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Gene: Tardbp MGI:2387629

Gene Summary

Name:

TAR DNA binding protein

Synonyms:

1190002A23Rik, TDP-43, Tdp43

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
preweaning lethality, complete penetrance	Tardbp^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Tardbp^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.94×10^-05
decreased bone mineral density	Tardbp^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.08×10^-06
decreased blood urea nitrogen level	Tardbp^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.76×10^-05
decreased mean platelet volume	Tardbp^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.95×10^-29
abnormal startle reflex	Tardbp^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.17×10^-09
embryonic lethality prior to organogenesis	Tardbp^{tm1b(EUCOMM)Wtsi}	HOM	E9.5	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

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

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

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

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

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

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

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Echo

M-Mode Images

32 Images

View images

Embryo LacZ

LacZ images wholemount

4 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Adult LacZ

LacZ Images Wholemount

5 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Tardbp 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 Tardbp (3 diseases)
Human diseases predicted to be associated with Tardbp (1933 diseases)

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

Disease	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803

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

Disease	Matching phenotypes	Source
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo...	ORPHA:684
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par...	OMIM:607641
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne...	OMIM:612577
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm...	ORPHA:65684
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor...	ORPHA:247604
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A...	OMIM:271150
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske...	OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia	OMIM:300857
Paramyotonia Congenita	Neonatal hypotonia, Handgrip myotonia, Percussion myotonia, Paradoxical myotonia	OMIM:168300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop...	OMIM:159950
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Dementia, Disinhib...	OMIM:600274
Spastic Paraplegia 38, Autosomal Dominant	Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Babinski sign, Spastic para...	OMIM:612335
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the...	OMIM:614373
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity	OMIM:611895
Thomsen And Becker Disease	Myotonia	ORPHA:614
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ...	OMIM:608030
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp...	ORPHA:95434
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Spastic Paraplegia 62, Autosomal Recessive	Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Babinski sign, Spasti...	OMIM:615681
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,...	OMIM:608627
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Proximal amyo...	OMIM:604484
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,...	OMIM:617018
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m...	OMIM:172700
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen...	DECIPHER:29
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Distal s...	ORPHA:101010
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, P...	ORPHA:411515
Kleine-Levin Hibernation Syndrome	Polyphagia, Confusion	OMIM:148840
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Imp...	OMIM:615686
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn...	OMIM:614063
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Hypotonia, Hand tremor, Limb ataxia, Degeneration of anterior ho...	OMIM:607596
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Babinski sign, Spastic paraplegia, Ankl...	OMIM:611225
Spastic Paraplegia 31, Autosomal Dominant	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Distal sensory...	OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity	ORPHA:401805
Autosomal Recessive Spastic Paraplegia Type 76	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ...	ORPHA:488594
Autosomal Recessive Spastic Paraplegia Type 62	Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Knee flexion contract...	ORPHA:401785
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations	OMIM:619141
Huntington Disease	Bradyphrenia, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Chorea, Mental d...	ORPHA:399
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Triceps wea...	ORPHA:482601
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Babinski sign, Spastic paraplegia, Optic atrophy, Knee flexion contrac...	OMIM:615043
Obesity Due To Sim1 Deficiency	Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp...	ORPHA:369873
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Babinski sign, Spastic p...	OMIM:615658
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, ...	OMIM:616282
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal...	ORPHA:357043
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo...	ORPHA:99734
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, De...	OMIM:301830
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1	Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Impaired vibration sens...	OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ...	OMIM:601472
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Autosomal Dominant Spastic Paraplegia Type 4	Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne...	ORPHA:100985
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower...	ORPHA:276244
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Hypotonia, Scoliosis	OMIM:213000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a...	OMIM:611067
Spastic Paraplegia 77, Autosomal Recessive	Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Upper limb muscle weakness, Lower limb ...	OMIM:617046
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp...	OMIM:215470
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap...	OMIM:607225
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Inherited Creutzfeldt-Jakob Disease	Astrocytosis, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurre...	ORPHA:282166
Hypokalemic Periodic Paralysis, Type 1	Myotonia, Hypotonia	OMIM:170400
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,...	ORPHA:3115
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:612539
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Ataxia, Optic atrophy, Hypotonia, Degeneration of anterior horn cells, T...	ORPHA:2254
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond...	OMIM:620068
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric...	ORPHA:45448
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Impaired temperature sensation, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Spastic Paraplegia 2, X-Linked	Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,...	OMIM:312920
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve...	ORPHA:52430
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of...	OMIM:611890
Rippling Muscle Disease 2	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:606072
Brody Disease	Percussion myotonia, Myotonia	OMIM:601003
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ...	OMIM:620323
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal a...	OMIM:617207
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid...	OMIM:607317
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol...	OMIM:616668
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Tall stature	OMIM:618406
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ...	OMIM:270685
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations	OMIM:182980
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Dystonia, Cerebral cor...	ORPHA:98934
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Myoclonus, Dystonia, Neuronal loss in central nervous syst...	OMIM:600795
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Obesity And Hypopigmentation	Overgrowth, Polyphagia, Obesity	OMIM:620195
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Lower limb muscle weakne...	OMIM:614409
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist...	OMIM:619519
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypotonia, Tongue fasciculations, Tetrapares...	OMIM:618276
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lowe...	ORPHA:309169
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Myotonia, Potassium-Aggravated	Percussion myotonia, Handgrip myotonia, Myotonia	OMIM:608390
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Cerebral...	ORPHA:401820
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:101077
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Impaired pain sensation, Impa...	OMIM:618511
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Decreased nerve condu...	ORPHA:101078
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb muscle we...	OMIM:600361
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Foot dorsiflexor weakness, Babinski sign, Dysmetria, Clumsiness, Sp...	ORPHA:1175
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Impaired distal vibrat...	ORPHA:276435
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Flexion contracture, Limb muscl...	OMIM:609260
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Hypotonia, Limb muscle weakness, P...	OMIM:500002
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai...	ORPHA:521406
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par...	OMIM:605285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond...	OMIM:604320
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L...	ORPHA:171863
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus...	ORPHA:2590
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy, Respiratory paralysis	OMIM:158650
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Somatic sensory dysfunction, Distal lower limb muscle weakness, Impaired...	OMIM:615025
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy, Ataxia	OMIM:158500
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te...	OMIM:619686
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cerebral palsy, Ataxia, Hypotonia	ORPHA:1766
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent...	ORPHA:2589
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spinocerebellar Ataxia Type 43	Foot dorsiflexor weakness, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar at...	ORPHA:497764
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Hypotonia, Cerebral atrophy, Knee flexion...	OMIM:616286
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy, Generalized hypotonia	OMIM:619099
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn...	ORPHA:100998
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Hypotonia, Impair...	OMIM:619216
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception...	OMIM:616688
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Lower limb ...	OMIM:610357
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Acetazolamide-Responsive Myotonia	Myotonia, Hypertonia	ORPHA:99736
