Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sptbn2 MGI:1313261

Gene Summary

Name:

spectrin beta, non-erythrocytic 2

Synonyms:

Spnb3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating creatine kinase level	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.32×10^-06
increased circulating phosphate level	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.23×10^-05
decreased hemoglobin content	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.53×10^-05
short tibia	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.08×10^-06

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)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	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)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	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)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	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)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	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)

No Embryo expression data was found for this gene.

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%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Sptbn2 mutations

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

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

Human diseases associated with Sptbn2 (4 diseases)
Human diseases predicted to be associated with Sptbn2 (885 diseases)

The table below shows human diseases associated to Sptbn2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403

The table below shows human diseases predicted to be associated to Sptbn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Angelman syndrome (Type 1)	EEG abnormality, Truncal ataxia	DECIPHER:4
Angelman syndrome (Type 2)	EEG abnormality, Truncal ataxia	DECIPHER:54
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Developmental Delay With Dysmorphic Facies And Dental Anomalies	EEG abnormality, Spasticity, Ataxia	OMIM:619228
Megalencephaly With Dysmyelination	Spasticity, Ataxia, EEG with photoparoxysmal response	OMIM:249240
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low...	OMIM:615625
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus	OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG...	OMIM:600143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s...	OMIM:162350
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy...	ORPHA:79445
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor...	OMIM:618876
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 27	Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Ab...	ORPHA:101007
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten...	ORPHA:308
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,...	OMIM:614322
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking	OMIM:616330
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure	OMIM:615705
Ceroid Lipofuscinosis, Neuronal, 11	Generalized myoclonic seizure, Seizure, Cerebellar atrophy, Ataxia	OMIM:614706
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbanc...	OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l...	OMIM:204500
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Dystonia 23	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Autosomal Spastic Paraplegia Type 72	Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles	ORPHA:401849
Episodic Ataxia, Type 9	Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ...	OMIM:618924
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ...	OMIM:619073
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Cerebral degeneration, Ataxia	OMIM:260970
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul...	ORPHA:599373
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity	ORPHA:101075
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa...	OMIM:615924
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga...	OMIM:616127
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, EEG abnormality, Dystonia	OMIM:617836
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance	ORPHA:101078
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon...	OMIM:618412
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Seizure, Spasticity, Large for gestational age	ORPHA:356996
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes	OMIM:614018
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ...	ORPHA:101112
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi...	ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D...	ORPHA:228360
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the...	OMIM:609161
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Hand tremor...	ORPHA:352675
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia,...	OMIM:617916
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vi...	OMIM:607565
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ...	OMIM:117360
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Spinocerebellar Ataxia 48	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Cachexia, Parkinsonism, Tremor, Chore...	OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Cerebellar vermis hypoplasia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig...	ORPHA:98759
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Slender build	OMIM:617709
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, EEG abnormality, Neurodegeneration	OMIM:610951
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:3115
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cataract-Ataxia-Deafness Syndrome	Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia	ORPHA:1368
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Cerebellar hypoplasia, Obesity	OMIM:620270
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe...	ORPHA:314603
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer...	OMIM:607346
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Decreased nerve conduc...	ORPHA:2932
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy	OMIM:618501
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia	OMIM:612126
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Ataxia, Myoclonus, Interictal epileptiform activity, EEG with ...	OMIM:254800
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond...	ORPHA:65684
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypsarrhythmia	OMIM:619561
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer...	ORPHA:98
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De...	OMIM:619279
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi...	OMIM:618279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Atax...	OMIM:607250
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ...	OMIM:617665
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi...	OMIM:302800
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, EEG abnormal...	OMIM:606777
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l...	ORPHA:100989
