Gene Summary

Name:
calsyntenin 3
Synonyms:
alcadein-beta,  Cst-3,  CSTN3,  Clstn3b

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 2.70×10-06
decreased spleen weight Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 1.55×10-05
abnormal gait Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 3.91×10-05
abnormal lung morphology Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased kidney weight Clstn3tm1b(EUCOMM)Hmgu HOM Early adult 8.59×10-08

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

3 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
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology, Lower limb spasticity, Nephrotic syndrome, Hand tremo... ORPHA:401835
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Urocanic aciduria, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Multiple lipomas, Abnormal cortical bon... ORPHA:1879
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Tremor, Clonus, Spastic... OMIM:600363
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking OMIM:615048
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Urinary incontinence, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturban... OMIM:213600
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Elevated urinary 7-biopterin level OMIM:264070
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Urocanic aciduria, Gait ataxia, Action tremor, Ataxia ORPHA:210128
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Inguinal hernia, Abnormal pelvic girdle bone morph... ORPHA:1988
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Urinary incontinence, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturban... OMIM:617145
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Hepatic bridging fibr... OMIM:616719
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia OMIM:612126
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Structural foo... ORPHA:564003
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Urinary urgency, Rigidity, Dystonia, Parkinsonism OMIM:605909
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Rigidity, Dystonia, Loss of ambulation, Splenomegaly, Thrombocytopenia, Hem... OMIM:615010
Spinocerebellar Ataxia 48
Babinski sign, Urinary incontinence, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism,... OMIM:618093
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Parkinsonism-Dystonia 3, Childhood-Onset
Pneumothorax, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia... OMIM:619738
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Dysdiadochokinesis, Tremor... OMIM:618049
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... ORPHA:56304
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Gait disturbance ORPHA:276435
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased fibular diamet... OMIM:616897
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Urinary incontinence, Tremor, Urinary urgency, Ataxia, Spastic ataxi... OMIM:616795
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Pulmonary hypoplasi... OMIM:615415
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Inability to walk, Truncal ataxia,... OMIM:618877
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Foot oligodactyly, Omphalocele OMIM:601357
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Hepatomegaly, Cirrhosis, Abnormality of extrapyramidal motor functio... OMIM:613280
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,... ORPHA:93333
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Inability to walk, Tremor, Aspiration pneumonia, Abnormality of the urinary ... ORPHA:90117
Spondyloepiphyseal Dysplasia Congenita
Reduced bone mineral density, Abnormal foot morphology, Genu valgum, Small epiphyses, Upper limb ... ORPHA:94068
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Inguinal hernia, Tibial bowing, Bowing of th... OMIM:613848
Hsd10 Disease
Abnormal urinary acylglycine profile, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spas... ORPHA:391417
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus, Recurrent respirato... OMIM:159950
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Pulmonary cyst OMIM:618272
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... ORPHA:3416
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia, Recurrent respiratory infections ORPHA:33445
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short femur, Failure to thrive, Sho... OMIM:607143
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyp... OMIM:176920
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Urinary urgency,... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk, Anemia, Recur... OMIM:617303
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Pleural effusion, Nephropathy, Focal segmental glomeruloscle... OMIM:254900
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Cystathioninuria
Cystathioninuria, Tremor, Nephrolithiasis ORPHA:212
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Glutathionuria
Glutathionuria, Urinary incontinence, Dysdiadochokinesis, Tremor, Action tremor OMIM:231950
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Phenylketonuria
Phenylalaninuria, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Femoral bowing, Fractures of the long bones, Bowing of the long bones... OMIM:602080
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Pleural effusion, Abnormal spleen m... ORPHA:464329
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Urinary incontinence, Progressive cerebellar ataxia, Oc... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly, Dentinogenesis imper... ORPHA:166277
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare... OMIM:302800
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Short long... ORPHA:1190