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter...	ORPHA:168782
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Decreased motor nerve co...	OMIM:607706
Spastic Paraplegia 76, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet...	OMIM:616907
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy	OMIM:615911
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Parkinsonism, F...	ORPHA:1320
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Tibialis anterior muscle atrophy, Babinski sign, Spastic paraplegia, Lower...	OMIM:615035
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia	ORPHA:423296
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Paresthesia, Fasciculations	ORPHA:85162
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71526
6Q16 Microdeletion Syndrome	Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Spinocerebellar Ataxia 37	Cerebellar atrophy, Frequent falls, Ataxia, Tremor	OMIM:615945
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy...	ORPHA:99014
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis	ORPHA:640
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Flexion contra...	OMIM:613162
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Episodic Ataxia, Type 2	Myotonia, Dystonia	OMIM:108500
Leptin Receptor Deficiency	Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior	OMIM:614963
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Sco...	OMIM:617087
Chromosome 22Q13 Duplication Syndrome	Short attention span, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac...	OMIM:607684
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ...	ORPHA:139578
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe...	OMIM:167320
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fas...	OMIM:183050
Gemignani Syndrome	Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation	ORPHA:2074
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis...	OMIM:616053
Myopathy, X-Linked, With Excessive Autophagy	Neonatal hypotonia, Myotonia	OMIM:310440
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Proximal muscle weakness in upper limbs, Kyphoscoliosi...	ORPHA:496689
Porphyria, Acute Hepatic	Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive	OMIM:612740
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L...	ORPHA:100999
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Dystonia, Kyphosis, Hypotonia, Cerebral atro...	OMIM:616756
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Juvenile Huntington Disease	Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar a...	ORPHA:248111
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity,...	OMIM:500001
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ...	OMIM:619150
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v...	ORPHA:94124
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia	OMIM:600116
Charcot-Marie-Tooth Disease Type 4A	Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Motor conductio...	ORPHA:99948
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Ba...	ORPHA:100988
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we...	ORPHA:101085
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Spinal muscular atrophy, Lower limb muscle weakness, F...	OMIM:615575
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a...	OMIM:617916
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Fasciculations, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio...	OMIM:618404
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Myotonia	ORPHA:209335
Spastic Ataxia 9, Autosomal Recessive	Axial hypotonia, Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria, Hypoto...	OMIM:618438
Zebra Body Myopathy	Neonatal hypotonia, Handgrip myotonia, Torticollis	ORPHA:97240
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ...	ORPHA:90103
Episodic Ataxia Type 1	Choreoathetosis, Myotonia, Hypertonia	ORPHA:37612
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Distal sensory impairment, Paralysis	OMIM:613710
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis...	OMIM:263570
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa...	OMIM:615924
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo...	OMIM:616081
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Obesity, Aggressive behavior	OMIM:620270
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Gliosis, Myoclonus, Apraxia, Abnormal upper mot...	OMIM:221770
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Scoliosis,...	OMIM:613204
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Upper limb postural tremor, Kyphoscoliosis, Gait ataxi...	OMIM:180800
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim...	OMIM:300911
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni...	OMIM:614298
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at...	ORPHA:363710
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease...	OMIM:605726
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Kyphosis, Abnormal pyramidal sign, ...	OMIM:617435
Spastic Paraplegia 3, Autosomal Dominant	Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr...	OMIM:182600
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor...	OMIM:616719
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypotonia	OMIM:613402
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Myasthenic Syndrome, Congenital, 25, Presynaptic	Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscle action potential ...	OMIM:618323
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Scoliosis,...	ORPHA:101006
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper ...	OMIM:614898
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl...	OMIM:230650
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Dystonia, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:618244
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, ...	OMIM:615157
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Lower limb spasticity, Scapular winging, Hip contracture, Spinal muscular atrophy, Hyperlordosis,...	OMIM:615290
Insulinoma	Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensation, Poly...	ORPHA:97279
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ...	OMIM:618237
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal amy...	OMIM:618387
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Severe muscular hypotonia, Hy...	OMIM:618184
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Decreased nerve conduction velocity, Diaphragmatic paralysis, Hypotonia,...	ORPHA:868
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Distal lower l...	ORPHA:100984
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Generali...	OMIM:213200
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Degeneration of the lateral corticospinal...	OMIM:604360
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Babinski sign, Optic atrophy, Distal amyotrophy, Distal lower limb muscle wea...	ORPHA:468661
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,...	ORPHA:330050
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action po...	OMIM:608673
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Axial hypotonia, Ataxia, Kyphosis, Appendicular hypotonia, Tongue fasciculations, Facial myokymia...	OMIM:620007
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cer...	ORPHA:33445
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Generalized hypotonia	OMIM:264070
Spastic Paraplegia 26, Autosomal Recessive	Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babins...	OMIM:609195
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram...	OMIM:128100
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, S...	ORPHA:100986
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Paralysis	OMIM:608634
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Peroneal muscle atrophy,...	ORPHA:171617
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Axial hypotonia, Ataxia, Small for gestational age, Kyphoscoliosis, Fail...	ORPHA:59
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p...	OMIM:618279
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia, Writer's cramp	ORPHA:324442
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus	OMIM:159900
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder	OMIM:301024
Myotonia With Skeletal Abnormalities And Mental Retardation	Myotonia	OMIM:255710
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spastic Paraplegia 79B, Autosomal Recessive	Lower limb spasticity, Myotonia, Postural tremor, Head titubation, Spastic paraplegia, Intention ...	OMIM:615491
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex...	ORPHA:137898
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti...	OMIM:164400
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial diplegia,...	OMIM:616287
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Distal sensor...	ORPHA:101081
Combined Oxidative Phosphorylation Deficiency 45	Axial hypotonia, Ataxia, Short neck, Tremor, Failure to thrive	OMIM:618951
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Hypotonia, Scoliosis, Cereb...	ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of ...	OMIM:610743
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276241
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P...	ORPHA:101097
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Obesity, Skin-picking, Polyphagia	OMIM:615547
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Flexion contracture, Hypot...	OMIM:616505
Hyperinsulinism Due To Ucp2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276556
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Spasticity, Spastic paraplegia	OMIM:615683
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Temple Syndrome	Small for gestational age, Polyphagia, Obesity	ORPHA:254516
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Percussion myotonia	ORPHA:34516
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized...	ORPHA:363717
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypotonia, My...	ORPHA:97229
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Agitation, Polyphagia, Large for gestational age	ORPHA:324575
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th...	ORPHA:139536
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Myotonic Dystrophy 1	Myotonia, Hypotonia, Generalized hypotonia	OMIM:160900
Bardet-Biedl Syndrome 9	Truncal obesity, Polydipsia, Polyphagia, Obesity	OMIM:615986
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Hypotonia, Intention tremor, Abnormality of extrapyramidal motor func...	OMIM:302500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi...	OMIM:255600
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne...	OMIM:620389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should...	OMIM:606612
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi...	OMIM:617695
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of...	ORPHA:370980
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Camptocormia, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Choreoat...	OMIM:606703
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Limb muscle weakness, Intrins...	OMIM:614895
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Proximal amyotrophy, ...	OMIM:617404
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr...	ORPHA:48431
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Babinski...	ORPHA:2596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Myotonia Permanens	Myotonia, Hypertonia	ORPHA:99735
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Hypotonia, Scoliosis, Dystonia	OMIM:618239
