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Gene: Uchl1 MGI:103149

Gene Summary

Name:

ubiquitin carboxy-terminal hydrolase L1

Synonyms:

PGP9.5, PGP 9.5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased startle reflex	Uchl1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.24×10^-05
abnormal spine curvature	Uchl1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.77×10^-08
hyperactivity	Uchl1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.00×10^-05
increased circulating alkaline phosphatase level	Uchl1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.38×10^-06

Download data as: TSV XLS

Select physiological systems to view:

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

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images

Echo

M-Mode Images

48 Images

View images

Adult LacZ

LacZ Images Wholemount

14 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

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

6 Images

View images

Human diseases caused by Uchl1 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 Uchl1 (4 diseases)
Human diseases predicted to be associated with Uchl1 (1342 diseases)

The table below shows human diseases associated to Uchl1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,...	OMIM:620221
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys...	ORPHA:2828
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643

The table below shows human diseases predicted to be associated to Uchl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Mononeuropathy Of The Median Nerve, Mild	Peripheral axonal neuropathy	OMIM:613353
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat...	OMIM:614436
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In...	OMIM:302800
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking	OMIM:616330
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Frequent falls, Difficulty walking	OMIM:616227
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, Fa...	ORPHA:353327
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Huntington Disease-Like 2	Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere...	ORPHA:98934
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm...	OMIM:615625
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc...	ORPHA:803
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski...	ORPHA:101010
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents	OMIM:616321
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of...	OMIM:208920
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr...	OMIM:604484
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene...	OMIM:615957
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia	OMIM:300857
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin...	OMIM:605285
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Mitochondrial Dna Depletion Syndrome 18	Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive	OMIM:618811
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Schizophrenia 15	Hyperactivity	OMIM:613950
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Talipes equinovarus, Difficul...	OMIM:613710
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Scoliosis	OMIM:614750
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells	OMIM:253550
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Monomelic Amyotrophy	Degeneration of anterior horn cells	ORPHA:65684
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Myasthenic Syndrome, Congenital, 16	Fatigable weakness, Gait disturbance, Periodic paralysis, Hyperlordosis	OMIM:614198
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Talipes equinovarus	OMIM:616155
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Scoliosis	OMIM:616311
Myasthenic Syndrome, Congenital, 5	Hyperlordosis, Decreased size of nerve terminals, Prolonged miniature endplate currents, Fatigabl...	OMIM:603034
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:600143
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable w...	ORPHA:1320
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:607706
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Split ...	OMIM:604168
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoc...	OMIM:159950
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat...	ORPHA:88628
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Paresis of extensor muscles of the big...	ORPHA:99947
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration	OMIM:610951
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ...	ORPHA:2572
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Cerebral degeneration, Ataxia	OMIM:260970
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia...	OMIM:607458
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn...	OMIM:607317
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy	ORPHA:309169
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Spinal Muscular Atrophy, Type Iii	Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los...	OMIM:253400
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner...	OMIM:604320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the...	OMIM:609161
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short palm, Ataxia, Tremor,...	OMIM:610185
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:254210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Talipes equinovarus, ...	OMIM:620011
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Scoliosis, Facial palsy, Decreased miniature endplate potentials	OMIM:608930
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P...	ORPHA:300605
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Ravine Syndrome	Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, At...	ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ...	OMIM:618387
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ...	OMIM:608627
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Peripheral axonal degeneration, Impaired distal proprioception, Dec...	ORPHA:101097
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:605809
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Fatigable weakness, Decreased size of nerve terminals, Prolonged miniature endplate currents	OMIM:601462
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis	OMIM:616286
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Spinocere...	OMIM:617916
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ...	ORPHA:52430
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:614895
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor...	OMIM:618876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait	OMIM:618138
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Hypertrophic nerve changes, Abnormal motor neuron morphology	DECIPHER:29
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A...	OMIM:617225
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce...	ORPHA:521406
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity	OMIM:615889
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa...	ORPHA:137898
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Impaired distal proprioception, Decreased nerve conduction velo...	ORPHA:99948
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga	OMIM:620270
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat...	OMIM:619054
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Myasthenic Syndrome, Congenital, 23, Presynaptic	Fatigable weakness, Frequent falls	OMIM:618197
