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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
decreased hemoglobin content	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.53×10^-05
increased circulating creatine kinase level	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.33×10^-06
increased circulating phosphate level	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.23×10^-05
short tibia	Sptbn2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.08×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

4 Images

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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 (895 diseases)

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

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata...	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	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop...	ORPHA:98765
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Angelman syndrome (Type 1)	Truncal ataxia, EEG abnormality	DECIPHER:4
Angelman syndrome (Type 2)	Truncal ataxia, EEG abnormality	DECIPHER:54
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Spinocerebellar Ataxia, X-Linked 2	Abnormality of extrapyramidal motor function, Ataxia	OMIM:302600
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Tremor, Ataxia	OMIM:213000
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Megalencephaly With Dysmyelination	Spasticity, EEG with photoparoxysmal response, Ataxia	OMIM:249240
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Spasticity, EEG abnormality, Ataxia	OMIM:619228
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Epilepsy, Progressive Myoclonic 7	EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ...	OMIM:600143
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Seizure, Chiari type I malformation, Babinski sign, Impai...	OMIM:619742
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d...	ORPHA:363710
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Hydrocephaly-Cerebellar Agenesis Syndrome	Cerebellar agenesis, Ataxia	ORPHA:1397
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyrami...	OMIM:162350
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu...	OMIM:618876
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten...	ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Autosomal Recessive Spastic Paraplegia Type 27	Spastic paraplegia, Abnormality of somatosensory evoked potentials, Babinski sign, Dysdiadochokin...	ORPHA:101007
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Hyperphosphatemia, Brachydactyly, Hypocalcemia	OMIM:603233
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr...	ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Myasthenic Syndrome, Congenital, 18	Difficulty walking, Fatigable weakness, Ataxia	OMIM:616330
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic...	OMIM:611726
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone...	OMIM:618618
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait	OMIM:615705
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials, Dysesthesia, Abnormal cerebellum morphology, Po...	OMIM:608984
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:614706
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:614322
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Ataxia With Fasciculations	Fasciculations, Ataxia	OMIM:108700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ab...	OMIM:256731
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Bilateral ...	OMIM:616230
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl...	OMIM:613608
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis	OMIM:125370
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia	OMIM:611694
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto...	OMIM:614860
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem...	ORPHA:98763
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Cerebral atrophy, Abnormal nervous system electrophysiology, Myoclonus, Increased extrane...	OMIM:204500
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Clumsiness, Cerebellar atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Autosomal Spastic Paraplegia Type 72	Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity	ORPHA:401849
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Cerebellar edema, Tonic seizure, Bilateral tonic-clonic seizure, Status...	OMIM:618924
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab...	OMIM:607317
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Vitamin D-Dependent Rickets, Type 3	Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the...	OMIM:619073
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Cerebral degeneration, Ataxia	OMIM:260970
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext...	OMIM:615362
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax...	ORPHA:599373
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101075
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst...	OMIM:128230
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ...	ORPHA:93952
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Tremor, Distal sensory impairment, Fasciculations	OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Seizure, Action tremor, Rigidity, Babinski sign, Parkinson...	OMIM:300423
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ...	OMIM:615924
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen...	OMIM:615127
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move...	OMIM:616981
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Chiari type I malformation, Dystonia, EEG abnormality, Ataxia, Bradykinesia	OMIM:617836
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia	ORPHA:101078
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Progressive ce...	OMIM:618412
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c...	OMIM:158580
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a...	ORPHA:79263
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age, Seizure, Spasticity	ORPHA:356996
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low...	ORPHA:401820