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276575
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Inco...	OMIM:302800
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Truncal ataxia, Cerebral atrophy, ...	ORPHA:352641
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Gait ataxia, Progres...	ORPHA:466794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276580
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Thoracic scoliosis, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:610185
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Skeletal muscle atrophy, Impaired vibratory sensation,...	ORPHA:88644
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Foot dorsiflex...	OMIM:137200
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Scoliosis, Generalized amyotrophy, Action myoclonus, Frequent falls	OMIM:616540
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Scoli...	OMIM:618811
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Hypotonia, Facial...	OMIM:609285
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign...	ORPHA:98762
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Severe muscular hypotonia, Facial palsy, Ankle flexion contr...	OMIM:617519
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Obesity	OMIM:617885
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, D...	OMIM:607136
Spinocerebellar Ataxia 2	Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyo...	OMIM:183090
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual ...	OMIM:109150
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensatio...	OMIM:619574
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Decreased ...	ORPHA:561854
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we...	OMIM:302802
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spas...	OMIM:615643
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Dystonia, Impaired pain sensation, Kyphosis, Chorea, Abnormal pyramidal sign, Cerebral atrophy, G...	ORPHA:500180
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Kyphosco...	ORPHA:99950
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hand muscle weakness, Hypoesthesia, Vocal cord paralys...	OMIM:162500
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Optic atrophy, Progr...	ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Hypotonia, Tetraplegia,...	OMIM:300816
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Fle...	OMIM:609541
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity, Cryptorchidism	OMIM:309585
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De...	OMIM:619279
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, M...	OMIM:258450
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Hand muscle weakness, Sp...	ORPHA:320355
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Cerebral cortical hemia...	ORPHA:306669
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Chorea, Slurred speech, O...	ORPHA:98755
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A...	OMIM:253310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Diaphragmatic paralysis,...	OMIM:620011
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyot...	OMIM:614487
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General...	ORPHA:71517
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Impa...	OMIM:616586
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis	ORPHA:157954
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Generalized hypotonia, Scoliosis, Type ...	OMIM:619042
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,...	OMIM:613287
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno...	ORPHA:309162
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ...	OMIM:601104
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting...	ORPHA:72
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Hypotonia, Astrocytosis, Generalized hypotonia, Slender build	OMIM:611087
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predomi...	OMIM:619028
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon...	ORPHA:314632
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibrat...	OMIM:208920
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy	OMIM:300983
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Involuntary movements, Rigidity, Abnormal pyramidal sign, Leg muscle st...	ORPHA:391411
Muscular Dystrophy, Congenital, 1B	Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto...	OMIM:604801
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak...	ORPHA:99965
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Hypotonia, Myopathy, Generalized hypotonia, Scol...	OMIM:616471
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con...	ORPHA:320406
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Axial hypotonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Facial...	OMIM:300055
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L...	ORPHA:100993
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd...	OMIM:618049
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia, Cachexia	ORPHA:1216
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex	OMIM:601068
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con...	ORPHA:75840
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment...	OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Ragged-red muscle fibers, Babinski sig...	OMIM:616924
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo...	OMIM:300696
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,...	OMIM:118300
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	OMIM:600882
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration...	OMIM:271225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Brad...	OMIM:300423
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity...	ORPHA:459033
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Pain insensitivity, Polyphagia, Obesity	ORPHA:251004
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia	ORPHA:397941
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Dysmetria	OMIM:617917
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation	OMIM:616116
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Hypotonia, Dysmetria, Myoclonus, Failure to thrive	OMIM:618251
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Severe muscular hypotonia, Involuntary movements, Tongue fasciculations,...	ORPHA:238329
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle...	OMIM:181405
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab...	OMIM:612674
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Abnormal mitochondria in mus...	ORPHA:313772
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Distal ...	OMIM:612020
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Axial hypotonia, Ataxia, Abnormality of the musculature of the lower limbs...	ORPHA:464282
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Choreoat...	OMIM:612438
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Scoliosis	OMIM:616421
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Enhancement of the C-reflex, Myoclonus	OMIM:615127
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonu...	OMIM:612016
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Axonal degeneration, Impaired distal vibration sensati...	OMIM:614436
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Spastic paraplegia, Fle...	OMIM:275900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired vibratory sensation, Atax...	OMIM:607250
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy...	OMIM:203700
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Atrophy of the spinal c...	OMIM:256840
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Hypotonia, Choreoathetos...	ORPHA:702
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Bardet-Biedl Syndrome 5	Obesity, Cognitive impairment	OMIM:615983
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, A...	ORPHA:98
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move...	ORPHA:98759
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Scoliosis, Hypomimic...	OMIM:617013
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Kyphoscoliosis, Optic atrophy, Hypotonia, Clumsiness, Tongue fasciculations...	OMIM:614707
Hypokalemic Periodic Paralysis	Myotonia	ORPHA:681
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetos...	OMIM:261640
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Abnormality of the seventh cranial nerve, Distal sensory imp...	ORPHA:90117
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Dystonia	OMIM:616684
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Pe...	OMIM:270550
Rigid Spine Syndrome	Skeletal muscle atrophy, Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contractu...	ORPHA:97244
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Dy...	OMIM:210000
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Axial hypotonia, Ataxia, Abnormal pyramidal sign, Hyp...	OMIM:618228
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tremor, Head titubati...	OMIM:312080
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Babinski sign, Slurred speech, Obesity, Dys...	ORPHA:93952
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m...	OMIM:617760
Distal Myopathy, Tateyama Type	Percussion-induced rapid rolling muscle contractions	ORPHA:488650
Luscan-Lumish Syndrome	Overgrowth, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Limb myoclonus, Hypot...	ORPHA:3095
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Allan-Herndon-Dudley Syndrome	Ataxia, Clonus, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Flexion contracture, Athe...	OMIM:300523
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand trem...	ORPHA:100996
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai...	ORPHA:88628
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, W...	ORPHA:3208
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ...	OMIM:613205
Myofibrillar Myopathy 10	Percussion myotonia	OMIM:619040
Congenital-Onset Steinert Myotonic Dystrophy	Neonatal hypotonia, Myotonia, Facial hypotonia	ORPHA:589821
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, T...	OMIM:617710
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Lower limb spasticity, Dupuytren contracture, Parkinsonism, Spastic...	ORPHA:100991
Fried Syndrome	Skeletal muscle atrophy, Hypotonia, Scoliosis, Spastic diplegia	ORPHA:85335
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Fiber type grouping, Babinski sign, Optic atro...	OMIM:271245
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Cataract-Ataxia-Deafness Syndrome	Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia	ORPHA:1368
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares...	ORPHA:480
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Myoclo...	ORPHA:391417
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Intellectual Developmental Disorder, Autosomal Dominant 1	Short attention span, Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughte...	OMIM:156200
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I...	OMIM:612736
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ...	ORPHA:401815
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Ragged-red muscle fibers, Hypotonia, Weight loss, Generalized hypotonia, Slende...	OMIM:613662
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ...	OMIM:609033
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Enhancement of the C-reflex, Giant somatosensory evoked potentials, Myoclonus	OMIM:613608
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp...	ORPHA:496756
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment	OMIM:607734
