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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral 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, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal pulmonary interstitial morphology, Nephrotic syndrome, H... ORPHA:401835
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... OMIM:619902
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus OMIM:600121
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Urocanic aciduria, Broad-based gait OMIM:276880
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Spinocerebellar Ataxia Type 37
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... ORPHA:363710
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis, Complete duplication of the... ORPHA:1879
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait OMIM:617917
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary bladder sphincter dysfunction, Spastic gait, Urinary urgency, Spast... OMIM:600363
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... ORPHA:306692
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Elevated urinary 7-biopterin level, Hypertonia OMIM:264070
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity... OMIM:213600
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Dystonia OMIM:615924
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Urocanic aciduria, Broad-based gait ORPHA:210128
Parkinson Disease 17
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia OMIM:614203
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypop... OMIM:619598
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... ORPHA:521406
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... ORPHA:216873
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Maternal diabetes, Preax... ORPHA:1988
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Aspiration pneumonia, Shuffling gait, Resting tremor, Limb dystonia, Myocl... ORPHA:53351
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxi... OMIM:617145
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Hepatomegaly, Thrombocytopenia, Dystonia,... OMIM:615010
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Inability to walk, Recurrent aspiration pneumonia, Eyelid myoclonus, Clumsiness, ... ORPHA:2590
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... ORPHA:391411
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, Micrognathia, Flat capita... OMIM:147891
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Tremor, Freque... OMIM:616719
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... OMIM:300423
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... ORPHA:564003
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly OMIM:612126
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Babinski sign,... ORPHA:251282
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking OMIM:613608
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... ORPHA:240094
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... ORPHA:397946
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... OMIM:263200
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Tremor, Tongue fasciculation... ORPHA:276435
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Intention tremor, Hypochromic microcytic... OMIM:301310
Spinocerebellar Ataxia 48
Gait ataxia, Urinary incontinence, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor... OMIM:618093
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Myopathy, spheroid body
Tremor, Broad-based gait, Waddling gait OMIM:182920
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking OMIM:614018
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Pulmonary hypoplasia, Absence of renal corticome... OMIM:602088
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Dystonia, Bradykinesia OMIM:605909
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Short ribs, Small for gestational age, Micrognathia, Short... OMIM:616897
Atelosteogenesis Type Ii
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus adduc... ORPHA:56304
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 42
Urinary incontinence, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Urinary urgency, Ata... OMIM:616795
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... ORPHA:79106
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... OMIM:615415
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... OMIM:612067
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Tremor, Diffic... ORPHA:98764
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:213200
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait OMIM:618387
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... OMIM:208540
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Falls, Tremor by anatomical site, Parkinsonism, Rigidity,... ORPHA:99750
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Amelia, Foot oligodactyly, Short femur OMIM:601357
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Pneumothorax, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movem... OMIM:619738
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Inability to walk, Limb fasciculations, Tremor, Abnormality of the urinary ... ORPHA:90117
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Dystonia OMIM:617916
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... ORPHA:93333
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... OMIM:613280
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Femoral bowing, Short femur, Brachydactyly, ... ORPHA:440354
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... OMIM:619911
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Urinary incontinence, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Tr... OMIM:618877
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... ORPHA:3344
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia ORPHA:306669
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia ORPHA:101075
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Short femoral neck, Short long bone, Abnormal foot morpholog... ORPHA:94068
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Gait disturbance, Spastic paraparesis, Tremor, Difficulty walking ORPHA:101077
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Pulmonary cyst OMIM:618272
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia ORPHA:101078
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Thin bony cortex, Genu valgum, Rhizomelia, Micrognathia, Micromelia, S... OMIM:613848
Neuroectodermal Melanolysosomal Disease