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Myoclonic Epilepsy, Familial Infantile	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:605021
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc...	ORPHA:276435
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par...	OMIM:213600
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R...	ORPHA:306692
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz...	OMIM:618141
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral ...	OMIM:301020
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti...	OMIM:610357
X-Linked Charcot-Marie-Tooth Disease Type 6	Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio...	ORPHA:352675
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi...	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit...	OMIM:617916
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,...	ORPHA:512260
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl...	OMIM:607565
Developmental And Epileptic Encephalopathy 92	Spasticity, Difficulty walking, Inability to walk, Myoclonus, EEG abnormality, Ataxia, Dystonia	OMIM:617829
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculom...	ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon...	OMIM:619862
Spinocerebellar Ataxia Type 17	Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Dystonia,...	ORPHA:98759
X-Linked Progressive Cerebellar Ataxia	Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab...	ORPHA:1175
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism...	OMIM:618093
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc...	OMIM:601238
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ...	OMIM:607876
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Slender build, Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss of ambul...	OMIM:618088
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ...	OMIM:620453
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Roussy-Lévy Syndrome	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,...	ORPHA:3115
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin...	ORPHA:521406
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst...	ORPHA:98811
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, EEG abnormality, Tremor, Ataxia	OMIM:617831
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Developmental And Epileptic Encephalopathy 32	EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus, Tremor, Ataxia	OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co...	OMIM:618587
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Progressive cerebellar ataxia, Spasticity, Cerebral atrophy, Impaired vibration sensation in the ...	ORPHA:352641
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi...	OMIM:601098
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax...	OMIM:600116
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia	ORPHA:1368
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,...	OMIM:620158
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Spastic ata...	ORPHA:314603
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun...	OMIM:607346
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Falls, Spontaneous pain sensation, Somatic sensory dysfunctio...	ORPHA:2932
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella...	ORPHA:101070
Developmental Delay With Or Without Epilepsy	Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Generalized non-motor (absence...	OMIM:620540
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Obesity, Tremor, Ataxia	OMIM:620270
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Ataxia, Interictal e...	OMIM:254800
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at...	OMIM:616719
Developmental And Epileptic Encephalopathy 97	Inability to walk, Hypsarrhythmia, Tremor	OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress...	ORPHA:101112
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Developmental And Epileptic Encephalopathy 56	Broad-based gait, EEG with polyspike wave complexes, Action tremor, EEG abnormality, Ataxia, Poor...	OMIM:617665
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie...	ORPHA:98
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Spinocerebellar Ataxia 49	Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ...	OMIM:619806
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul...	ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction veloci...	OMIM:607250
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Hand tremor, Difficulty walking, Decreased compound muscle action potent...	OMIM:618279
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Autosomal Dominant Spastic Paraplegia Type 19	Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Difficulty walking, ...	ORPHA:100999
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age rang...	ORPHA:263516
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu...	OMIM:302800
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ...	ORPHA:314632
Dravet Syndrome	Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen...	OMIM:607208
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait...	ORPHA:248111
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti...	OMIM:224050
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff...	ORPHA:101077
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Brachydactyly, Short metatarsal,...	OMIM:103580
Null Syndrome	Progressive spastic paraplegia, Difficulty walking, Inability to walk, Decreased nerve conduction...	ORPHA:280234
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Paraparesi...	ORPHA:99014
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral cortical...	ORPHA:33445
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Short metatarsal, Short meta...	OMIM:612462
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Hypophosphatemic Bone Disease	Hypophosphatemia, Bowing of the legs	OMIM:146350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity, Gait disturbance, Seizure	ORPHA:436141
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Spinocerebellar Ataxia Type 2	Cerebral cortical atrophy, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkin...	ORPHA:98756