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r...	OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Optic atrophy, Hypotonia, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Ataxia, Cerebral atrophy	OMIM:618637
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Optic atrophy, Hypoton...	OMIM:617481
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Axial hypotonia, Kyphoscoliosis, Corpus callosum atrophy, Abnormal pyram...	OMIM:260600
Multiple System Atrophy	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:102
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Cho...	OMIM:604391
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dys...	ORPHA:309854
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Rigidity, Tremor, Hypotonia, Dysmetria, Gait ataxia	OMIM:618090
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Clasp-knife sign, Tibial...	ORPHA:101076
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, ...	ORPHA:98771
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Babinski sign, Abnormal pyramidal sign, Progressive ...	ORPHA:513436
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Hypotonia, Dysmetria, Gait ataxia, Generalized amyotrophy, Dystonia	OMIM:203740
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Dys...	ORPHA:438216
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Trun...	OMIM:312750
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My...	ORPHA:139485
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Abnormal repetitive mannerisms, Chorea, Attention deficit hyperactivity disorder, ...	OMIM:617600
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ...	ORPHA:70594
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu...	OMIM:162400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion...	ORPHA:258
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia	OMIM:303350
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction v...	OMIM:614932
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	OMIM:606407
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Obesity, Progressive lang...	ORPHA:163681
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g...	ORPHA:98856
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign,...	ORPHA:447760
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Myopathy, Myofibrillar, 6	Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Diaphragmatic paralysis, Kne...	OMIM:612954
Autosomal Recessive Spastic Paraplegia Type 75	Distal lower limb amyotrophy, Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Ab...	ORPHA:459056
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Abnormal t...	ORPHA:398069
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Hypotonia, Obesity, Distal sensory impairment, Scolios...	OMIM:618124
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent...	OMIM:616852
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Baralle-Macken Syndrome	Kyphosis, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy	OMIM:619255
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta...	OMIM:160150
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus...	OMIM:619092
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Gangliocytoma	Dementia, Polyphagia, Paresthesia	ORPHA:251937
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal pyramidal sign, Limb muscle weakness, Scoliosis, Weakness of fa...	ORPHA:329336
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Cebalid Syndrome	Polyphagia	OMIM:618774
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Hypotonia,...	ORPHA:1170
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Li...	OMIM:614153
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv...	ORPHA:79139
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax...	ORPHA:276198
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Hypotonia...	ORPHA:157973
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Obesity	OMIM:609734
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:98933
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus, Scoliosis	OMIM:614018
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia	OMIM:617836
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Axial hypotonia, Cachexia, Hypotonia, Gait ataxia, Weight loss, Generalized hypotonia, Failure to...	OMIM:612075
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Facial myokymia, Dystonia, Limb hypertonia	ORPHA:324588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Abnormality of extr...	OMIM:619527
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
Pulmonary Blastoma	Weight loss	ORPHA:64741
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral...	ORPHA:2047
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Hyperkalemic Periodic Paralysis	Myotonia, Hypertonia	ORPHA:682
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Agitation, Cognitive impairment, Failure to thrive, Abnormal repetitive manner...	ORPHA:927
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Cere...	ORPHA:442835
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory...	ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Upper limb ...	OMIM:605588
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia	ORPHA:3454
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Upper li...	OMIM:615284
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Myotonia, Hypotonia	ORPHA:98855
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ...	OMIM:254090
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol...	OMIM:145900
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Chromosome Xq26.3 Duplication Syndrome	Overgrowth, Polyphagia, Tall stature	OMIM:300942
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia	OMIM:618587
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Obesity	ORPHA:66628
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Developmental And Epileptic Encephalopathy 46	Axial hypotonia, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia	OMIM:617162
Harel-Yoon Syndrome	Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Distal amyotrophy, Scolios...	OMIM:617183
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tre...	ORPHA:329478
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Axial hypotonia, Truncal titubation, Babinski sign, Ab...	OMIM:610532
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity	ORPHA:589905
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,...	OMIM:614104
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast...	OMIM:616795
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc...	OMIM:620285
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98853
Obesity Due To Leptin Receptor Gene Deficiency	Polyphagia, Obesity	ORPHA:179494
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity	OMIM:162370
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Lumbar kyphosc...	OMIM:619422
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Hypotonia, Cerebral atrophy, Gait atax...	OMIM:618877
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Increased body weight, Progressive neurologic deterioration	ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Rigidity, Percussion myotonia, Hypotonia	OMIM:620275
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired...	OMIM:606002
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:227510
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy, Camptodactyly	OMIM:618453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Generalized hypotonia	ORPHA:87876
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized...	OMIM:233910
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Arthr...	ORPHA:85278
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Clonus, Babinski sign, Abnormal pyramidal si...	OMIM:616479
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia, Generalized hypotonia	OMIM:617106
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Axial hypotonia, Multiple joint contractures, Short neck, Flexion contracture...	OMIM:618065
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ata...	OMIM:614831
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A...	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ...	OMIM:616313
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop...	ORPHA:457205
Mehmo Syndrome	Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait ataxia, Difficul...	OMIM:300148
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Myotonic Dystrophy 2	Handgrip myotonia, Myotonia	OMIM:602668
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Cerebral atrophy, Congeni...	OMIM:314580
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre...	OMIM:606071
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype...	OMIM:619737
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
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,...	ORPHA:352649
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Tremor, Optic atrophy, Hypotonia, Choreoathetosis, Joint cont...	OMIM:617664
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Overweight, Abnormal repetitive mannerisms, Difficulty walking	ORPHA:280763
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Truncal obesity, Scoliosis	ORPHA:2429
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Cerebral a...	OMIM:616801
Sim1-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrum...	ORPHA:398079
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Juvenile Neuronal Ceroid Lipofuscinosis	Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss of ambulation...	ORPHA:79264
Pediatric-Onset Graves Disease	Failure to thrive, Hyperactivity, Polydipsia, Polyphagia	ORPHA:525731
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms	DECIPHER:45
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Axial hypotonia, Ataxia, T...	ORPHA:206443
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Myotonia of the upper limb	ORPHA:3101
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal s...	OMIM:607483
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe...	ORPHA:98805
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Axial hypotonia, Flexion contracture, Cerebral atrop...	OMIM:614678
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:98793
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu...	ORPHA:86812
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Hyperlordosis	OMIM:614198
Adiposis Dolorosa	Obesity, Depression	OMIM:103200
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Spinal rigidity, Centrally nucleated skel...	OMIM:602771
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:177904
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi...	OMIM:211530
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased nerve conduction velocity, Skelet...	ORPHA:101082
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Gliosis, Dystonia, Parkinsonis...	ORPHA:411602
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:177901
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Hypotonia, ...	OMIM:616239
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:620242
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin...	ORPHA:97349
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai...	ORPHA:168491
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis	ORPHA:85317
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Generalized hypotonia,...	ORPHA:845
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Hypotonia, Myoclonus	OMIM:616366
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Cerebellar atrophy, Failure to thrive, Decreased motor nerve cond...	ORPHA:99949