Spasticity, Rigidity, Ataxia, Tremor, Hypertonia, Recurrent respiratory infections ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Tremor, Difficulty walking, Frequent falls, Tongue fasciculations, Recurrent respirato... OMIM:159950
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystoni... ORPHA:240085
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Urinary urgency, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxi... OMIM:609270
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Proteus Syndrome
Multiple lipomas, Thin bony cortex, Hypertrophy of skin of soles, Facial hyperostosis, Lipoma, Ca... OMIM:176920
Glutathionuria
Urinary incontinence, Dysdiadochokinesis, Glutathionuria, Tremor, Action tremor OMIM:231950
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Short f... OMIM:607143
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... ORPHA:79263
Cystathioninuria
Tremor, Nephrolithiasis, Cystathioninuria ORPHA:212
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... OMIM:606693
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Inability to walk, Nephrotic syndrome, En... OMIM:617303
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... OMIM:617013
Spinocerebellar Ataxia Type 21
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:619405
Dystonia 34, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Glomerulopathy, Postural tremor, Nephrotic syndrome, Myoclonus, Pleural effusion, Ne... OMIM:254900
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba... ORPHA:352649
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Difficulty w... ORPHA:420492
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... ORPHA:970
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Paget Disease Of Bone 2, Early-Onset
Short femur, Femoral bowing, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Bow... OMIM:602080
Behr Syndrome
Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, Dysmetria, Tremo... OMIM:210000
Dopa-Responsive Dystonia
Urinary incontinence, Inability to walk, Parkinsonism, Rigidity, Poor coordination, Oculogyric cr... ORPHA:255
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T... OMIM:614831
Spinocerebellar Ataxia 2
Urinary incontinence, Spasticity, Fasciculations, Urinary bladder sphincter dysfunction, Dysdiado... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Upper limb undergrowth, Abnormal cortical bone morphology, Toe clinoda... ORPHA:166277
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Paraparesis, Gait disturbance, Incoordination, Hand tremor, Babinski sign, Dysmetri... OMIM:302800
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia ORPHA:139485
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor OMIM:617810
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... ORPHA:464329
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Broad-based gait ORPHA:477673
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Caffey Disease
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperost... ORPHA:1310
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Abnormality of the liver, Hemiparesis, Ataxia, Tremor, Intention tremor OMIM:614307
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Short femur, Femoral bowing, Brachydactyly, Abnormal sacroiliac joint morpholog... ORPHA:1860
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Nephrotic syndrome, Gait disturbance, Nephropathy, Tremor, Hypertonia, Proteinuria ORPHA:1192
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f... ORPHA:1190
Neuronal Intranuclear Inclusion Disease
Urinary incontinence, Rigidity, Gait disturbance, Ataxia, Tremor OMIM:603472
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Short 1st metacarpal, Hypoplasia of th... OMIM:147750
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Poor fine motor coordination, Spastic ataxia, Progressive spasticity, Truncal ataxia, Clumsiness,... ORPHA:137898
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Apraxia, Gait disturbance, Loss of am... ORPHA:3095
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Unsteady gait, Dystonia, B... OMIM:617435
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Urinary incontinence, Chorea, Resting tremor, Parkinsonism, Titubation, Gait disturb... ORPHA:225147
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Obesity Due To Sim1 Deficiency
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance ORPHA:369873
Parkinson Disease 20, Early-Onset
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Gait disturbance, Short stepped shuffling... OMIM:615530
Achondroplasia
Genu varum, Rhizomelia, Short femoral neck, Short ribs, Radial bowing, Ulnar bowing, Short femur,... OMIM:100800
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... ORPHA:96
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Hyperparathyroidism, Transient Neonatal
Short ribs, Short long bone, Short femur, Femoral bowing, Inguinal hernia, Fractured rib, Subperi... OMIM:618188
Autosomal Dominant Cerebellar Ataxia
Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor,... ORPHA:99
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Gait disturbance, Ataxia ORPHA:99014
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Enlarged kidney,... ORPHA:79128
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... OMIM:261640
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Abnormal pyramidal sign, Parkinsonism, Parkinsoni... ORPHA:240071
Pyle Disease
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Metaphyseal... OMIM:265900
Saccharopinuria
Gait ataxia, Hyperlysinuria, Spastic diplegia, Citrullinuria, Cystinuria, Tremor ORPHA:3124
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cirrhosis, Limb dystonia, Myoclonus, Poor motor... ORPHA:363400
Kyphomelic Dysplasia
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... OMIM:211350
Primary Progressive Freezing Gait
Urinary incontinence, Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Babinski sign, D... ORPHA:75567
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Spasticity, Urinary retention, Pseudobulbar paralysis, Gait disturbance, Sp... OMIM:616586
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T... OMIM:128100
Mohr-Tranebjaerg Syndrome
Ankle clonus, Aspiration pneumonia, Shuffling gait, Inability to walk, Abnormal pyramidal sign, A... ORPHA:52368
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pulmonary hypoplasia, Pan... OMIM:200995
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Orofaciodigital Syndrome Vi
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Preaxial foot polydact... OMIM:277170