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy...	OMIM:607136
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr...	OMIM:618317
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Cerebellar atrophy, Myoclonus, Dy...	OMIM:614487
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walking, Inability to w...	ORPHA:330050
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal...	ORPHA:98773
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom...	ORPHA:208513
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia	OMIM:620221
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p...	ORPHA:90117
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata...	ORPHA:352403
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, Tremor, Babinsk...	OMIM:609260
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc...	ORPHA:100988
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop...	OMIM:614409
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Kohlschutter-Tonz Syndrome	Spasticity, Myoclonic seizure, Seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, At...	OMIM:226750
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Nephronophthisis 15	Cerebellar vermis hypoplasia, Obesity, Seizure	OMIM:614845
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe...	OMIM:159550
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare...	OMIM:615491
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Ata...	OMIM:614559
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Spastic Paraplegia 17, Autosomal Dominant	Spastic paraplegia, Decreased motor nerve conduction velocity, Impaired vibration sensation in th...	OMIM:270685
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se...	ORPHA:206594
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ...	ORPHA:139485
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), In...	OMIM:618917
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D...	OMIM:615889
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl...	ORPHA:1802
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize...	OMIM:607682
Pelizaeus-Merzbacher Disease, Classic Form	EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,...	ORPHA:280219
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,...	OMIM:614877
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Hypocalcemic seizures, Short foot, Sho...	OMIM:241410
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di...	OMIM:603472
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired vibration sensation in the low...	ORPHA:137898
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila...	ORPHA:352582
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d...	ORPHA:53583
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Ataxia	OMIM:619191
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor...	OMIM:180800
Episodic Ataxia, Type 5	Episodic ataxia, EEG with spike-wave complexes, Myoclonus, Ataxia, Truncal ataxia, EEG with gener...	OMIM:613855
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t...	OMIM:612020
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy...	ORPHA:529665
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Phenylketonuria	Lower limb spasticity, EEG abnormality, Tremor, Ataxia	ORPHA:716
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve co...	ORPHA:98755
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Cerebellar atrophy, Myoclonus, Dy...	ORPHA:313772
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,...	ORPHA:98772
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Cortical subperiosteal resorption of humera...	ORPHA:94089
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Interictal epileptiform activity, Myoclonus, Tremor	OMIM:615400
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li...	OMIM:183090
Developmental And Epileptic Encephalopathy 52	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ...	OMIM:617350
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore...	OMIM:620427
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,...	ORPHA:206443
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Intellectual Developmental Disorder, X-Linked 104	Cerebral cortical atrophy, Spasticity, Tremor, Ataxia	OMIM:300983
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 yea...	OMIM:618012
Spinocerebellar Ataxia Type 10	EEG with generalized epileptiform discharges, Cerebellar atrophy, Gait imbalance, Gait ataxia, In...	ORPHA:98761
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist...	OMIM:617166
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Developmental And Epileptic Encephalopathy 42	Tremor, EEG abnormality, Hypertonia, Ataxia, Athetosis	OMIM:617106
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential...	ORPHA:320401
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B...	ORPHA:306669
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-...	ORPHA:36387
Joubert Syndrome 25	Cerebellar hypoplasia, Oculomotor apraxia, Ataxia	OMIM:616781
Spastic Ataxia 3, Autosomal Recessive	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia...	OMIM:611390
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Spastic dysarthria, Cerebellar atrophy, Progressive spastic paraplegia, Seizure, Diff...	ORPHA:280763
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, Bil...	OMIM:271980
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait...	OMIM:118300
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure...	OMIM:619606
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr...	OMIM:605259
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Spinocerebellar Ataxia With Epilepsy	Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG with occipital epileptiform discharges, Dystonia, ...	ORPHA:254881
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ...	ORPHA:251347
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Cere...	OMIM:618170
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Gait ataxia, Myoclonus, Tremor, R...	OMIM:618877
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a...	OMIM:604391
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Spastic Ataxia, Charlevoix-Saguenay Type	Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Decreased motor nerve conduct...	OMIM:270550