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ...	OMIM:610357
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Facial-...	ORPHA:276244
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait...	ORPHA:95434
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti...	ORPHA:33445
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa...	OMIM:615924
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S...	OMIM:615643
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal...	ORPHA:216873
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Hammertoe, Fasciculations, Difficulty walking	OMIM:615048
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Facial palsy, Decreased size of nerve terminals, Fatigable weakness of n...	ORPHA:98913
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ...	OMIM:210000
Tuberculosis	Weight loss	ORPHA:3389
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba...	OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa...	ORPHA:101077
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Huntington Disease	Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ba...	ORPHA:399
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona...	ORPHA:206594
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Waddling gait	OMIM:271150
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Pulmonary Blastoma	Weight loss	ORPHA:64741
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas...	OMIM:607596
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ...	ORPHA:98759
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Fatiguable weakness of proximal limb muscles, D...	ORPHA:2932
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ...	ORPHA:139578
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Abnormal autonomic n...	ORPHA:478029
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia	OMIM:619099
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn...	OMIM:301830
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,...	OMIM:620221
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste...	ORPHA:79263
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610743
Isaacs Syndrome	Weight loss, Distal sensory impairment	ORPHA:84142
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve conduction velocity	ORPHA:101075
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper...	ORPHA:247604
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Hammertoe, Peripheral hypomyeli...	OMIM:616287
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe...	ORPHA:98
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy	OMIM:615911
Myasthenic Syndrome, Congenital, 12	Fatigable weakness, Facial palsy, Waddling gait	OMIM:610542
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Pontocerebellar Hypoplasia Type 1	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue ...	ORPHA:2254
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ...	OMIM:617810
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Split hand, Distal sensory impairment, Hammert...	OMIM:118300
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce...	OMIM:617435
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens...	OMIM:617633
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction...	ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Gait disturbance, Scoliosis	ORPHA:101078
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P...	ORPHA:681
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Hemiatrophy, Brain...	ORPHA:306669
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen...	ORPHA:445062
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic...	ORPHA:330050
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
De Sanctis-Cacchione Syndrome	Ataxia, Babinski sign, Optic atrophy, Scissor gait, Axonal degeneration, Cerebral atrophy, Choreo...	OMIM:278800
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog...	ORPHA:909
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Facial palsy, Prolonged miniature endplate currents, Decreased size of nerve termi...	ORPHA:98915
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ...	OMIM:613608
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebellar tract degeneration...	OMIM:183090
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal...	ORPHA:683
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem...	OMIM:614409
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia	OMIM:618951
Rabies	Vocal cord paresis, Cerebral palsy, Paresthesia	ORPHA:770
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante...	OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, Scoliosis, Abnormal nerve...	ORPHA:99014
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Variegate Porphyria	Paralysis	OMIM:176200
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb...	ORPHA:139485
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spas...	OMIM:609541
Secondary Syringomyelia	Back pain, Hyperintensity of MRI T2 signal of the spinal cord, Paraplegia, Fatigable weakness, Pr...	ORPHA:99857
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De...	OMIM:619279
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy	OMIM:300983
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal autonomic nervous system phys...	ORPHA:97229
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D...	ORPHA:228360
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio...	OMIM:616505
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O...	ORPHA:280234
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Difficulty wal...	ORPHA:600
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Fatigable weakness	OMIM:254190
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysme...	OMIM:270550
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye...	ORPHA:2590
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,...	ORPHA:90117
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe ga...	ORPHA:216866
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys...	OMIM:612716
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce...	ORPHA:85278
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Hyperlordosi...	OMIM:128100
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ...	OMIM:617404
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d...	ORPHA:391417
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro...	ORPHA:289560
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto...	ORPHA:363722
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Scoliosis, Abnorma...	ORPHA:48431
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hyperactivity, Scoliosis, Bruxism	OMIM:300434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis	OMIM:611067
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl...	ORPHA:206448
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A...	OMIM:230650
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S...	OMIM:615290
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Fatigable weakness, Facial palsy	OMIM:616322
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex	OMIM:601068
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys...	OMIM:607694
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Cachexia, Weight loss	OMIM:613662
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph...	ORPHA:401768
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o...	ORPHA:35689
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis	OMIM:619470