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Tuberculosis	Weight loss	ORPHA:3389
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Hypotonia, Myopathy, Hypertonia, Muscul...	ORPHA:559
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav...	ORPHA:98754
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Babin...	ORPHA:320375
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Prader-Willi Syndrome	Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Abdomina...	OMIM:176270
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Slurred s...	ORPHA:812
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy...	OMIM:601152
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Schindler Disease, Type I	Optic atrophy, Hypotonia, Generalized amyotrophy, Generalized hypotonia, Myoclonus, Spasticity	OMIM:609241
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized amyotrophy, Generalized hypotonia, Dystonia	OMIM:618910
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia	OMIM:618247
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Axial hypotonia, Abnormal pyr...	OMIM:615419
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Variegate Porphyria	Paralysis	OMIM:176200
Oculopharyngodistal Myopathy 4	Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var...	OMIM:619790
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,...	OMIM:616827
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis	ORPHA:2598
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Tremor, Kyphosis, Hypotonia, Gait ataxia, Macroglossia, Abdominal o...	OMIM:300354
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Failure to thrive	ORPHA:477673
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel...	ORPHA:268882
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Small for gestational age, Hypotonia, Cerebral atrophy, Athetosis, Facia...	OMIM:612073
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal pyramidal sign, Optic atrophy, Dist...	ORPHA:254930
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi...	OMIM:600430
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Decreased nerve condu...	OMIM:218000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener...	OMIM:312170
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior	OMIM:617991
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Dystonia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis,...	ORPHA:354
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Hypotonia, Titubati...	ORPHA:280210
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Trem...	ORPHA:447753
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Skeletal muscle atrophy, Parkinsonism, Facial palsy, Impaired distal propriocepti...	OMIM:157640
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Generalized hypotonia, Scoliosis...	OMIM:615834
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent...	OMIM:300986
Jaberi-Elahi Syndrome	Appendicular spasticity, Tremor, Kyphosis, Optic atrophy, Hypotonia, Dysmetria, Gait ataxia, Chor...	OMIM:617988
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms	OMIM:619317
Amyotrophy, Monomelic	Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy, Fasciculations	OMIM:602440
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Spasticity, Gait ataxia, Abnormal ...	ORPHA:247234
Nemaline Myopathy 10	Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Fatty replacement of skeletal m...	OMIM:616165
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Generalized hypotonia, Oculomo...	ORPHA:529665
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
X-Linked Acrogigantism	Increased body mass index, Tall stature, Polyphagia, Ataxia	ORPHA:300373
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Hypotonia, Obesity, Generalized hypotonia, Scoliosis, Scheuermann-like vertebral change...	OMIM:301900
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ...	OMIM:168600
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Hy...	OMIM:614871
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness	OMIM:612300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Optic atrophy, Abnormality of extrapy...	ORPHA:79279
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,...	ORPHA:96121
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Hypotonia, Truncal obesity, Hyperki...	OMIM:300957
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Hypotonia, Scoliosis, Obesity	ORPHA:276630
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis	OMIM:300861
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Spasticity	ORPHA:542310
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt...	OMIM:617114
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Hypotonia, Cerebral atrophy...	OMIM:619272
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Prader-Willi Syndrome	Impaired temperature sensation, Abdominal obesity, Attention deficit hyperactivity disorder, Fail...	ORPHA:739
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho...	OMIM:182290
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Optic disc pallor, Kyphosis, Flexion contracture, Astrocytosis, Brain at...	ORPHA:90324
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Dysmetria, Generalized hypotonia, Neonata...	OMIM:614867
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Hypotonia, Distal sensory impa...	OMIM:613559
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Ataxia-Telangiectasia	Skeletal muscle atrophy, Ataxia, Tremor, Spasticity, Failure to thrive	ORPHA:100
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	EMG: myotonic runs	ORPHA:353
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct...	OMIM:601455
Pseudohypoparathyroidism Type 1C	Polyphagia, Confusion, Paresthesia, Obesity	ORPHA:79444
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Schwartz-Jampel Syndrome, Type 1	Percussion myotonia	OMIM:255800
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation	ORPHA:251028
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Hypotonia, Inc...	OMIM:255320
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis, Ragg...	OMIM:615084
X-Linked Creatine Transporter Deficiency	Ataxia, Aganglionic megacolon, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia	ORPHA:52503
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
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertonia, Skeletal muscle atrophy, Axial hypotonia, Opisthotonus	OMIM:616896
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Hypotonia, Hypertonia, Failure to thrive	OMIM:619556
Intestinal Dysmotility Syndrome	Failure to thrive, Hypotonia, Weight loss	OMIM:620045
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Axial hypotonia, Ataxia, Postural tremor, Limb joint...	OMIM:301072
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Adnp Syndrome	Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Attent...	ORPHA:404448
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyr...	OMIM:617339
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S...	ORPHA:98673
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis, Distal sensory impa...	OMIM:607831
Idiopathic Achalasia	Weight loss	ORPHA:930
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Postural tremor, Corpus callosum atrop...	ORPHA:412057
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, ...	OMIM:618186
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Brain atrophy, Scoliosis, Decreased body weight	OMIM:278760
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Weight loss, Opisthotonus, Spasticity, Frequent falls	ORPHA:216866
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia	OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased muscle mass, Axonal degeneration, Vocal cord...	OMIM:615490
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment	OMIM:616267
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Skeletal muscle atrophy, Ata...	OMIM:617193
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Hypotonia, Myopat...	ORPHA:254875
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle...	OMIM:607155
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc...	ORPHA:99956
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem auditory evoked potentials, ...	ORPHA:206436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Cdkl5-Deficiency Disorder	Kyphosis, Abnormal muscle tone, Scoliosis, Impaired pain sensation	ORPHA:505652
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize...	ORPHA:36387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Scapular winging, Facial palsy, Flexion contracture, Clumsiness, Proximal amyotrophy, M...	OMIM:253600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Axial hypotonia, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Scoliosi...	ORPHA:496790
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Short neck, Tremor, Chorea, Optic atrophy, Hypotonia, Clumsiness, Choreoathetosis...	OMIM:615673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Cerebral cortical atrophy	OMIM:617070
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem...	ORPHA:95428
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate...	OMIM:200150
48,Xxyy Syndrome	Ataxia, Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Tall s...	ORPHA:10
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Distal amyo...	OMIM:270700
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Hypotonia, Myopathy, Scoliosis, Failure to thrive	OMIM:618234
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Hypotonia, Gai...	OMIM:620089
Pseudohypoparathyroidism Type 1A	Confusion, Obesity, Choreoathetosis, Paresthesia, Polyphagia	ORPHA:79443
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Vocal cord par...	ORPHA:397744
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cachexia	ORPHA:1933
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy, Optic atrophy, Hypotonia, Decreased body weight	ORPHA:477814
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Severe muscular hypotonia, Myopathy, Kyphoscoliosis	ORPHA:300179
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Abnormal motor nerve conductio...	ORPHA:2912
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Bab...	ORPHA:52368
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Cerebral cortical atrophy, Hyperlordosis	ORPHA:1192
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia, Dystonia	OMIM:105300
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor a...	OMIM:615217
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Hypotonia, Knee flexion contracture, Po...	OMIM:608799
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy	OMIM:613723
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Axial hypotonia, Cachexia, Short neck, Elbow flexion contracture, Spastic tetrap...	ORPHA:371364
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Hypotonia, Cerebral atrophy, ...	OMIM:614969
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Hypotonia, Dysmetria	OMIM:615578
Stuve-Wiedemann Syndrome 1	Myotonia, Hypotonia, Generalized hypotonia	OMIM:601559
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha...	OMIM:615873
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory...	ORPHA:99944
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe...	ORPHA:449291
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Kyphoscoliosis, Axonal degeneration, Distal sensory im...	OMIM:214400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Hypotonia	ORPHA:1875
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Short attention span, Overweight, Repetitive compulsive behavior, Attention deficit hyperactivity...	ORPHA:391372