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal...	OMIM:616267
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypocalcemia,...	OMIM:600081
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Seizure, Inability to walk, Obesity, Lower limb spasticity, Ataxia, Generalized...	OMIM:616756
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:612016
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu...	ORPHA:542310
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Infantile spasms, Cerebellar hypoplasia, Tonic seizure, Limb hypertonia, Bi...	OMIM:620028
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Bowing of the legs	ORPHA:89937
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Joubert Syndrome 32	Tall stature, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Ataxia	OMIM:617757
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia	OMIM:617994
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Caribbean Parkinsonism	Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,...	ORPHA:97355
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor...	OMIM:617435
Hsd10 Disease	Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity, Gait disturban...	ORPHA:391417
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal st...	OMIM:101800
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Large for gestational age, Truncal obesity	ORPHA:293964
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metacarpal, Hyperphosphatemi...	ORPHA:79444
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo...	OMIM:607694
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis...	OMIM:613724
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Short humerus, Lateral femoral bowing, Bowing of the long bones, Hydroxyprolin...	OMIM:239000
Guanidinoacetate Methyltransferase Deficiency	Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnormality of extrapyramidal ...	ORPHA:382
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te...	OMIM:604484
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Infantile spasms, Hyperkinetic mov...	OMIM:617493
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin...	OMIM:215470
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Sanjad-Sakati Syndrome	Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot	ORPHA:2323
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Cerebral atrophy, Difficulty walking, Abnormality of coordinat...	ORPHA:442835
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Proximal Myopathy With Extrapyramidal Signs	Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w...	ORPHA:401768
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia...	OMIM:603516
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ...	ORPHA:3095
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Huntington Disease-Like 3	Spasticity, Chorea, Abnormality of extrapyramidal motor function, Dystonia, Caudate atrophy, Abno...	OMIM:604802
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ...	OMIM:205100
Huntington Disease-Like 2	Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Bradykinesia	OMIM:606438
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor...	OMIM:607454
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypophosphate...	OMIM:241530
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t...	OMIM:617013
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno...	ORPHA:13
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor...	ORPHA:504476
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Stenosis of the medullary cavity of the long bones, Anemi...	ORPHA:93325
Inherited Creutzfeldt-Jakob Disease	Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri...	ORPHA:282166
Bardet-Biedl Syndrome 10	Obesity, Seizure	OMIM:615987
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age	OMIM:256450
4H Leukodystrophy	Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Autism, Susceptibility To, X-Linked 6	Obesity, Seizure	OMIM:300872
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-...	ORPHA:457240
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypophosphate...	OMIM:300554
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, ...	OMIM:606002
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor...	OMIM:618060
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets, Abnormality of the lower limb	OMIM:193100
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra...	ORPHA:363654
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metaca...	ORPHA:79443
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Fibular bowing...	OMIM:264700
Autosomal Dominant Spastic Paraplegia Type 9B	Focal dystonia, Postural tremor, Upper motor neuron dysfunction, Loss of ambulation, Progressive ...	ORPHA:447757
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:607734
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo...	ORPHA:726
Mohr-Tranebjaerg Syndrome	Shuffling gait, Global brain atrophy, Generalized dystonia, Abnormality of somatosensory evoked p...	ORPHA:52368
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Tremor, Hyperk...	OMIM:300957
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Cerebral atrophy, EEG with burst suppression, Tremor, Hypsarrhythmia, Spastic...	OMIM:612164
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, EEG with generalized slo...	OMIM:300055
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni...	ORPHA:329284
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Genu valgum, Hypophosphatemic rickets	OMIM:618913
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e...	OMIM:614298
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Brain atrophy	OMIM:619092
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant...	OMIM:159950
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Short metacarpal	ORPHA:2611
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Difficulty walking,...	ORPHA:464282
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Gait ataxia, Myoclonus, Trem...	ORPHA:363400
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor	OMIM:620546