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Weight loss, Failure to thrive, Cachexia, Gait ataxia	OMIM:612075
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the tw...	ORPHA:268882
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Fatigable weakness, Facial palsy	OMIM:616325
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t...	OMIM:312080
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Inability to walk, Frontal cortical atrophy, Difficulty walking, Fatigable weakness of skeletal m...	ORPHA:206559
Myasthenic Syndrome, Congenital, 10	Fatigable weakness, Waddling gait	OMIM:254300
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculation...	ORPHA:1145
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal d...	ORPHA:447757
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w...	OMIM:616710
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Enhancement of the C-reflex, Myoclonus	OMIM:615127
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Desminopathy	Thoracic kyphoscoliosis, Spinal rigidity, Fatigable weakness of bulbar muscles, Difficulty walkin...	ORPHA:98909
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Idiopathic Achalasia	Weight loss	ORPHA:930
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia	OMIM:238700
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Kyphosis, Unsteady ...	ORPHA:464282
Congenital Myopathy With Myasthenic-Like Onset	Fatigable weakness, Gait disturbance, Scoliosis	ORPHA:424107
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hyperto...	OMIM:614898
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Inability to walk, Small hand, Tremor	OMIM:616269
Spinocerebellar Ataxia Type 21	Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Titubat...	ORPHA:98771
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Chronic axonal neuropathy, Ataxia, Kyphosis, Babinski ...	ORPHA:88644
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, Abno...	ORPHA:500180
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy...	ORPHA:255182
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T...	OMIM:607225
Myasthenic Syndrome, Congenital, 14	Fatigable weakness, Waddling gait, Scoliosis, Hyperlordosis	OMIM:616228
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor	ORPHA:1368
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Short neck, Fatiguable weakness of proximal limb musc...	ORPHA:171436
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu...	ORPHA:529665
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:702
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, Ab...	ORPHA:79139
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Dystoni...	OMIM:606002
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia...	OMIM:619422
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G...	OMIM:618877
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ...	OMIM:168600
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Tubular Aggregate Myopathy	Fatiguable weakness of proximal limb muscles, Fatigable weakness	ORPHA:2593
Fatal Familial Insomnia	Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Neuronal loss in ce...	OMIM:600072
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ...	OMIM:619092
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Dystonia	OMIM:618237
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination	OMIM:616684
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Hereditary Central Diabetes Insipidus	Irritability, Weight loss	ORPHA:30925
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Oculopharyngodistal Myopathy	Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis	ORPHA:98897
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Kyphosis, Inability to walk, Limb myoclonus, Gait ataxia...	ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Weight loss	ORPHA:141152
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased motor nerve conduction velocity, Failure to thrive, Decreased numbe...	ORPHA:99949
Diencephalic Syndrome	Large hands, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina...	ORPHA:52368
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Inability to walk, Optic at...	OMIM:617988
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior	OMIM:615541
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation	OMIM:618124
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Dystonia, Spasticity, Global brain atrophy	OMIM:619255
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang...	OMIM:256700
Krabbe Disease	Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy...	OMIM:610217
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Pure Mitochondrial Myopathy	Waddling gait, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Fatigable weakness of ...	ORPHA:254854
Ane Syndrome	Motor neuron atrophy, Kyphoscoliosis	ORPHA:157954
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia	OMIM:617162
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para...	OMIM:616586
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Fatigable weakness, Facial palsy, Decreased size of nerve terminals	OMIM:608931
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spa...	ORPHA:83629
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clo...	OMIM:211530
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Myoclonus, Aprax...	OMIM:221770
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi...	OMIM:614381
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari typ...	ORPHA:221098
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Mulibrey Nanism	Cachexia	ORPHA:2576
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst...	ORPHA:411602
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
X-Linked Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa...	ORPHA:53351
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Kyphoscoliosis, Anorexia, Tremor, Aggressive behavior, Abnormal fe...	ORPHA:3077
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Self-injurious behavior, Thoracic kypho...	OMIM:619467
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa...	OMIM:607483
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod...	OMIM:312170
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat...	OMIM:615673
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare...	ORPHA:3208
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Tongue fasciculations	OMIM:620007
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tapered finger, Decrease...	OMIM:218000
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio...	ORPHA:297
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ...	ORPHA:36387
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Choreoathetosis, Self-injurious behavior, Scoliosis	OMIM:620023
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C...	ORPHA:157846
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Gait disturbance, Tetr...	OMIM:263570
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,...	ORPHA:79244
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia,...	OMIM:617710
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr...	ORPHA:1192
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity	OMIM:618323
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Gait disturbance, Scoliosis	ORPHA:2429
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Tapered finger, Inability to walk, Cerebral atrophy, Hype...	OMIM:616801
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Peripheral axonal neuropathy, Ataxia, Impaired distal proprioception, Hypoesthe...	OMIM:607459