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612438
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... ORPHA:2204
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... OMIM:607483
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia OMIM:233910
Typhoid
Abnormal pulmonary interstitial morphology, Ataxia, Tremor, Hepatomegaly, Hypertonia, Splenomegaly ORPHA:99745
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Tremor, Dystonia ORPHA:542310
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Loss of ambulation, Tremor, Dystonia OMIM:607694
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Broad-based gait ORPHA:3077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Loss of ambulation,... OMIM:208920
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Myoclonus, Gait disturba... OMIM:168601
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor ORPHA:1170
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Ataxia, Hypertonia OMIM:617106
Waisman Syndrome
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to d... OMIM:311510
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corti... ORPHA:731
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Spastic gait, Spastic tetraplegia, Resting tremor, Parkinsonism, Apraxia, Choreoa... OMIM:300055
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... ORPHA:247234
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Abnormal foot morp... ORPHA:75508
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Spastic diplegia, Clumsiness, Gait disturbance, Upper motor neuron dysfunction, Atax... ORPHA:206443
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Inability to walk, Writer's cramp, Urinary urgency, Choreoathetosis, Ata... OMIM:312080
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:614867
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Short stepped shuffling gait, Tremor, Dy... OMIM:168600
Sialidosis Type 2
Ataxia, Nephropathy, Tremor, Hepatomegaly, Splenomegaly ORPHA:87876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor, Hy... OMIM:618060
Myopathy With Extrapyramidal Signs
Chorea, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis, Ataxia, Tremor... OMIM:615673
Thalidomide Embryopathy
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... ORPHA:3312
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:600081
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Gait disturbance, Ataxia, Lymphopenia, Tremor, Recu... ORPHA:100
4H Leukodystrophy
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... ORPHA:289494
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Dystonia, Intention t... OMIM:619725
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia OMIM:608768
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Nephrog... OMIM:608022
Cln5 Disease
Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Clumsiness, Ataxia, Poor gross... ORPHA:228360
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Ck Syndrome
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Purine Nucleoside Phosphorylase Deficiency
Spastic diplegia, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil a... OMIM:613179
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Broad t... OMIM:619638
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Myoclonus, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, ... ORPHA:251004
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Craniofacial hyperosto... ORPHA:2484
Glycogen Storage Disease Ib
Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Decreased glomerular filtra... OMIM:232220
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, ... OMIM:264700
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Thin bony cortex, Pseudoarthrosis, Slender long bone, Bowing of the lo... OMIM:619795
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia ORPHA:70594
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, ... OMIM:277440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Steppage gait, Hypertonia, Inte... OMIM:616505
Tyrosinemia, Type I
Cirrhosis, Anemia, Enlarged kidney, Hepatocellular carcinoma, Glomerular sclerosis, Hepatomegaly,... OMIM:276700
Aceruloplasminemia
Gait ataxia, Chorea, Hepatic fibrosis, Blepharospasm, Cirrhosis, Akinesia, Parkinsonism, Rigidity... ORPHA:48818
Spontaneous Periodic Hypothermia
Tremor, Gait disturbance, Ataxia ORPHA:29822
Parkinson Disease 21
Rigidity, Tremor, Bradykinesia, Parkinsonism OMIM:616361
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis OMIM:314390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Limb ... OMIM:210710
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Flexion contracture, Short femur, Failure to thrive, Hypoglycemia, Short humerus ORPHA:17
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Limb hypertonia, Rigidity, Myoclonus, Ataxia, Tremor, Difficulty walking, Involuntary... ORPHA:442835
S├ęzary Syndrome
Abnormal pleura morphology, Lymphadenopathy, Tremor, Hepatomegaly, Splenomegaly, Abnormal lymphoc... ORPHA:3162
Grant Syndrome
Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvi... ORPHA:2097
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Methylmalonic aciduria OMIM:615578
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ... ORPHA:449395
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myoclonus, Babinski... ORPHA:282166
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Decreased hemoglobin concentration, Tremor, Renal insu... ORPHA:713
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Gait disturbance, Tremor, Hyperkinetic movements, Pulmonary fibrosis, Micr... ORPHA:457240
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Choreoathetosis, Tremor, Horseshoe kidney, Dystonia OMIM:617664
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... OMIM:241530
Adult-Onset Autosomal Dominant Leukodystrophy
Upper motor neuron dysfunction, Babinski sign, Action tremor, Hypertonia, Gait ataxia, Spasticity... ORPHA:99027
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Myoclonus, Gait disturbance, Inc... ORPHA:812
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Oculomotor apraxia, Dysmetria, Tremor, Difficulty walking ORPHA:529665
Catel-Manzke Syndrome
Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Clino... OMIM:616145
Familial Expansile Osteolysis
Thin bony cortex, Bowing of the long bones, Osteolysis OMIM:174810
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Micrognathia, Metacarpal osteolysis, Pes cavus, Thin... OMIM:259600
Pyruvate Dehydrogenase Deficiency
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T... ORPHA:765