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cereb...	ORPHA:263516
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Seizure...	ORPHA:248111
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo...	OMIM:224050
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta...	OMIM:103580
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction...	ORPHA:99014
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc...	ORPHA:90117
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp...	OMIM:619301
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hypophosphatemic Bone Disease	Hypophosphatemia, Bowing of the legs	OMIM:146350
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd...	OMIM:612462
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk...	ORPHA:101077
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D...	OMIM:614487
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Seizure, Gait disturbance, Obesity	ORPHA:436141
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R...	OMIM:607136
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening	OMIM:617994
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to wal...	ORPHA:330050
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, P...	ORPHA:280234
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c...	ORPHA:206594
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Hype...	OMIM:609260
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para...	ORPHA:100988
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Spastic p...	OMIM:614409
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Cerebell...	OMIM:226750
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop...	OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Nephronophthisis 15	Seizure, Cerebellar vermis hypoplasia, Obesity	OMIM:614845
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decre...	OMIM:614559
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista...	OMIM:270685
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Impaired vibratio...	OMIM:159550
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst...	ORPHA:280219
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa...	OMIM:615889
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se...	OMIM:618917
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s...	OMIM:241410
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic...	ORPHA:352582
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,...	OMIM:180800
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spasti...	ORPHA:313772
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal...	OMIM:208920
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Anem...	OMIM:127000
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Episodic Ataxia, Type 5	Ataxia, EEG with generalized spikes, Myoclonus, Truncal ataxia, Episodic ataxia, EEG with spike-w...	OMIM:613855
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurre...	ORPHA:98755
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Narcolepsy Type 1	Cataplexy, Slurred speech, Obesity	ORPHA:2073
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:183090
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus, Interictal epileptiform activity	OMIM:615400
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hypoplasia, Diffi...	ORPHA:529665
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia, Cerebral cortical atrophy	OMIM:300983
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr...	OMIM:618012
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri...	ORPHA:98761
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I...	OMIM:617166
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Brain atrophy, Cer...	ORPHA:306669
Huntington Disease-Like 3	Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra...	OMIM:604802
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Seizure, Diffic...	ORPHA:280763
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,...	OMIM:611390
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait...	OMIM:118300
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G...	OMIM:618170
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizu...	OMIM:271980
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr...	OMIM:617435
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Lo...	OMIM:270550
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G...	OMIM:618877
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Obesity, Seizu...	OMIM:616756
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Bowing of the legs	ORPHA:89937
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Hypocalcemic seizures, Hy...	ORPHA:79444
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Joubert Syndrome 32	Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Tall stature	OMIM:617757
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar...	OMIM:620028
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Hydroxyprolinemia, Lateral femoral bowing, Hyperphosphat...	OMIM:239000
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Cone-shaped epi...	OMIM:101800
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo...	ORPHA:391417
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz...	ORPHA:382
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ...	OMIM:607694
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Sanjad-Sakati Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio...	OMIM:604484
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen...	OMIM:616586
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere...	ORPHA:442835
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age	OMIM:240900
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu...	ORPHA:2590
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Pseudohypoparathyroidism Type 1B	Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp...	ORPHA:94089
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co...	OMIM:607454
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co...	OMIM:241530
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Anemia, Cortical thickening of long bone diap...	ORPHA:93325
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age	OMIM:256450
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ...	ORPHA:282166
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di...	OMIM:616505
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,...	ORPHA:13
Bardet-Biedl Syndrome 10	Seizure, Obesity	OMIM:615987
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Autism, Susceptibility To, X-Linked 6	Seizure, Obesity	OMIM:300872
Pseudohypoparathyroidism Type 1A	Calcinosis, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Hyp...	ORPHA:79443
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vi...	OMIM:606002
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300554
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor...	ORPHA:289494
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Overweight, Tremor, Seizure, Hyperkinetic movements, Gait disturb...	ORPHA:457240