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Tremor, Gait disturbance, Nephrotic syndrome, Proteinuria, Nephropathy ORPHA:1192
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Truncal ataxia, Poo... ORPHA:137898
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Urinary incontinence, Progressive extrapyramidal muscular rigidity, ... ORPHA:225147
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Tremor, Prolonged neonatal jaundice ORPHA:79234
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Abnormality of the liver OMIM:614307
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Gait disturbance, Paraparesis ORPHA:99014
Neuronal Intranuclear Inclusion Disease
Urinary incontinence, Tremor, Gait disturbance, Rigidity, Ataxia OMIM:603472
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Finger joint contracture, Short femur, Symphalangism of the thumb, Failure to thrive, Increased f... OMIM:620494
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Respiratory tract inf... ORPHA:79128
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Inguinal hernia, Short ribs, Femoral bowing, Short long... OMIM:618188
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi... ORPHA:3095
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Achondroplasia
Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Short ... OMIM:100800
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Urinary incontinence, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic p... OMIM:616586
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm... ORPHA:254881
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Saccharopinuria
Cystinuria, Tremor, Gait ataxia, Hyperlysinuria, Spastic diplegia, Citrullinuria ORPHA:3124
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia,... ORPHA:363400
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary biopterin level, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dys... OMIM:233910
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Urinary incontinence, Difficulty walking, Gait imbalance, Shuffling ... ORPHA:75567
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Pyle Disease
Reduced bone mineral density, Genu valgum, Hypoplastic frontal sinuses, Metaphyseal widening, Met... OMIM:265900
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Urinary incontinence, Resting tremor, Poor fine motor coordination, Dysdiadochokine... OMIM:300623
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Typhoid
Hypertonia, Abnormal pulmonary interstitial morphology, Hepatomegaly, Tremor, Ataxia, Splenomegaly ORPHA:99745
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Polysplenia, Pulmonary hypopla... OMIM:200995
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Hydronephrosis, Ataxia, Abnormal py... OMIM:618060
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural tremor, Dysmetria OMIM:607694
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Tremor, Gait disturbance OMIM:118300
Pelizaeus-Merzbacher Disease
Writer's cramp, Inability to walk, Broad-based gait, Tremor, Intention tremor, Spastic paraplegia... OMIM:312080
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Urinary urgency, Rigidity, Dyston... OMIM:168601
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Parkinsonism ORPHA:3077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, L... OMIM:208920
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Ataxia, Athetosis OMIM:617106
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Sialidosis Type 2
Hepatomegaly, Tremor, Ataxia, Splenomegaly, Nephropathy ORPHA:87876
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Urinary incontinence, Akinesia, Resting tremor, ... ORPHA:247234
Late-Infantile/Juvenile Krabbe Disease
Difficulty walking, Lower limb spasticity, Tetraplegia, Tremor, Upper motor neuron dysfunction, F... ORPHA:206443
Myopathy With Extrapyramidal Signs
Hepatomegaly, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, L... OMIM:615673
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Urinary urgency, Rigidity, Dystonia, Parkinsonism, Short st... OMIM:168600
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi... OMIM:613179
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Unsteady gait, Ataxia, Dysmetria OMIM:614867
Thalidomide Embryopathy
Aplasia/hypoplasia of the femur, Abnormal fibula morphology, Triphalangeal thumb, Radial club han... ORPHA:3312
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypo... OMIM:608022
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne... ORPHA:449395
Ataxia-Telangiectasia
Spasticity, Tremor, Gait disturbance, Ataxia, Lymphopenia, Aplasia/Hypoplasia of the thymus, Recu... ORPHA:100
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:600081
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent vertebra, Inguinal hernia, Tal... OMIM:134780
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonu... OMIM:616505
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Tremor, Gait disturbance, Upper limb spasticity, Pulmonary fibrosis, Micr... ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal, ... OMIM:619638
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Tremor, Methylmalonic aciduria, Dysmetria OMIM:615578
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Osteolytic defects of the phal... ORPHA:2484
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Myoclonus, Membra... ORPHA:251004
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria ORPHA:529665
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Spasticity, Tremor, Dystonia, Choreoathetosis, Horseshoe kidney OMIM:617664
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Rigidity, Abnorma... ORPHA:442835