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Fatal Familial Insomnia	Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Neuronal loss in ce...	OMIM:600072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Hypotonia, Generalized hypotonia, A...	OMIM:608931
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Axial hypotonia, Babinski sign, Cerebral atrophy, Hyperkinetic movements...	OMIM:616420
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip...	ORPHA:171433
Adenylosuccinase Deficiency	Cerebellar atrophy, Skeletal muscle atrophy, Hypotonia, Cerebral atrophy, Opisthotonus, Gait atax...	OMIM:103050
Non-Functioning Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:94080
Aicardi-Goutieres Syndrome 9	Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Spas...	OMIM:619487
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations	OMIM:313200
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Atrophy of the spinal cord, Paraparesi...	ORPHA:2822
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Hypotonia, Scoliosis, Failure to thrive, ...	ORPHA:370079
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hypotonia, Choreoathetosis	OMIM:612164
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive	OMIM:256700
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized...	OMIM:605013
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Hyperactivity, Obesity, Tall stature	OMIM:618089
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance	ORPHA:457240
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, Increased variability in m...	OMIM:620161
Congenital Myopathy 19	Skeletal muscle atrophy, Axial hypotonia, Facial hypotonia, Congenital contracture, Generalized h...	OMIM:618578
Ck Syndrome	Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build	OMIM:300831
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Tremor, Kyphosis, Hypotonia, Cerebral atrophy, Myopat...	OMIM:615512
Tick-Borne Encephalitis	Back pain, Speech apraxia, Skeletal muscle atrophy, Incoordination, Somatic sensory dysfunction, ...	ORPHA:297
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty w...	OMIM:123450
Galactose Epimerase Deficiency	Hypotonia, Weight loss	ORPHA:79238
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Axial hypotonia, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Sco...	ORPHA:500144
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Weight loss, Abnormal glossopharyng...	ORPHA:221098
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis, Periodic paralysis	OMIM:188580
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Truncal ataxia, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadochokin...	OMIM:617675
Lissencephaly 8	Appendicular spasticity, Skeletal muscle atrophy, Axial hypotonia, Optic atrophy	OMIM:617255
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t...	OMIM:607876
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Short neck, Kyphosis, Oculomotor apraxia, Flexion contracture, Ach...	OMIM:301041
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid...	ORPHA:324604
Progressive Supranuclear Palsy	Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Dystonia, Neuronal loss in central nervou...	ORPHA:683
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,...	OMIM:620330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dy...	OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short attention span, Obesity, Aggressive behavior	OMIM:619056
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ...	ORPHA:171436
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D...	OMIM:300260
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Sandhoff Disease	Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired ...	OMIM:268800
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab...	ORPHA:2926
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Rigidity, Hypotonia, Athetosis, Spasticity, Failure to thrive	OMIM:257200
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ...	OMIM:610883
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b...	OMIM:615656
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Obesity, Gait imbalance, Attention deficit hyperactivit...	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Decreased body weight, Ataxia, Flexion contracture, ...	OMIM:300243
Mcdonough Syndrome	Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Axial hypotonia, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scolio...	ORPHA:364028
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Hypotonia, Cervical myelopathy, Tetraparesis, ...	OMIM:617186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Weaver Syndrome	Overgrowth, Polyphagia	OMIM:277590
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas...	ORPHA:178148
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Abnormal autonomic nervous syste...	OMIM:616840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Chorea, Truncal atax...	OMIM:615356
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Optic atrophy, Tetraplegia, Fascic...	ORPHA:496641
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Tremor, Hypotonia, Syringomyelia, Scoliosis, Failure to thrive	ORPHA:94063
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele...	OMIM:620351
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia...	ORPHA:502423
Winchester Syndrome	Kyphosis	OMIM:277950
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight	OMIM:618347
Schwartz-Jampel Syndrome	Blepharospasm, Myotonia, Hypertonia	ORPHA:800
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Bradykinesia, Abnormal autonomic nervous system physiology...	ORPHA:778
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder...	OMIM:300352
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Dystonia, Sp...	ORPHA:765
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:618004
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture, Generalized hypotonia	OMIM:618658
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Spinal c...	ORPHA:370348
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Upper motor neuron dysfunction, Limb joint contracture, Kyphoscoliosis	OMIM:612079
Madras Motor Neuron Disease	Facial palsy, Babinski sign, Optic atrophy, Limb fasciculations, Distal amyotrophy	ORPHA:137867
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,...	OMIM:164310
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis	ORPHA:1545
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Skeletal muscle atrophy, Impaired vibratory sensation, Babinski sign, Slurred spe...	ORPHA:101000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K...	OMIM:618291
Snakebite Envenomation	Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis	ORPHA:449285
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormality of the vert...	ORPHA:909
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Infantile muscul...	ORPHA:324737
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica...	OMIM:300912
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hypoton...	OMIM:617527
Kleefstra Syndrome 2	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:617768
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy	ORPHA:83629
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the...	OMIM:300232
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Camptodactyly	OMIM:616737
Thyrotoxic Periodic Paralysis	Tremor, Myotonia	ORPHA:79102
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Kyphosis, Ragged-red muscle ...	ORPHA:352447
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Ragged-red muscle fib...	ORPHA:298
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly	OMIM:313420
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Skeletal muscle atrophy, Ataxia, Flexion contracture, Hypotonia, Spastic...	ORPHA:481152
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness, Somatic sensory dysfunction	OMIM:620378
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Kyphosis, Hypertonia, Firm muscles, Distal arthrogryposis, Scoliosis, Cong...	OMIM:108145
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal r...	ORPHA:261197
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Cachexia, Hypotonia, Myopathy, Distal arthrogryposis	ORPHA:42
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia	OMIM:617807
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,...	OMIM:616867
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Generalized hypotonia	OMIM:618512
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abn...	OMIM:234200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Overweight, Pica, Obsessive-compulsive trait, Abnormal ...	OMIM:617796
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Smith-Magenis Syndrome	Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis...	ORPHA:819
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Small for gestational age, Hypotonia, Cerebr...	OMIM:615471
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Limb joint contracture, Tremor...	OMIM:620327
Craniopharyngioma	Polyphagia, Obesity	ORPHA:54595
Sneddon Syndrome	Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation	OMIM:182410
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Hypotonia, Progressive spastic q...	ORPHA:521426
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Fucosidosis	Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegia, Anterio...	ORPHA:349
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp...	OMIM:618476
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Flexion contracture	OMIM:618201
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Alexander Disease	Ataxia, Clonus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram...	ORPHA:58
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Axial hypotonia, Short neck, Babinski sign, Hypotonia, Cerebral atrophy,...	OMIM:615802
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Hypotonia, Scoliosis	ORPHA:238750
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Axial hypotonia, Temporal cortical atrophy, Generalized hypotonia, Spast...	OMIM:618862
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia...	OMIM:617061
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Parkinsonism, Weight loss	OMIM:605543
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia	OMIM:616455
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia	OMIM:615300
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Agitation, Dysphagia, Decre...	OMIM:619229
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypotonia, Scoliosis	ORPHA:1548
L1 Syndrome	Hemiplegia/hemiparesis, Spasticity, Aganglionic megacolon, Skeletal muscle atrophy	ORPHA:275543
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypotonia, General...	OMIM:130060
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy...	ORPHA:2388
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Dystonia, Global brain ...	OMIM:168601
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis	OMIM:619797
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Agitation, Increased body weight, Progressive neurologic deterioration, Large for gestational age	ORPHA:263455
Distal 16P11.2 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne...	OMIM:619435
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Kyphosis, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, L...	OMIM:615980
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Severe muscular hypotonia, Flexion contracture, Abnormal muscle glycogen...	ORPHA:367
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom...	ORPHA:3299
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,...	ORPHA:476126