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talipes equinovarus...	OMIM:607143
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Fibular bowing...	OMIM:277440
Mehmo Syndrome	Spasticity, Seizure, Difficulty walking, Inability to walk, Obesity, Gait ataxia, Babinski sign, ...	OMIM:300148
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Micrognathia, Knee flexion contracture, Hip contracture, Bowing of the long ...	OMIM:156400
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Global brain atrophy, Generalized dystonia, Inability to wa...	OMIM:312080
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Tibial Hemimelia	Absent tibia	OMIM:275220
Oncogenic Osteomalacia	Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemi...	ORPHA:352540
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
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	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Hernández-Aguirre Negrete Syndrome	Obesity, Seizure	ORPHA:2139
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Spastic Paraplegia 47, Autosomal Recessive	Spastic paraplegia, Spasticity, Seizure, Inability to walk, Babinski sign, Hypertonia, Overweight...	OMIM:614066
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Spasticity, Inability to walk, Tremor, EEG abnormality, Brain atrophy	OMIM:618718
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Spinocerebellar Ataxia, Autosomal Recessive 31	Cerebral atrophy, Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreoathetosis	OMIM:619422
Saccharopinuria	Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia	ORPHA:3124
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Spastic tetraparesis	OMIM:619470
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Focal EEG discharges with secondary generalizat...	ORPHA:3077
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Abnormal hip bone morphology, Genu valgum, Hypocalcemia, Hy...	ORPHA:93160
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T...	OMIM:615530
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Femoral bowin...	ORPHA:289157
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel...	OMIM:607483
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Tip-toe gait, Obesity, Impaired vibration sensation in the lower limbs, Ankle...	OMIM:604360
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Seizure, Obesity, Hypertonia, Bilateral tonic-clonic sei...	OMIM:619854
Microduplication Xp11.22P11.23 Syndrome	Obesity, Seizure	ORPHA:217377
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Cerebellar hypoplasia, Obesity, Generalized myoclonic seizure, Seizure	ORPHA:352530
Dent Disease 1	Delayed epiphyseal ossification, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibial bowing...	OMIM:300009
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral atrophy, Limb hypertoni...	OMIM:617710
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Seizure	OMIM:620065
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Elevated circulating c...	OMIM:619743
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Seizure, Ataxia	OMIM:616116
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic paraparesis, Cereb...	ORPHA:329308
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech	OMIM:206700
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Obesity, Seizure	OMIM:613886
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Sp...	ORPHA:95433
Rafiq Syndrome	Seizure, Obesity, Cerebellar hypoplasia, Truncal obesity, Ataxia	OMIM:614202
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Myoclonic-Astatic Epilepsy	Ataxia, EEG with irregular generalized spike and wave complexes, EEG with focal spike waves, EEG ...	ORPHA:1942
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Opsismodysplasia	Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas...	OMIM:258480
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to wa...	OMIM:615356
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Developmental And Epileptic Encephalopathy 46	Cerebral atrophy, Hypsarrhythmia, Limb hypertonia, Tremor	OMIM:617162
Hypomagnesemia 3, Renal	Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypomagnesemi...	OMIM:248250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu...	OMIM:600785
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, B...	ORPHA:447753
Syngap1-Related Developmental And Epileptic Encephalopathy	Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordination	ORPHA:544254
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Tremor, Rigidity	OMIM:615010
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Myopathy With Extrapyramidal Signs	Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal motor fun...	OMIM:615673
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis	OMIM:312170
Hyperparathyroidism, Neonatal Severe	Metaphyseal irregularity, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady...	OMIM:618124
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ...	ORPHA:765
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cerebral palsy, Seizure, Cerebellar vermis atrophy, Obesity, Focal-onset seizure, Lower limb spas...	ORPHA:163681
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cerebral cortical atrophy, Tremor, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Hypert...	ORPHA:1192
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Primary Progressive Freezing Gait	Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R...	ORPHA:75567
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy...	ORPHA:225147
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Neuronal loss in cen...	ORPHA:683
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Spastic Paraplegia 51, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Babinski sign, Ov...	OMIM:613744
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Shox-Related Short Stature	Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy...	OMIM:168601
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Seizure	OMIM:618725
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,...	OMIM:617675
Ataxia-Oculomotor Apraxia Type 4	Obesity, Oculomotor apraxia, Somatic sensory dysfunction, Ataxia	ORPHA:459033
