556
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Unsteady gait, Rigidity, Spasticity, Abnormality ... ORPHA:442835
Cranio-Osteoarthropathy
Deviation of finger, Abnormality of the knee, Abnormality of tibia morphology, Clubbing of toes, ... ORPHA:1525
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Spasticity, ... OMIM:614381
Wiedemann-Rautenstrauch Syndrome
Long foot, Flexion contracture, Long toe, Short femur, Lipoatrophy, Reduced subcutaneous adipose ... OMIM:264090
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Tonne-Kalscheuer Syndrome
Micropenis, Broad-based gait, Spasticity, Hypospadias, Pulmonary hypoplasia, Tremor OMIM:300978
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen, Scimitar anomaly, Partial anomalous pulmonar... OMIM:608978
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Tremor OMIM:128100
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Myoclonus, Tremor OMIM:607876
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Glyco... OMIM:300009
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Inguinal hernia, Hypoplastic iliac wi... OMIM:609945
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Akinesia, Limb dystonia, Rigidity, Spasticity OMIM:616840
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ak... OMIM:234200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Sparse bone trabeculae, Enamel hypoplasia, Tibial bowing, ... ORPHA:289157
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Falls, Tremor ORPHA:683
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Horseshoe kidney, Renal malrotation, Hydroneph... OMIM:601186
Perry Syndrome
Parkinsonism, Dystonia, Short stepped shuffling gait, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:168605
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Kinetic tremor, Pancreatic cysts, Chronic pancreatitis, Tubular basement membra... OMIM:613159
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Overlapping fingers, Reduced subcutaneous adipose tissue, Failure to thrive, Diabet... OMIM:609069
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Action tremor, Dystonia, Dysdiadochokinesis, Portal hypertension, Abnormality of th... ORPHA:309854
Nipah Virus Disease
Recurrent pharyngitis, Myoclonus, Tremor ORPHA:99825
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Micrognathia, Thin bony cortex, Umbilical her... OMIM:617952
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Bradykinesia, Ataxia, Poor fine motor coordination, Tremor ORPHA:36387
Neurodegeneration With Brain Iron Accumulation 4
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Spasticity, Babinski sign, Gait disturban... OMIM:614298
Wolfram Syndrome 1
Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Ataxia, Hydroureter, Neurogenic bladd... OMIM:222300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Increased bone mineral density, Osteopenia, Abnormal foot morphology, Broad femoral n... ORPHA:85184
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Tremor, Urinary urgency, Lower limb hy... ORPHA:447753
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Gait disturbance, Microphallus, Hyperkinetic movements, Tremor OMIM:300957
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Ataxia, Spasticity, Hemiparesis, Paraplegia, Cardiomegaly, Tremor OMIM:105210
Perry Syndrome
Abnormality of extrapyramidal motor function, Parkinsonism, Tremor ORPHA:178509
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Periportal fibrosis, Hydronephrosis, Lower limb spasticity,... ORPHA:79328
Wilson Disease
Glycosuria, Dystonia, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hy... OMIM:277900
Wiedemann-Rautenstrauch Syndrome
Thin long bone diaphyses, Osteopenia, 2-3 toe syndactyly, Long toe, Increased subcutaneous trunca... ORPHA:3455
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Fasciculations, Impaired tandem gait, Tremor OMIM:619574
Niemann-Pick Disease Type C
Dystonia, Cataplexy, Tremor, Frequent falls, Axial dystonia, Jaundice, Speech apraxia, Upper moto... ORPHA:646
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Tremor, Gait ataxia, Truncal titubation, Hypertonia OMIM:618056
Triosephosphate Isomerase Deficiency
Cholelithiasis, Dystonia, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Unsteady gait... OMIM:615512
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Fasciculations, Urinary incontinence, Difficulty walking, Tremor ORPHA:329478
Oculodentodigital Dysplasia
Brachydactyly, Clinodactyly, Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial... ORPHA:2710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Dystonia, Inability to walk, Athetosis, Ataxia, Hepatomegaly, Tremor, Speech a... OMIM:615356
Tay-Sachs Disease
Incoordination, Ankle clonus, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fascicul... ORPHA:845
Mohr-Tranebjaerg Syndrome
Spasticity, Dystonia, Tremor OMIM:304700
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Abnormal trabecular bone morphology, Increased bo... ORPHA:289176
Endocrine-Cerebroosteodysplasia