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Myasthenic Syndrome, Congenital, 20, Presynaptic	Fatigable weakness, Kyphosis, Facial palsy, Scoliosis	OMIM:617143
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Gait ataxia, Short foot, Truncal ataxia, Spasticity, Cerebral c...	OMIM:312750
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormality of the dorsal column of the spinal cord, Tremor, Abnormal cerebellum morphology, Corp...	ORPHA:447753
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Kyphosis, Clonus, Limb dystonia	ORPHA:319199
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Thymic Carcinoma	Fatigable weakness, Diaphragmatic paralysis	ORPHA:99868
Poliomyelitis	Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, Hyperkinetic...	ORPHA:2912
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Optic atrophy, Abnormal brainstem morphology, Abnormal pyramidal sign, Ab...	ORPHA:79279
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Babinski sign, 2-3 toe s...	OMIM:618186
Central Diabetes Insipidus	Depression, Failure to thrive, Weight loss	ORPHA:178029
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ...	ORPHA:99965
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Optic atrophy, Upper limb undergrowth, Small hand, Pontocerebellar atrophy, Short...	OMIM:608799
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,...	ORPHA:466768
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio...	OMIM:606612
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disor...	OMIM:620141
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Cdkl5-Deficiency Disorder	Kyphosis, Difficulty walking, Gait disturbance, Scoliosis	ORPHA:505652
Optic Pathway Glioma	Fatigable weakness, Papilledema, Neurofibroma, Optic atrophy	ORPHA:2086
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,...	ORPHA:99956
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclon...	ORPHA:500144
Flynn-Aird Syndrome	Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation	ORPHA:2047
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis	OMIM:620161
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia	OMIM:615651
Glioblastoma	Paralysis	ORPHA:360
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H...	OMIM:105210
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Tremor, Unsteady gait, Optic atrophy, Weig...	ORPHA:354
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner...	OMIM:616840
Xeroderma Pigmentosum, Complementation Group F	Tremor, Ataxia, Brain atrophy, Decreased body weight	OMIM:278760
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa...	OMIM:617186
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia, Cachexia	ORPHA:1933
Moynahan Syndrome	Cachexia	ORPHA:2574
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t...	OMIM:607876
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp...	OMIM:203700
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly, Hypertonia, Cachexia	ORPHA:1389
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis	OMIM:618392
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Cerebellar d...	ORPHA:457240
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb...	ORPHA:298
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance	ORPHA:1875
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive	ORPHA:100
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Focal Myositis	Weight loss	ORPHA:48918
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Cerebellar...	OMIM:248800
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Kypho...	ORPHA:97349
Sialidosis Type 1	Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Slurred speech, Abnormal form of t...	ORPHA:812
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ...	ORPHA:314404
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ...	ORPHA:845
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr...	OMIM:615574
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration	OMIM:615919
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Diffuse cerebral atrophy, ...	ORPHA:206436
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis, Apraxia...	OMIM:314580
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Winchester Syndrome	Kyphosis	OMIM:277950
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom...	OMIM:605373
Holocarboxylase Synthetase Deficiency	Irritability, Ataxia, Weight loss	ORPHA:79242
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Neurodegeneration, Brain...	OMIM:214150
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls	ORPHA:75840
Graves Disease, Susceptibility To, 1	Irritability, Weight loss	OMIM:275000
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ...	OMIM:620327
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy	OMIM:609242
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal...	OMIM:607155
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a...	OMIM:616878
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis	ORPHA:3198
Myopathy, Centronuclear, 2	Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:255200
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Hirschsprung Disease	Adducted thumb, Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Sialidosis Type 2	Tremor, Kyphosis, Ataxia	ORPHA:87876
Erythrokeratodermia Variabilis	Tapered finger, Brachydactyly, Weight loss	ORPHA:317
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly...	ORPHA:98863
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:181405
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Short neck, Kyphosis, Inability to walk, Brain atrophy, Scoliosis, Oculomotor aprax...	OMIM:301041
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decre...	ORPHA:2388
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Spasticity	ORPHA:352490
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu...	OMIM:601104
Trigeminal Neuralgia	Somatic sensory dysfunction, Paresthesia, Allodynia, Depression	ORPHA:221091
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Paralysis	ORPHA:83601
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno...	OMIM:617600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp...	OMIM:618476
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Inhalational Botulism	Paralysis	ORPHA:254504
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Cerebral palsy, Hypertonia, Scoliosis	OMIM:615834
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi...	ORPHA:329478
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesia, Decreased body weight, Al...	ORPHA:51890
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe...	ORPHA:98853
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus	OMIM:618321
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Follicular Lymphoma	Weight loss	ORPHA:545
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:156530
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Wilson Disease	Increased body weight, Weight loss, Clumsiness, Difficulty walking, Failure to thrive	ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Kyphosis, Cerebellar vermis atrophy, Gait ataxia	OMIM:300354
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,...	ORPHA:502423
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Gitelman Syndrome	Failure to thrive, Ataxia, Paresthesia, Paralysis	OMIM:263800
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weight loss, Cerebral...	OMIM:619487