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Impaired pain sensation, Obesity, Self-injurious behavior, Compulsive behavi...	ORPHA:293987
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
X-Linked Intellectual Disability, Seemanova Type	Small for gestational age, Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive sp...	ORPHA:85323
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis	ORPHA:98896
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Hypotonia, Scoliosis	OMIM:300676
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,...	OMIM:609128
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Hypotonia, Cerebral atrophy, Opisthotonu...	OMIM:616271
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia, Distal low...	ORPHA:240094
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology	ORPHA:142
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Hypotonia, Cerebral...	OMIM:618443
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Gener...	ORPHA:66634
Leigh Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Involuntary movements, Multiple jo...	ORPHA:506
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Gait disturbance, Attention defi...	ORPHA:500055
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Brad...	OMIM:615530
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Axial hypotonia, Hypotonia, Cerebral atrophy, Infantile muscular hypoton...	OMIM:245400
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Failure to thrive, Frog-leg posture, Generalized hypotonia	OMIM:618603
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Obesity, Failure to thrive, Self-mutilation	ORPHA:412035
Neuraminidase Deficiency	Skeletal muscle atrophy, Slurred speech, Hypotonia, Dysmetria, Myoclonus, Generalized hypotonia	OMIM:256550
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Oculomotor apraxia, Skeletal muscle atrophy, Hypotonia	OMIM:619759
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrophy, Dysmetria, Athetosis, ...	ORPHA:572798
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail...	ORPHA:905
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex c...	OMIM:617143
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Generalized hypotonia, Failure to thrive, Global brain ...	OMIM:608776
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera...	OMIM:619575
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Generalize...	ORPHA:254892
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Athetosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spas...	OMIM:613454
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Cognitive impairment	OMIM:615994
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neuropathy	OMIM:162100
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis	ORPHA:79327
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ...	ORPHA:2635
1P36 Deletion Syndrome	Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagia, Failure to thrive, Abn...	ORPHA:1606
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Hypotonia	ORPHA:2013
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Scoliosis	ORPHA:2181
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Asparagine Synthetase Deficiency	Caudate atrophy, Axial hypotonia, Exaggerated startle response, Clonus, Optic nerve hypoplasia, T...	OMIM:615574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis	ORPHA:3085
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Oxoglutaric Aciduria	Skeletal muscle atrophy, Hypertonia, Ataxia	ORPHA:31
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion con...	OMIM:619708
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Holocarboxylase Synthetase Deficiency	Ataxia, Hypotonia, Weight loss	ORPHA:79242
Cockayne Syndrome Type 2	Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Flexion contracture, Scoliosis, Limb hy...	ORPHA:90322
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Ragged-red muscle fibers, Hypotonia...	OMIM:607426
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Mulibrey Nanism	Cachexia	ORPHA:2576
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive, Hypotonia, Short neck	ORPHA:1842
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Cystinosis	Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:213
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Eosinophilic Fasciitis	Myositis, Muscular edema, Paresthesia, Weight loss	ORPHA:3165
Morgagni-Stewart-Morel Syndrome	Memory impairment, Obesity, Cognitive impairment, Depression	ORPHA:77296
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Scoliosis	ORPHA:85293
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Obesity, Progressive gait ataxia, Paroxysmal bursts of l...	OMIM:105830
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Lynch Syndrome	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hy...	ORPHA:144
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:276621
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Severe muscular hypotonia, Poor motor coordination, Trem...	ORPHA:25
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia	OMIM:300486
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Uruguay Faciocardiomusculoskeletal Syndrome	Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C...	OMIM:300280
Alpha-Mannosidosis	Short neck, Kyphosis, Hypotonia, Macroglossia, Scoliosis	ORPHA:61
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh...	ORPHA:1001
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be...	OMIM:613174
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral de...	OMIM:230500
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Cerebral atroph...	OMIM:609029
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv...	ORPHA:508533
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Hypotonia, Cachexia, Short neck	ORPHA:1438
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Obesity, Scolios...	ORPHA:94065
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Steinert Myotonic Dystrophy	Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Neonatal hypoton...	ORPHA:273
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hy...	ORPHA:440437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Spinal rigidity, Flexion contracture, Opti...	OMIM:253800
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Hypercalcemia, Infantile, 1	Failure to thrive, Hypotonia, Weight loss	OMIM:143880
Lipodystrophy, Congenital Generalized, Type 4	Muscle mounding	OMIM:613327
Moynahan Syndrome	Cachexia	ORPHA:2574
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Lipodystrophy, Congenital Generalized, Type 1	Polyphagia, Tall stature	OMIM:608594
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity	OMIM:264120
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Hyperlordosis	ORPHA:970
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture, Scoliosis	OMIM:615704
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly	ORPHA:487796
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Kyphoscoliosis, Hypotonia, Platyspondyly, Generalized hypotonia, Scolios...	OMIM:614856
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia, Failure ...	OMIM:210210
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Tics, Failur...	OMIM:616364
Joubert Syndrome	Ataxia, Aganglionic megacolon, Tremor, Hypotonia, Abnormal form of the vertebral bodies, Scoliosi...	ORPHA:475
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Spina bifida occulta, Hypotonia	ORPHA:230839
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Dystonia, Ataxia, Short neck, Tremor, Kyphosis, Prominent prot...	OMIM:300966
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature,...	ORPHA:2020
Lipodystrophy, Congenital Generalized, Type 2	Polyphagia, Tall stature	OMIM:269700
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c...	OMIM:617301
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Kyphosis, Optic atrophy, Hypotonia, Abnormal form of the vertebral bodie...	ORPHA:192
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:3242
Trisomy 17P	Skeletal muscle atrophy, Short neck, Flexion contracture, Hypotonia, Macroglossia, Hypertonia, Sc...	ORPHA:261290
Diastrophic Dysplasia	Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H...	ORPHA:628
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip...	ORPHA:171430
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:2311
Serotonin Syndrome	Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner...	ORPHA:43116
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Hypotonia	OMIM:615511
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Ragged-red muscle fibers, Weight loss, Distal sensory impairment, Distal ...	OMIM:603041
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture	OMIM:606631
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Arthrogryposis multiplex congenita, Fa...	OMIM:232500
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Dysphagia, F...	ORPHA:319182
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Sézary Syndrome	Tremor, Skeletal muscle atrophy	ORPHA:3162
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Sotos Syndrome	Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,...	OMIM:117550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Kyphosis, Knee flexion contracture	OMIM:603387
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cere...	OMIM:615846
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Dystonia, Flexion contracture, Ragged-red muscle fibers, Rhabdomyolysis,...	ORPHA:17
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Tethered cord, Short neck, Kyphosis, Hypotonia, Dural ec...	OMIM:130720
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Joint contracture	OMIM:616881
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Paralysis	ORPHA:83601
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Beta-Ketothiolase Deficiency	Ataxia, Hypotonia, Weight loss, Extrapyramidal dyskinesia, Spasticity	ORPHA:134
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Hypotonia, Dysmetria, Failure ...	OMIM:212065
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Hypotonia, Myopath...	ORPHA:98915
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive	OMIM:613179
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Pleural Mesothelioma	Weight loss	ORPHA:50251
Follicular Lymphoma	Weight loss	ORPHA:545
Micro Syndrome	Kyphosis, Optic atrophy, Hypotonia, Scoliosis, Spasticity, Cerebral cortical atrophy	ORPHA:2510
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Dural ecta...	ORPHA:2789
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Obesity, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder	OMIM:607872
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Dystonia, Spasticity	ORPHA:2828
Refsum Disease	Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia	ORPHA:773
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp...	ORPHA:93314
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma...	OMIM:619005
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Poor coordination, Hypotonia, Scoliosis, Failure to thrive	ORPHA:420794
Clark-Baraitser syndrome	Kyphosis, Obesity, Scoliosis	OMIM:300602
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Inability to walk, Abnormal repetitive mannerisms, Short attention span	ORPHA:300570
Rauch-Steindl Syndrome	Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Trisomy 20P	Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Hypotonia, Abnormal ...	ORPHA:261318
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Melorheostosis	Skeletal muscle atrophy, Failure to thrive	ORPHA:2485
Cockayne Syndrome	Skeletal muscle atrophy, Progressive gait ataxia, Hypertonia, Congenital contracture, Gliosis, In...	ORPHA:191