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in th...	ORPHA:352641
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia	OMIM:193100
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste...	ORPHA:98760
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal dystonia, Spastic dysarthria, P...	ORPHA:447757
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:607734
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hy...	OMIM:612164
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus...	OMIM:159950
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa...	ORPHA:329284
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Hypophosphatemia	ORPHA:2611
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy	OMIM:619092
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Obes...	ORPHA:464282
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina...	ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal chondrodyspla...	OMIM:156400
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:277440
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Mehmo Syndrome	Small for gestational age, Spastic tetraparesis, Inability to walk, Babinski sign, Obesity, Gait ...	OMIM:300148
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia	OMIM:619556
Hernández-Aguirre Negrete Syndrome	Seizure, Obesity	ORPHA:2139
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Tibial Hemimelia	Absent tibia	OMIM:275220
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Seizure, Hyperto...	OMIM:614066
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, EEG abnormality, Brain atrophy, Spasticity	OMIM:618718
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Bab...	OMIM:601162
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia	OMIM:619422
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal...	ORPHA:683
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Neuroferritinopathy	Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Parkinsonism, Writer's cram...	ORPHA:157846
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Spastic tetraparesis	OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Focal EEG discharges with ...	ORPHA:3077
Hypocalcemic Vitamin D-Resistant Rickets	Genu varum, Genu valgum, Hypocalcemia, Abnormal hip bone morphology, Hypophosphatemia, Abnormal m...	ORPHA:93160
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ...	OMIM:604360
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Seizure	OMIM:620065
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Hypert...	OMIM:619854
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Intellectual Developmental Disorder, Autosomal Recessive 46	Seizure, Ataxia, Large for gestational age	OMIM:616116
Microduplication Xp11.22P11.23 Syndrome	Seizure, Obesity	ORPHA:217377
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Thrombocytopenia, Hypophosphatemia, Talipes e...	OMIM:619743
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300009
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Generalized myoclonic seizure, Seizure, Cerebellar hypoplasia, Obesity	ORPHA:352530
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para...	ORPHA:329308
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer...	OMIM:617710
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De...	ORPHA:289157
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure, Obesity	OMIM:613886
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia	OMIM:206700
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer...	ORPHA:95433
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum...	OMIM:618056
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Hypophosphatemia, Anemia	OMIM:239200
Rafiq Syndrome	Ataxia, Obesity, Seizure, Truncal obesity, Cerebellar hypoplasia	OMIM:614202
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn...	ORPHA:1942
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Developmental And Epileptic Encephalopathy 46	Tremor, Hypsarrhythmia, Cerebral atrophy, Limb hypertonia	OMIM:617162
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramida...	ORPHA:447753
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia	OMIM:312170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ...	OMIM:615673
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation	ORPHA:544254
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul...	OMIM:618124
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, A...	ORPHA:163681
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D...	ORPHA:75567
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr...	ORPHA:1192
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tet...	OMIM:613744
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia	OMIM:300946
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ...	OMIM:168600
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Seizure, Obesity	OMIM:618725
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Baralle-Macken Syndrome	Inability to walk, Focal-onset seizure, Spasticity, Obesity	OMIM:619255
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Riboflavin Transporter Deficiency	Tremor, Cerebral cortical atrophy, Ataxia, Myoclonus	ORPHA:97229
Sialidosis Type 1	Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, EEG abnormality, Gait distur...	ORPHA:812
Oculopharyngodistal Myopathy 3	Tremor, Ataxia	OMIM:619473
Aceruloplasminemia	Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak...	ORPHA:48818
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno...	ORPHA:89936
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Seizure, Broad-based gait, Ataxia, Obesity	ORPHA:411515
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ...	OMIM:617988
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Luscan-Lumish Syndrome	Slurred speech, Obesity, Seizure, Chiari malformation, Overgrowth	OMIM:616831
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Seizure, Gait disturbance, Increased body weight, Hand tremor	ORPHA:589905
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Seizure, Increased body weight	ORPHA:276608
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Ataxia-Oculomotor Apraxia Type 4	Oculomotor apraxia, Somatic sensory dysfunction, Ataxia, Obesity	ORPHA:459033
Laurence-Moon Syndrome	Spastic paraplegia, Ataxia, Obesity	OMIM:245800
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic...	OMIM:616840
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance	ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Abnormality of per...	ORPHA:466768
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Ataxia-Telangiectasia	Tremor, Spasticity, Ataxia, Gait disturbance	ORPHA:100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Babinski s...	OMIM:615398
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ...	ORPHA:845
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy...	ORPHA:314404