Myasthenia Gravis	Fatigable weakness, Facial palsy	OMIM:254200
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	OMIM:619797
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Vocal cord paralysis, Tremor	ORPHA:397744
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Metacarpal osteolysis, Gait disturbance, Carpal osteolysis	ORPHA:2774
Ichthyosis, Congenital, Autosomal Recessive 2	Short toe, Short finger, Paralysis	OMIM:242100
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Hand pol...	ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration	OMIM:616239
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ...	OMIM:617799
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis	OMIM:615084
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Abnormal pyramid...	OMIM:614947
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, ...	OMIM:616271
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Pleural Mesothelioma	Weight loss	ORPHA:50251
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxi...	ORPHA:2072
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ...	OMIM:607426
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Pfapa Syndrome	Weight loss	ORPHA:42642
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Tremor, Small ha...	ORPHA:85293
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss, Abnormal superior cereb...	ORPHA:370348
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Brain atrophy	OMIM:164310
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Scoliosis	ORPHA:320406
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Hand pol...	ORPHA:220493
Wolfram Syndrome 1	Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrophy	OMIM:222300
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Cap Polyposis	Weight loss	ORPHA:160148
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Arachnodactyly, Cachexia, Small hand, Spastic tetraplegia, Talipes equinovarus, Hyperesthesia, Se...	ORPHA:371364
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci...	ORPHA:254892
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	ORPHA:79327
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Bullous Pemphigoid	Weight loss	ORPHA:703
Alexander Disease	Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Chorea, Abnormal pyramidal sign, Tetra...	ORPHA:58
4Q21 Microdeletion Syndrome	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:238750
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Stiff-Person Syndrome	Exaggerated startle response, Lumbar hyperlordosis, Opisthotonus	OMIM:184850
Andersen Cardiodysrhythmic Periodic Paralysis	Short metacarpal, Toe syndactyly, Periodic paralysis, Short metatarsal, Small hand, Small finger,...	OMIM:170390
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Joubert Syndrome	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait distu...	ORPHA:475
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Scoliosis, Abnormal temper tantrums,...	ORPHA:449291
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 toe syndactyly, Short foot, ...	ORPHA:37553
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Hyperlordosis	ORPHA:3085
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis	ORPHA:536516
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athet...	ORPHA:25
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul...	OMIM:601992
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Tremor, Central Y-shaped...	ORPHA:2754
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis	OMIM:300280
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Spasticity, Optic atrophy, Ataxia	ORPHA:220295
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc...	ORPHA:98855
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive	OMIM:615512
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking, Limb hy...	ORPHA:90322
12Q14 Microdeletion Syndrome	Tremor, Chiari malformation, Syringomyelia, Clinodactyly of the 5th finger, Failure to thrive	ORPHA:94063
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger	ORPHA:1438
Mcdonough Syndrome	Cachexia	ORPHA:2471
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive	ORPHA:99885
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Pemphigus Vulgaris	Weight loss	ORPHA:704
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss	ORPHA:183
Crisponi Syndrome	Kyphosis, Hypertonia, Scoliosis	ORPHA:1545
Giant Cell Arteritis	Optic atrophy, Paresthesia, Ataxia, Weight loss	ORPHA:397
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Camurati-Engelmann Disease	Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Ataxia, Facial palsy, Ca...	ORPHA:1328
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys...	ORPHA:2828
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc...	OMIM:300966
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu...	ORPHA:144
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Beta-Ketothiolase Deficiency	Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis	OMIM:254090
Immunodeficiency 27A	Hypoplasia of the femoral head, Weight loss	OMIM:209950
Arthrogryposis, Distal, Type 5	Kyphosis, Hypertonia, Scoliosis	OMIM:108145
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity	ORPHA:352447
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Kyphosis, Global brain atrophy, Short neck	OMIM:608776
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Renpenning Syndrome	Clinodactyly of the 5th finger, Abnormal thumb morphology, Cachexia	ORPHA:3242
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Dystonia, Intent...	OMIM:619708
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:618484
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu...	ORPHA:440437
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia	OMIM:603041
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,...	OMIM:230500
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Optic a...	OMIM:617527
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis, Decreased distal sensory nerve action potential, Hammertoe, Distal sensory im...	OMIM:606071
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ...	ORPHA:2131
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr...	ORPHA:2203
Autosomal Dominant Hypocalcemia	Fatigable weakness, Optic atrophy, Writer's cramp, Cortical myoclonus	ORPHA:428
Thymic Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Diaphyseal sclerosis	OMIM:259730
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia...	ORPHA:521426
Congenital Tufting Enteropathy	Irritability, Failure to thrive, Weight loss	ORPHA:92050
Idiopathic Bronchiectasis	Clubbing, Cachexia	ORPHA:60033
Dpagt1-Cdg	Ataxia, Arachnodactyly, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Opti...	ORPHA:86309
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Optic atrophy, Abnormal pyramida...	OMIM:612199
Nephroblastoma	Weight loss	ORPHA:654
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Chronic Beryllium Disease	Weight loss	ORPHA:133
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Upper mo...	ORPHA:646
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Myoclonus, Broad finger, D...	ORPHA:1934
Metachromatic Leukodystrophy	Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban...	ORPHA:512
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Takayasu Arteritis	Weight loss	ORPHA:3287
Trisomy 20P	Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb...	ORPHA:261318
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Chediak-Higashi Syndrome	Tremor, Ataxia, Gait disturbance, Neurodegeneration	OMIM:214500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy	OMIM:618291