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:264700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Renal insuffi... ORPHA:713
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip... OMIM:210710
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:277440
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Dentinogenesis imperfe... OMIM:619795
Aceruloplasminemia
Limb ataxia, Akinesia, Hypochromic microcytic anemia, Torticollis, Abnormal pancreas morphology, ... ORPHA:48818
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Cirrhosis, Anemia, Glo... OMIM:276700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Failure to thrive, Short humerus, Flexion contracture, Hypoglycemia ORPHA:17
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Urethral atresia OMIM:314390
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
S├ęzary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Tremor, Splenomegaly, Abnormal ple... ORPHA:3162
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Decreased skull ossification, Abnorm... ORPHA:2097
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Macrovesicular hepatic steatosis, Long-chain... OMIM:608836
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Gait ataxia, Action tremor, Head titubation, Ataxia, Babinski sign, Hypertonia, Tre... ORPHA:99027
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Sialidosis Type 1
Tremor, Gait disturbance, Urinary excretion of sialylated oligosaccharides, Ataxia, Splenomegaly,... ORPHA:812
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Inguinal hernia, Short metacarpal, Camptodactyly, Ul... OMIM:616145
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... ORPHA:765
Familial Expansile Osteolysis
Thin bony cortex, Bowing of the long bones, Osteolysis OMIM:174810
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Inability to walk, Nephrotic syndrome, Bone marrow hypocellularity, Hepa... ORPHA:505248
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Caffey Disease
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... OMIM:114000
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
H Syndrome
Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Lymphadenopathy, Histiocytosis... ORPHA:168569
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Right hemiplegia, Tremor, Fo... OMIM:607426
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Pulmonary edema, Urinary incontinence, Cardiomegaly, Paraplegia, Truncal ataxia, Spa... OMIM:105210
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Meacham Syndrome
Enlarged kidney, Cardiac total anomalous pulmonary venous connection, Accessory spleen, Scimitar ... OMIM:608978
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Deviation of finger, Clubbing of to... ORPHA:1525
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Recurrent lower respiratory tract infections, Inability to walk, R... OMIM:208900
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Bilateral lung agenesis, Pelvic kidney, Pulmonary arter... OMIM:601186
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:300009
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Umbilical herni... OMIM:617952
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Nipah Virus Disease
Tremor, Recurrent pharyngitis, Myoclonus ORPHA:99825
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Hepatomegaly, Difficulty walking, Jaundice, Truncal ataxia, Poor fine m... ORPHA:309854
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Difficulty walking, Fasciculations, Tremor, Frequent falls, Parkinsonism ORPHA:329478
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Hepatomegaly, Difficulty walking, Inability to walk, Chorea, Truncal atax... OMIM:615356
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Hyperkinetic movements, Spasticity, Tremor, Dystonia, Ataxia, Opisth... OMIM:616271
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Tay-Sachs Disease
Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Pr... ORPHA:845
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Urinary incontinence, Spastic dysarthria, Falls, Pollakisuria, Tremo... ORPHA:447753
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Cranial hyperostosis, Palmoplantar keratoderma, Abnormal cortical... ORPHA:2710
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Long foot, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Re... OMIM:264090
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Osteopenia, Congenital generalized lipodystrophy, Long toe, 2-3 toe syndactyly, Hypo... ORPHA:3455
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Polycythemia, Opisthotonus, Methemoglobinemia OMIM:250800
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Clinodactyly of the 5th finger, Inguinal hernia, Short hallux, Short... ORPHA:508488
Alg9-Cdg
Abnormal lung lobation, Enlarged kidney, Hepatomegaly, Torticollis, Lower limb spasticity, Peripo... ORPHA:79328
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Tremor, Megaloblastic anemia, Sideroblastic anemia, Hydronephros... OMIM:222300
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowing, Tibial bowin... ORPHA:289157
Niemann-Pick Disease Type C
Chorea, Limb dystonia, Ataxia, Splenomegaly, Myoclonus, Clumsiness, Jaundice, Axial dystonia, Tre... ORPHA:646
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Neurogenic bladder, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Mucopolysacchariduria, Recurre... OMIM:252500
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Abnormal morphology of the radius,... ORPHA:249
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Oculomotor apraxia, Renal insufficiency, Intrahepatic biliary atresia, T... ORPHA:1454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Lethal Congenital Contracture Syndrome Type 1