Caffey Disease
Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis, ... OMIM:114000
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Tremor ORPHA:83629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Inability to walk, Nephrotic syndrome, Enlarged kidney, Urinary glycosaminogl... ORPHA:505248
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Nephrotic syndrome, Myoclonus, Ataxia, Glomerular sclerosis, Right hemiplegia, Pancytopen... OMIM:607426
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormal cortical bone morphology, Clubbing of toes, Abnormality of tibi... ORPHA:1525
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia OMIM:300894
H Syndrome
Bronchiectasis, Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Hepatosplenome... ORPHA:168569
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Enlarged kidney, Congenital alveolar dysplas... OMIM:608978
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Blepharospasm, Ataxia, Tremor OMIM:607876
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Resting tremor, Limb dystonia OMIM:616840
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... OMIM:614381
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... OMIM:300554
Glycogen Storage Disease Ia
Enlarged kidney, Hepatocellular carcinoma, Decreased glomerular filtration rate, Hepatomegaly, Pr... OMIM:232200
Gorham-Stout Disease
Abnormal bone ossification, Abnormal finger morphology, Osteolysis involving bones of the upper l... ORPHA:73
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Glycosuria, Tibial b... OMIM:300009
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Tay-Sachs Disease
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Aspiration pneumonia, I... ORPHA:845
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Thin bony cortex, Genu varum, Osteomalacia, Tibial bowing, Sparse bone trabecu... ORPHA:289157
Migraine, Familial Hemiplegic, 2
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor OMIM:602481
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Chronic pancreatitis, Stage 5 chronic kidney disease, Re... OMIM:613159
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Inability to walk, Dysdiadochokinesi... OMIM:208900
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Bilateral lung agenesis, Renal malrotation, Multilobulated spleen,... OMIM:601186
Progressive Supranuclear Palsy
Blepharospasm, Falls, Rigidity, Tremor, Unsteady gait, Dystonia, Bradykinesia ORPHA:683
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Micrognathia, Femoral bowing, Generalized osteoporosis, Bowing of the long bone... OMIM:617952
Perry Syndrome
Akinesia, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, Bradykinesia OMIM:168605
Wolfram Syndrome 1
Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sideroblastic anemia, Ataxia, Tremor, Thro... OMIM:222300
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Spasticity, 3-Methylglutaconic aciduria, Myoclonus, Choreoathetosis, Ataxia, Hepatic ... OMIM:616271
Oculodentodigital Dysplasia
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Micrognath... ORPHA:2710
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Abnormal pyramidal sign, Pollakisuria, Spastic gait, Falls, Spastic dysarth... ORPHA:447753
Wiedemann-Rautenstrauch Syndrome
Genu varum, Flexion contracture, Hypoplastic ilia, Small for gestational age, Reduced subcutaneou... OMIM:264090
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Abnormal foot ... ORPHA:85184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Chorea, Inability to walk, Truncal ataxia, Ataxia, Hepatic steatosis, Tremor, Difficulty walking,... OMIM:615356
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Spasticity, Hemiparesis, Ataxia, Paraplegia, Tremor, Cardiomegaly OMIM:105210
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Short femur OMIM:617798
Alg9-Cdg
Hypoplasia of the bladder, Hepatic cysts, Periportal fibrosis, Enlarged kidney, Torticollis, Abno... ORPHA:79328
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Slender build, Hypoplastic ilia, Reduced subcutaneou... ORPHA:3455
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, ... ORPHA:2839
Triosephosphate Isomerase Deficiency
Spasticity, Prolonged neonatal jaundice, Hemolytic anemia, Normocytic anemia, Jaundice, Chronic h... OMIM:615512
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spasticity, Neurogenic bladder, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor OMIM:618527
Fibrous Dysplasia Of Bone
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... ORPHA:249
8Q24.3 Microdeletion Syndrome
Short 5th finger, Short middle phalanx of the 5th finger, Small for gestational age, Hip dysplasi... ORPHA:508488
Niemann-Pick Disease Type C
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Hepatosplenomegaly, Axial dystonia, Fre... ORPHA:646
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormal hip bone morphology, Abnormal cortical bone morphology, Slender long bone ORPHA:1486
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Oculomotor apraxia, Neopla... ORPHA:1454
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Recurrent bronchitis, Recurrent pneumonia, Mucopolysacchariduria, ... OMIM:252500
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Gait disturbance, Ataxia, Giant neutrophil granules, Lymphadenopath... OMIM:214500
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular aden... ORPHA:79259
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... OMIM:274150
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Spasticity, Blepharospasm, Abnormal pyramidal sign, Acanthocytosis, Akinesi... OMIM:234200
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Rigidity, Limb dystonia, Poor motor coordination, Ataxia, Tremor, Glutaric aciduria, Athe... ORPHA:25
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Urinary incontinence, Tip-toe gait, Abnormal gallbladder morphology,... ORPHA:512
Mirage Syndrome
Leukopenia, Anemia, Aspiration pneumonia, Microphallus, Recurrent urinary tract infections, Lymph... OMIM:617053
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... OMIM:130650
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal agenesis,... OMIM:306955
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... OMIM:618056
Hyperlysinemia
Hyperlysinuria, Tip-toe gait, Neck hypertonia, Spastic diplegia, Clumsiness, Poor motor coordinat... ORPHA:2203
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Abnormality of the lymphatic system ORPHA:276280
Autosomal Recessive Hypophosphatemic Rickets