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness	OMIM:159400
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Schaaf-Yang Syndrome	Inability to walk, Kyphosis, Scoliosis	OMIM:615547
Coffin-Lowry Syndrome	Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco...	ORPHA:192
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Brain atrophy, Spasticity, Failure to thrive	OMIM:616539
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Failure to thrive, Ataxia	OMIM:201100
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Polymyositis	Gait disturbance, Weight loss	ORPHA:732
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity	ORPHA:20
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Poems Syndrome	Papilledema, Metaphyseal sclerosis, Weight loss, Clubbing of fingers, Paresthesia, Hyperesthesia	ORPHA:2905
Whipple Disease	Cachexia, Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls	OMIM:620351
Majeed Syndrome	Failure to thrive, Metaphyseal irregularity, Cachexia, Weight loss	ORPHA:77297
Xfe Progeroid Syndrome	Failure to thrive, Poor coordination, Optic atrophy, Cachexia	OMIM:610965
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity	OMIM:613454
Kaposi Sarcoma	Weight loss	ORPHA:33276
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Brachydactyly, Cachexia, Short palm	ORPHA:3217
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Cockayne Syndrome	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Peripheral axonal neuropathy,...	ORPHA:191
Diastrophic Dysplasia	Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies	ORPHA:628
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Erdheim-Chester Disease	Abnormal cerebellum morphology, Abnormal metaphysis morphology, Ataxia, Weight loss	ORPHA:35687
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Emanuel Syndrome	Sacral dimple, Torticollis, Kyphosis, Cerebral atrophy, Scoliosis	OMIM:609029
Leishmaniasis	Weight loss	ORPHA:507
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Distal Renal Tubular Acidosis	Failure to thrive, Paralysis	ORPHA:18
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Interphalangeal joint erosions, Weight loss	OMIM:180300
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Cerebr...	OMIM:615846
Riddle Syndrome	Ataxia, Weight loss, Clumsiness, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Micro Syndrome	Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy	ORPHA:2510
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity	ORPHA:364028
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Cronkhite-Canada Syndrome	Cachexia, Tapered finger	ORPHA:2930
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Scoliosis	OMIM:618493
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Yao Syndrome	Weight loss	OMIM:617321
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:253800
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Kyphosis, Scoliosis	OMIM:617061
Tetrasomy 12P	Cachexia	ORPHA:884
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Gait distur...	ORPHA:261349
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Cachexia, Toe clinodactyly, Clinodactyly of the 5th finger, Fa...	ORPHA:217346
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Tapered finger, Duplication of distal phalanx of toe, Duplicati...	ORPHA:324540
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Acrodermatitis Enteropathica	Emotional lability, Failure to thrive, Weight loss	ORPHA:37
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring...	ORPHA:2789
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Trisomy 13	Kyphosis, Optic atrophy, Scoliosis	ORPHA:3378
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Spasticity, Scoliosis, Cerebral atrophy	OMIM:616449
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Klatskin Tumor	Weight loss	ORPHA:99978
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Clubbing of fingers, Clubbing, Paresthesia, Cachexia	OMIM:175500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,...	OMIM:619475
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Obesity, Weight loss, Broad thumb	ORPHA:251071
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral b...	ORPHA:79255
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Neurodegeneration, Cervical cord compression	OMIM:309900
Aredyld Syndrome	Cachexia, Brachydactyly	ORPHA:1133
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia	OMIM:169400
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Wolman Disease	Cachexia	ORPHA:75233
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Weight loss	ORPHA:324964
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Short Syndrome	Short palm, Brachydactyly, Weight loss	ORPHA:3163
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia	OMIM:617190
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Dysmetria, Intention tremor	OMIM:212065
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Short neck, Kyphosis, Dural ectasia, Syringomyelia, Scoliosis, B...	OMIM:130720
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Avascular necrosis of the capital femoral epiphysis, Optic atrophy, A...	ORPHA:581
3C Syndrome	Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis	ORPHA:7
Fucosidosis	Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa...	ORPHA:349
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Gitelman Syndrome	Failure to thrive, Paresthesia, Paralysis	ORPHA:358
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Scoliosis, Gait ataxia	ORPHA:476126
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Harrod Syndrome	Kyphosis, Cerebral cortical atrophy, Scoliosis	ORPHA:2115
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Weight loss	ORPHA:97287
Ménétrier Disease	Weight loss	ORPHA:2494
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Kyphosis, Cerebral atrophy, Scoliosis, Difficulty walking, Spasticity	ORPHA:464738
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Loeffler Endocarditis	Weight loss	ORPHA:75566
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Primary Hepatic Neuroendocrine Carcinoma	Neuroendocrine neoplasm, Carcinoid tumor, Weight loss	ORPHA:100085
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Fryns-Smeets-Thiry Syndrome	Patellar aplasia, Arachnodactyly, Cachexia	ORPHA:2058
Silver-Russell Syndrome	Failure to thrive in infancy, Sandal gap, Cachexia, Obesity, Abnormality of the calcaneus, Clinod...	ORPHA:813
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Short middle phalanx of fi...	OMIM:301030
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Trisomy 18	Camptodactyly of finger, Cachexia, Spina bifida, Postaxial hand polydactyly, Deviation of finger,...	ORPHA:3380
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism	OMIM:617660
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:94065
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon	ORPHA:261222
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis, Cerebral cortical atrophy	OMIM:617011
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis, Spasticity	OMIM:301040
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Pneumocystosis	Weight loss	ORPHA:723
Schinzel-Giedion Syndrome	Aganglionic megacolon, Failure to thrive in infancy, Overlapping toe, Vocal cord paralysis, Tibia...	ORPHA:798
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Felty Syndrome	Weight loss	ORPHA:47612