Xeroderma Pigmentosum, Complementation Group F	Tremor, Ataxia, Brain atrophy	OMIM:278760
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG abnormality, Myoclonu...	ORPHA:98794
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph...	OMIM:260400
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai...	OMIM:617186
Joubert Syndrome 39	Overweight, Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia	OMIM:619562
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi...	ORPHA:289176
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,...	ORPHA:99956
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ...	OMIM:607426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent...	OMIM:254900
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Splenomegal...	ORPHA:3035
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu...	OMIM:601104
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebell...	OMIM:620327
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet...	ORPHA:25
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Micrognathia, Short toe, Talipes equinovarus, HbH hemoglobin	ORPHA:98791
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyperkinetic...	OMIM:616271
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Tremor, Decreased nerve conduction velocity, Fasciculations, Difficulty walking, Fr...	ORPHA:329478
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban...	ORPHA:512
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Elevate...	ORPHA:1652
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Hypoglycemic seizures, Large for gestational age	ORPHA:293964
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Obesity, Chiari type I malformation, Seizure, Choreoathetosis, Failure to thrive,...	ORPHA:261197
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Rabin-Pappas Syndrome	Failure to thrive in infancy, Hypoplasia of the pons, Obesity, Chiari type I malformation, Seizur...	OMIM:620155
Congenital Myopathy 9A	Tongue fasciculations, Obesity, Akinesia	OMIM:618822
Japanese Encephalitis	Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Paraly...	ORPHA:79139
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia	ORPHA:220497
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
X-Linked Intellectual Disability, Shashi Type	Seizure, Obesity	ORPHA:85286
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, EEG with burst suppression, Hypsarrhythmia,...	ORPHA:1934
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia	ORPHA:475
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Wolfram Syndrome 1	Tremor, Ataxia, Cerebral atrophy	OMIM:222300
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Splenomegaly, Abnormal epiphysis morphology, Hypocalcemia, Hypophosphat...	ORPHA:667
Insulinoma	Tremor, Increased body weight, Seizure, Paresthesia, Abnormality of pain sensation	ORPHA:97279
Septo-Optic Dysplasia Spectrum	Aplasia/Hypoplasia of the cerebellum, Seizure, Obesity, Hemiplegia/hemiparesis	ORPHA:3157
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Hypophosphatemia, Long hallux, Brachydactyly	OMIM:259775
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia	ORPHA:220493
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr...	ORPHA:2203
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Smith-Magenis Syndrome	Seizure, Increased body weight, Impaired pain sensation	OMIM:182290
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Ataxia	ORPHA:79095
Mccune-Albright Syndrome	Pancytopenia, Abnormal femur morphology, Hypophosphatemia	ORPHA:562
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesity, Seizure, Gait disturba...	ORPHA:2822
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal...	ORPHA:646
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Large for gestational age, Gait ataxia, Seizure, Disproportionate tall statur...	OMIM:617011
Joubert Syndrome 8	Oculomotor apraxia, Hypertonia, Ataxia, Obesity	OMIM:612291
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ...	ORPHA:2131
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A...	OMIM:614947
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Seizure, Increased body weight, Large for gestational age	ORPHA:263455
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Metaphyseal widening, Reduced blood urea nitrogen, Genu valgum, Hypop...	OMIM:219800
Chediak-Higashi Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Neurodegeneration	OMIM:214500
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Micrognathia, Hip dislocation, Genu valgum, Anemia, Hypokalemia, Abn...	ORPHA:534
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Seizure, Increased body weight	OMIM:300860
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Micrognathia, Short thumb, Partial d...	ORPHA:124
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, P...	OMIM:105650
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Wilson Disease	Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive	ORPHA:905
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Micrognathia	OMIM:617101
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Disproportionate tall sta...	ORPHA:457359
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Coxa valga, Absent frontal sinuses, Tapered finger, Reduced alpha/beta synthesis ratio, Hypochrom...	OMIM:301040
Narcolepsy 7	Cataplexy, Obesity	OMIM:614250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Sotos Syndrome	Poor coordination, Increased body weight, Seizure, Overgrowth, Tall stature	OMIM:117550
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, Hypsarrhythmia, Hype...	ORPHA:86309
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
6Q Terminal Deletion Syndrome	Obesity, Dysmetria, Gait ataxia, Seizure, Cerebellar hypoplasia, Failure to thrive	ORPHA:75857
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Talipes equinovarus, Clinodactyly of the 5th finger, Anemia, Brachydactyly	ORPHA:847
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Increased body weight, Seizure, Abdominal obesity, Failure to thrive	ORPHA:398069
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Abdominal obesity, Increased body weight	ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Hellp Syndrome	Increased body weight	ORPHA:244242
Cushing Disease	Truncal obesity, Abdominal obesity, Increased body weight	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Truncal obesity, Abdominal obesity, Increased body weight, Weight loss	ORPHA:99889
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sptbn2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sptbn2.

No publications found that use IMPC mice or data for Sptbn2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sptbn2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sptbn2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sptbn2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Sptbn2 MGI:1313261

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Sptbn2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data