Sialidosis Type 1	Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, EEG abnormality, Ataxia...	ORPHA:812
Baralle-Macken Syndrome	Inability to walk, Obesity, Focal-onset seizure, Spasticity	OMIM:619255
Oculopharyngodistal Myopathy 3	Tremor, Ataxia	OMIM:619473
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Abnormal epiphysis morphology, Trapez...	ORPHA:89936
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Neuronal ...	OMIM:168600
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Myoclonus, Tremor, Ataxia	ORPHA:97229
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Ataxia, Obesity, Seizure, Broad-based gait	ORPHA:411515
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Appendicu...	OMIM:617988
Luscan-Lumish Syndrome	Chiari malformation, Seizure, Obesity, Overgrowth, Slurred speech	OMIM:616831
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Obesity, Dysmetria, Decreased body weight	OMIM:300804
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Gait disturbance, Seizure, Hand tremor	ORPHA:589905
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia	ORPHA:70594
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Seizure, Tremor	ORPHA:276608
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Laurence-Moon Syndrome	Spastic paraplegia, Obesity, Ataxia	OMIM:245800
Tay-Sachs Disease	Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Lary...	ORPHA:845
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, A...	OMIM:146500
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins...	OMIM:616840
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Ataxia-Telangiectasia	Spasticity, Gait disturbance, Tremor, Ataxia	ORPHA:100
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Micrognathia, Macroc...	OMIM:612561
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Large fo...	OMIM:615398
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati...	OMIM:234200
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Babinski sign, Neu...	ORPHA:314404
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Broad-based gait, Increased body mass index	OMIM:614450
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Tremor, Parkinsonism, Fr...	ORPHA:329478
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Xeroderma Pigmentosum, Complementation Group F	Brain atrophy, Tremor, Ataxia	OMIM:278760
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem...	ORPHA:99956
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Shwachman-Diamond Syndrome 1	Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Metaphyseal sclerosis, Proximal fem...	OMIM:260400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Intent...	OMIM:254900
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168605
Fibrous Dysplasia Of Bone	Lower limb asymmetry, Abnormal tibia morphology, Abnormal pelvis bone morphology, Abnormal femur ...	ORPHA:249
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	EEG with abnormally slow frequencies, Broad-based gait, Gait imbalance, Myoclonus, Tremor, EEG ab...	ORPHA:98794
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Joubert Syndrome 39	Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Overweight	OMIM:619562
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Lower limb asymmetry, Rickets of the lower limbs, Distal femoral bowing, ...	ORPHA:289176
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia, Brai...	OMIM:617186
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, Right hemipl...	OMIM:607426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Tremor, Dystonia, Gait disturb...	ORPHA:512
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o...	ORPHA:3035
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, ...	OMIM:601104
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati...	OMIM:620327
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Dilated f...	ORPHA:572798
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Pes cavus, Coxa valga	OMIM:616943
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Pallidal degeneration, Limb dystonia, Tremor, Rigidity, Ataxia, ...	ORPHA:25
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Tremor, Hyperkinetic movements, Opis...	OMIM:616271
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short toe, Microcytic anemia, Micrognathia, Talipes equinovarus	ORPHA:98791
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Fliedner-Zweier Syndrome	Obesity, Cerebellar atrophy, Seizure, Hypertonia	OMIM:620511
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Dysdia...	ORPHA:502423
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Myoclo...	ORPHA:199351
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Bulging epiphyses, Abnormality of the lo...	ORPHA:1652
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Seizure, Speech apraxia, Obesity, Chiari type I malformation, Paroxysmal dyski...	ORPHA:261197
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Rabin-Pappas Syndrome	Hypoplasia of the pons, Seizure, Failure to thrive in infancy, Obesity, Cerebellar hypoplasia, Ov...	OMIM:620155
Japanese Encephalitis	Pill-rolling tremor, Decreased motor nerve conduction velocity, EEG with burst suppression, Cogwh...	ORPHA:79139
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Congenital Myopathy 9A	Tongue fasciculations, Obesity, Akinesia	OMIM:618822
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Abnormal long b...	ORPHA:411634
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:220497
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Episodic ataxia, EEG with burst suppression, Uni- and bilateral m...	ORPHA:1934
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
X-Linked Intellectual Disability, Shashi Type	Obesity, Seizure	ORPHA:85286
Joubert Syndrome	Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:475
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Insulinoma	Seizure, Paresthesia, Tremor, Increased body weight, Abnormality of pain sensation	ORPHA:97279
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi...	OMIM:211350
Septo-Optic Dysplasia Spectrum	Obesity, Aplasia/Hypoplasia of the cerebellum, Seizure, Hemiplegia/hemiparesis	ORPHA:3157