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Weight loss	ORPHA:465508
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ...	OMIM:607014
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Cerebral atrophy	OMIM:619244
Lymphoid Interstitial Pneumonia	Failure to thrive, Clubbing, Weight loss	ORPHA:79128
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Unsteady gait, Brain atrophy, Scoliosi...	ORPHA:90324
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Schwartz-Jampel Syndrome	Bowing of the long bones, Cachexia, Micromelia, Coxa valga, Coxa vara, Genu valgum, Blepharospasm...	ORPHA:800
Pycnodysostosis	Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis	ORPHA:763
Al Amyloidosis	Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto...	ORPHA:85443
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,...	OMIM:216400
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Refractory Celiac Disease	Weight loss	ORPHA:398063
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Cerebral atrophy, Hypertonia, Dystonia, Failure to thrive	OMIM:617248
19P13.12 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:254346
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Behçet Disease	Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia	ORPHA:117
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Failure to thrive, Weight loss	OMIM:619377
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Marshall-Smith Syndrome	Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K...	OMIM:602535
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Simple Cryoglobulinemia	Weight loss, Paresthesia, Spontaneous pain sensation	ORPHA:91139
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Multiple Myeloma	Spinal cord compression, Paresthesia, Weight loss	ORPHA:29073
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Cono-Spondylar Dysplasia	Kyphosis, Poor coordination, Scoliosis, Short neck	ORPHA:420794
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Marden-Walker Syndrome	Kyphosis, Scoliosis, Short neck	OMIM:248700
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Primary Myelofibrosis	Cachexia	ORPHA:824
Microphthalmia, Lenz Type	Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis	ORPHA:568
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Cowden Syndrome 1	Kyphosis, Scoliosis, Intention tremor	OMIM:158350
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
2Q31.1 Microdeletion Syndrome	Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis, Cerebral cor...	ORPHA:251014
Autoimmune Pulmonary Alveolar Proteinosis	Clubbing, Weight loss	ORPHA:747
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Kyphosis, D...	OMIM:133540
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Weaver Syndrome	Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity	OMIM:277590
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bod...	ORPHA:280
Pancreatoblastoma	Weight loss	ORPHA:677
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Gait disturbance, Scoliosis	ORPHA:500055
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Distal Triplication 15Q	Kyphosis, Syringomyelia, Scoliosis	ORPHA:314588
16Q24.3 Microdeletion Syndrome	Kyphosis, Optic nerve hypoplasia, Scoliosis	ORPHA:261250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Cerebral cortica...	ORPHA:457359
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere...	ORPHA:464311
Mucolipidosis Type Ii	Inability to walk, Talipes equinovarus, Weight loss	ORPHA:576
Thymoma	Weight loss	ORPHA:99867
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Ganglioneuroma	OMIM:162300
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Cystic Echinococcosis	Weight loss	ORPHA:400
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly, Chorea, Spasticity	ORPHA:1855
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Myoclonus	ORPHA:3063
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Aganglionic megacolon, Abnormal morpho...	ORPHA:84
Esophageal Atresia	Vocal cord paresis, Small for gestational age, Failure to thrive in infancy, Hypertonia, Clinodac...	ORPHA:1199
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio...	OMIM:265000
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere...	ORPHA:464306
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Fai...	ORPHA:1304
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis	ORPHA:2215
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis	OMIM:610443
Pyomyositis	Weight loss	ORPHA:764
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
Codas Syndrome	Short humerus, Short metacarpal, Metaphyseal dysplasia, Proximal placement of thumb, Genu valgum,...	OMIM:600373
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:95409
Polycythemia Vera	Weight loss	ORPHA:729
Cohen Syndrome	Kyphosis, Optic atrophy, Scoliosis	ORPHA:193
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Mgat2-Cdg	Kyphosis, Brain atrophy, Scoliosis	ORPHA:79329
Tropical Pancreatitis	Weight loss	ORPHA:103918
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Atelis Syndrome 2	Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis	ORPHA:394
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Dural ectasia	OMIM:616914
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Weight loss, Pulmonary carcino...	ORPHA:652
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi...	ORPHA:363958
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Scoliosis	OMIM:618050
Alstrom Syndrome	Kyphosis, Scoliosis	OMIM:203800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Kyphosis, Hypertonia, Gait disturbance, Scoliosis, Cereb...	ORPHA:268261
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Prader-Willi Syndrome	Poor fine motor coordination, Kyphosis, Poor gross motor coordination, Scoliosis	OMIM:176270
Degcags Syndrome	Syndactyly, Toe syndactyly, Small for gestational age, Short thumb, Preaxial hand polydactyly, Vo...	OMIM:619488
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Osteogenesis Imperfecta	Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr...	ORPHA:666
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Scoliosis	OMIM:617602
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Failure to thr...	ORPHA:649
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Cachexia	ORPHA:808
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Zollinger-Ellison Syndrome	Neuroendocrine neoplasm, Glucagonoma, Weight loss	ORPHA:913
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis	OMIM:300967
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Cystinosis, Nephropathic	Failure to thrive in infancy, Metaphyseal widening, Cerebral atrophy, Genu valgum, Weight loss	OMIM:219800
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Q Fever	Weight loss	ORPHA:781
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Weight loss	ORPHA:85408
Williams-Beuren Syndrome	Hallux valgus, Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord paraly...	OMIM:194050
Caroli Disease	Weight loss	ORPHA:53035
Feingold Syndrome 1	Short thumb, Short toe, 4-5 toe syndactyly, Vocal cord paralysis, 2-3 toe syndactyly, Short middl...	OMIM:164280
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Cachexia	ORPHA:109
Aspartylglucosaminuria	Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verte...	OMIM:208400
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture of finger, Failure to thrive, Talipes equinovarus, Weight loss	ORPHA:2020
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Cachexia, Genu varum	ORPHA:1969
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis	ORPHA:536532
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Castleman Disease	Weight loss	ORPHA:160
Addison Disease	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Malt Lymphoma	Weight loss	ORPHA:52417
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Sarcoidosis, Susceptibility To, 1	Clubbing, Optic neuropathy, Weight loss	OMIM:181000
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies...	ORPHA:818
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Primary Sclerosing Cholangitis	Depression, Weight loss	ORPHA:171
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte...	ORPHA:955
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Glucagonoma	Depression, Weight loss	ORPHA:97280
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Hypertonia, Scoliosis, Short neck	OMIM:619194
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
1P36 Deletion Syndrome	Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Gait disturbance, Scolios...	ORPHA:1606
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss	ORPHA:79078
Zttk Syndrome	Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity	OMIM:617140
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Mend Syndrome	Kyphosis, Sacral dimple, Abnormal auditory evoked potentials, Limb hypertonia	ORPHA:401973
Nijmegen Breakage Syndrome	Neurodegeneration	OMIM:251260
Immunodeficiency 31C	Weight loss	OMIM:614162
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Decreased serum iron, Dysphagia, Scoliosis, Dystonia, Stereotypical...	ORPHA:438213
Williams Syndrome	Sacral dimple, Ataxia, Involuntary movements, Hyperlordosis, Atrophy/Degeneration involving the c...	ORPHA:904
Cleidocranial Dysplasia 1	Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Abnormal central motor function, Kyphosis, Schwannoma, Dural ectasia, ...	ORPHA:97685
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Rat-Bite Fever	Weight loss	ORPHA:31205
Postinfectious Vasculitis	Weight loss, Abnormality of the peripheral nervous system	ORPHA:48435
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Reactive Arthritis	Weight loss	ORPHA:29207
Pulmonary Alveolar Microlithiasis	Clubbing of fingers, Stippled calcification in carpal bones, Weight loss	ORPHA:60025
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca...	ORPHA:99889
Juvenile Polyposis Of Infancy	Clubbing of fingers, Broad thumb, Cachexia, Broad phalanx of the toes	ORPHA:79076
Hutchinson-Gilford Progeria Syndrome	Coxa valga, Weight loss, Osteolytic defects of the distal phalanges of the hand, Shuffling gait, ...	ORPHA:740
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Dysphagia, Attention deficit hyperactivity disorder, Scoliosis, Abn...	OMIM:619522
Neurofibromatosis Type 1	Ataxia, Kyphosis, Pheochromocytoma, Scoliosis, Plexiform neurofibroma, Spinal neurofibroma	ORPHA:636
Marfan Syndrome	Arachnodactyly, Slender build, Cachexia, Dural ectasia	ORPHA:558
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Short neck	ORPHA:77301
Stickler Syndrome	Arachnodactyly, Cachexia, Hemiplegia/hemiparesis, Genu valgum, Abnormal diaphysis morphology, Sle...	ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Scoliosis	OMIM:619005
Cdags Syndrome	Kyphosis	OMIM:603116
Mend Syndrome	Kyphosis, Sacral dimple, Hypertonia	OMIM:300960
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Somatostatinoma	Weight loss	ORPHA:97283
Cowden Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:201
Parathyroid Carcinoma	Weight loss	ORPHA:143
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta	ORPHA:2911
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Subcortical ...	ORPHA:2273
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Platyspondyly, Clonus, Scoliosis	ORPHA:534
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis	OMIM:266270
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Facial palsy, Scoliosis	ORPHA:2658
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Dermatomyositis	Weight loss	ORPHA:221
Cerebrocostomandibular Syndrome	Kyphosis, Spina bifida	ORPHA:1393
Nijmegen Breakage Syndrome	Cachexia	ORPHA:647
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Premature fusion of the radial epiphyseal plates, Weight loss	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
Nocardiosis	Weight loss	ORPHA:31204
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Orthostatic hypotension	OMIM:304150
Primrose Syndrome	Neurodegeneration, Truncal obesity, Ataxia	OMIM:259050
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Coffin-Siris Syndrome 1	Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta	OMIM:135900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, ...	OMIM:194190
Sarcoidosis	Facial palsy, Weight loss	ORPHA:797
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Metatarsus valgus, Abnormal finger morp...	ORPHA:744
Acromegaly	Kyphosis, Cerebral palsy, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Cerebral palsy, Spinal canal stenosis	ORPHA:314769
Sotos Syndrome	Sacrococcygeal teratoma, Aganglionic megacolon, Tremor, Kyphosis, Poor coordination, Cerebral atr...	ORPHA:821
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Turner Syndrome Due To Structural X Chromosome Anomalies	Kyphosis, Scoliosis, Short neck	ORPHA:99413
Mosaic Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99228
Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99226
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Turner Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:881
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis	OMIM:309000
Goodpasture Syndrome	Weight loss	OMIM:233450
Branchiooculofacial Syndrome	Hyperlordosis, Kyphosis, Facial palsy, Short neck	OMIM:113620
Wrinkly Skin Syndrome	Kyphosis, Scoliosis	OMIM:278250
Viss Syndrome	Kyphosis, Butterfly vertebrae, Scoliosis	OMIM:619472
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Alström Syndrome	Optic disc pallor, Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Poor fine motor coordina...	ORPHA:64
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340

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 Uchl1

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 Uchl1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
UCHL1 Regulates Lipid and Perilipin 2 Level in Skeletal Muscle.	Frontiers in physiology (April 2022)	Uchl1^{tm1c(EUCOMM)Hmgu}	PMC9021748
Ubiquitin Carboxyl-Terminal Hydrolase L1 of Cardiomyocytes Promotes Macroautophagy and Proteostasis and Protects Against Post-myocardial Infarction Cardiac Remodeling and Heart Failure.	Frontiers in cardiovascular medicine (April 2022)	Uchl1^{tm1c(EUCOMM)Hmgu}	PMC9021418
UCHL1 regulates oxidative activity in skeletal muscle.	PloS one (November 2020)	Uchl1^{tm1a(EUCOMM)Hmgu}	PMC7605647
UCHL1 regulates muscle fibers and mTORC1 activity in skeletal muscle.	Life sciences (July 2019)	Uchl1^{tm1c(EUCOMM)Hmgu} Uchl1^{tm1a(EUCOMM)Hmgu}	31356902

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Uchl1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Uchl1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Uchl1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Uchl1 MGI:103149

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Echo

Adult LacZ

X-ray

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Uchl1 mutations

Histopathology

IMPC related publications

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