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Wolfram Syndrome 1	Cerebral atrophy, Tremor, Ataxia	OMIM:222300
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Hypophosphatemia, Brachydactyly	OMIM:259775
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Hypocalcemia, Splenomegaly, Bowing of the long bones, Hypophosphat...	ORPHA:667
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Smith-Magenis Syndrome	Increased body weight, Seizure, Impaired pain sensation, Pain insensitivity	OMIM:182290
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:220493
Hyperlysinemia	Poor motor coordination, Tip-toe gait, EEG with spike-wave complexes, Dysmetria, Tremor, Neck hyp...	ORPHA:2203
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Ataxia	ORPHA:79095
Occipital Horn Syndrome	Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp...	ORPHA:699
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized myoclonic seizure, Myoclonic seizure, Seizure, Generalized-onset seizure, Obesity, Ce...	OMIM:614231
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mccune-Albright Syndrome	Hypophosphatemia, Pancytopenia, Abnormal femur morphology	ORPHA:562
Niemann-Pick Disease Type C	Cataplexy, Cerebral atrophy, Cerebellar vermis atrophy, Speech apraxia, Chorea, Myoclonus, Limb d...	ORPHA:646
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Autosomal Recessive Spastic Paraplegia Type 11	Progressive spasticity, Seizure, Inability to walk, Obesity, Abnormality of extrapyramidal motor ...	ORPHA:2822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Ataxia-Telangiectasia	Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slurred speech, Dysdiad...	OMIM:208900
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Seizure, Tall stature, Large for gestational age, Gait ataxia, Disproportiona...	OMIM:617011
Joubert Syndrome 8	Obesity, Oculomotor apraxia, Hypertonia, Ataxia	OMIM:612291
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Bilater...	OMIM:614947
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age, Seizure, Tremor	ORPHA:263455
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypomagnesemia, Genu valgum, Hypophosphatemic rick...	OMIM:219800
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Increased mean corp...	OMIM:105650
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c...	ORPHA:79102
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Seizure	OMIM:300860
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Chediak-Higashi Syndrome	Neurodegeneration, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia	OMIM:214500
Oculocerebrorenal Syndrome Of Lowe	Abnormal epiphysis morphology, Genu valgum, Micrognathia, Hyponatremia, Hypokalemia, Anemia, Hypo...	ORPHA:534
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib...	OMIM:200980
Diamond-Blackfan Anemia	Absent thumb, Short thumb, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Incr...	ORPHA:124
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Wilson Disease	Failure to thrive, Difficulty walking, Increased body weight, Clumsiness, Weight loss	ORPHA:905
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he...	OMIM:617052
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Micrognathia, Persistence of hemoglobin F	OMIM:617101
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Slender build, Large for gestational age, Gait ataxia, Cerebellar hypoplasia,...	ORPHA:457359
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Radial deviation of finger, Clinodactyly, HbH hemoglobin, Absent frontal sinuses, Talipes equinov...	OMIM:301040
Dpagt1-Cdg	Cerebral cortical atrophy, Global brain atrophy, Inability to walk, EEG with generalized slow act...	ORPHA:86309
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Sotos Syndrome	Seizure, Tall stature, Increased body weight, Overgrowth, Poor coordination	OMIM:117550
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Lead Poisoning	Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester...	ORPHA:330015
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Abdominal obesity	OMIM:615954
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Narcolepsy 7	Obesity, Cataplexy	OMIM:614250
6Q Terminal Deletion Syndrome	Failure to thrive, Seizure, Obesity, Gait ataxia, Dysmetria, Cerebellar hypoplasia	ORPHA:75857
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Talipes equinovarus, Brachydactyly, Anemia, Clinodactyly of the 5th finger	ORPHA:847
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Oculopharyngodistal Myopathy 1	Difficulty walking, Brain atrophy, Tremor, Ataxia	OMIM:164310
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ...	OMIM:218330
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	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	Failure to thrive, Seizure, Impaired temperature sensation, Increased body weight, Abdominal obesity	ORPHA:398069
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Charge Syndrome	Bifid femur, Short thumb, Lymphopenia, Micrognathia, Hypocalcemia, Down-sloping shoulders, Hand p...	OMIM:214800
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Increased body weight, Failure to thrive	ORPHA:264580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Abdominal obesity	ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight	ORPHA:79240
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight	ORPHA:2298
Alkaptonuria	Methemoglobinemia, Hemolytic anemia, Thickened Achilles tendon	ORPHA:56
Hellp Syndrome	Increased body weight	ORPHA:244242
Cushing Disease	Increased body weight, Truncal obesity, Abdominal obesity	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Weight loss, Truncal obesity, Abdominal obesity	ORPHA:99889
Carney Complex	Increased body weight, Tall stature, Abdominal obesity	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.

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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

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Gene: Sptbn2 MGI:1313261

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Sptbn2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data