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:29072
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Flexion contracture, Hypotonia, Kyphoscoliosis	ORPHA:75496
Tetrasomy 12P	Hypotonia, Cachexia, Short neck	ORPHA:884
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Increased body weight, Depression	OMIM:615830
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Hypotonia	OMIM:615433
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil...	OMIM:212066
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Hypoplasia of the musculature, ...	OMIM:254940
Nmda Receptor Encephalitis	Short attention span, Confusion, Hypersexuality, Chorea, Choreoathetosis, Agitation, Memory impai...	ORPHA:217253
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe	ORPHA:3409
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Progressive neurologic deterioration, Unsteady gait, Obesity, Cognitive impairment	OMIM:614947
Gitelman Syndrome	Ataxia, Paralysis, Rhabdomyolysis, Paresthesia, Failure to thrive	OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Appendicul...	ORPHA:2072
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures	ORPHA:2028
Camurati-Engelmann Disease	Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, ...	ORPHA:1328
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:457279
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Hypotonia, Obesity, Platyspondyly, Scoliosis, Generalized hy...	OMIM:251450
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis	ORPHA:137834
Shashi-Pena Syndrome	Kyphosis, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia	OMIM:617190
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Distal sensory impairment	OMIM:300614
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Hypotonia, Skeletal muscle atrophy	ORPHA:156
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy, Generalized hypotonia	OMIM:616828
Kennedy Disease	Skeletal muscle atrophy, Hypotonia	ORPHA:481
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Depression, Emotional lability, Abdominal obesity, Cognitive impairment, M...	ORPHA:189427
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Facial palsy, Camptodactyly of finger, Optic nerve hypoplasia, Kyphosis, O...	ORPHA:261349
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Spastic gait, Progressive spastic paraplegia	ORPHA:2821
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer...	OMIM:177170
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Infantile muscular hypotonia, Tho...	ORPHA:15
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor funct...	OMIM:612199
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss	ORPHA:324964
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Increased intramyocellular lipid dr...	OMIM:255125
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia	ORPHA:2655
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ...	OMIM:619475
Pfapa Syndrome	Weight loss	ORPHA:42642
Distal Triplication 15Q	Large for gestational age, Kyphosis, Flexion contracture, Hypotonia, Syringomyelia, Scoliosis, Ca...	ORPHA:314588
Alveolar Echinococcosis	Low back pain, Ataxia, Abnormal skeletal muscle morphology, Hemiparesis, Weight loss, Abnormality...	ORPHA:284
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Hypotonia, Cerebral atrophy	OMIM:614300
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Hypotonia, Hypertonia, Brain atrophy, Spasticity, Failure to thrive	OMIM:616539
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,...	ORPHA:1344
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur...	ORPHA:93360
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Thoracic scoliosis, Contractures of the large joints	OMIM:616716
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon...	OMIM:253220
Farber Disease	Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Brain atrophy, Infantile mu...	ORPHA:333
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Hypotonia, Weight loss, Myoclonus, Spasticity	ORPHA:20
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Kyphosis, Hypotonia, Congenital contracture, Generalized hypot...	OMIM:248700
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Flexion contracture, Macroglossia, Neurodegeneration, Cervical...	OMIM:309900
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Babinsk...	OMIM:252010
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis, Axial hypotonia, Scoliosis	ORPHA:251061
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Facial palsy, Hyperlordosis	ORPHA:3068
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Inhalational Botulism	Paralysis	ORPHA:254504
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Spasticity	OMIM:616449
Bruck Syndrome	Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis	ORPHA:2771
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Cerebral atrophy, Macroglossia, Scoliosis, In...	OMIM:301040
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Hypotonia, Gliosis, Inc...	ORPHA:26791
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive...	ORPHA:522077
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor...	ORPHA:468678
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre...	ORPHA:512
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Joint contracture	OMIM:617864
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Hypotonia, Obesity, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:254346
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Optic atrophy, Ataxia, Cachexia	ORPHA:220295
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	ORPHA:37553
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Optic atrophy, Generalized hypoton...	OMIM:618493
Giant Cell Arteritis	Optic atrophy, Ataxia, Paresthesia, Weight loss	ORPHA:397
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Hypotonia, Scoliosis	ORPHA:261144
Whipple Disease	Myositis, Ataxia, Cachexia, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb...	OMIM:219090
Takayasu Arteritis	Weight loss	ORPHA:3287
Harrod Syndrome	Kyphosis, Failure to thrive, Cerebral cortical atrophy, Scoliosis	ORPHA:2115
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de...	ORPHA:177907
Aicardi-Goutières Syndrome	Myositis, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Multiple joint contracture...	ORPHA:51
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ...	ORPHA:2916
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Scoliosis, Generalized ne...	ORPHA:813
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Neu-Laxova Syndrome	Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Sco...	ORPHA:2671
Bainbridge-Ropers Syndrome	Failure to thrive, Inability to walk, Self-injurious behavior, Disproportionate tall stature, Rec...	OMIM:615485
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Hypotonia	ORPHA:93274
Immunodeficiency 27A	Weight loss	OMIM:209950
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Hemiplegia/hemiparesis, Myositis, Weight loss	ORPHA:183
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Axial hypotonia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Hypotonia, Left ventri...	OMIM:300967
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive	ORPHA:583
Fanconi Anemia, Complementation Group D2	Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle, Attention deficit hy...	OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Small for gestational age, Vo...	OMIM:617799
Xfe Progeroid Syndrome	Cachexia, Poor coordination, Optic atrophy, Scoliosis, Failure to thrive	OMIM:610965
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Elbow flexion contracture, Skeletal muscle atrophy, Decreased body weight	OMIM:616200
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Ataxia-Telangiectasia	Ataxia, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesi...	OMIM:208900
Trisomy 13	Kyphosis, Optic atrophy, Hypotonia, Scoliosis	ORPHA:3378
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Hypotonia, Gait ataxia, S...	OMIM:617011
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Rift Valley Fever	Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Marshall-Smith Syndrome	Thoracic scoliosis, Axial hypotonia, Failure to thrive, Optic nerve hypoplasia, Kyphoscoliosis, H...	OMIM:602535
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior	OMIM:301066
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Weight loss	ORPHA:77297
Polymyositis	Weight loss, Hypotonia, Abnormal muscle fiber morphology	ORPHA:732
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity, Skeletal muscle atrophy	OMIM:219080
Fryns-Smeets-Thiry Syndrome	Cachexia, Hypotonia, Scoliosis	ORPHA:2058
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy	ORPHA:1969
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Hypotonia, Myopathy...	OMIM:162300
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity, Hypotonia	ORPHA:127
Dpagt1-Cdg	Ataxia, Diffuse optic disc pallor, Tremor, Flexion contracture, Optic atrophy, Hypertonia, Campto...	ORPHA:86309
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Hypotonia, Myopath...	ORPHA:1358
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Optic atrophy, H...	ORPHA:280
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Aredyld Syndrome	Cachexia, Scoliosis	ORPHA:1133
Poems Syndrome	Papilledema, Weight loss, Paresthesia, Hyperesthesia, Sclerotic vertebral endplates	ORPHA:2905
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det...	ORPHA:580
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Hypotonia, Weight loss, Lower-limb joint contracture, Apraxia, Arthrogryposis multiplex c...	ORPHA:99885
3C Syndrome	Short neck, Kyphosis, Hemivertebrae, Hypotonia, Optic atrophy, Scoliosis	ORPHA:7
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp...	ORPHA:763
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
8P23.1 Microdeletion Syndrome	Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck	ORPHA:251071
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypo...	ORPHA:2215
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy, Generalized hypotonia	ORPHA:85329
Leishmaniasis	Weight loss	ORPHA:507
Kaposi Sarcoma	Weight loss	ORPHA:33276
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Igg4-Related Aortitis	Low back pain, Weight loss	ORPHA:449400
Osteosarcoma	Weight loss	ORPHA:668
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to...	ORPHA:464311
Multiple Myeloma	Spinal cord compression, Vertebral compression fracture, Paresthesia, Weight loss	ORPHA:29073
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Tremor, Choreoathetosis, Myoclonus, Infan...	ORPHA:1934
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Hypotonia, Fu...	ORPHA:1724
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Skeletal muscle atrophy, Short neck, Hypotonia, Cerebral atrophy, Generalized...	OMIM:608779
Chronic Beryllium Disease	Weight loss	ORPHA:133
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange...	OMIM:607015
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Aplasia/Hypoplasia of the ab...	ORPHA:2990
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ...	OMIM:617330
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han...	OMIM:610443
3M Syndrome	Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo...	ORPHA:457359
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Cap Polyposis	Weight loss	ORPHA:160148
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi...	OMIM:305620
Bullous Pemphigoid	Weight loss	ORPHA:703
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia, Failure...	OMIM:617248
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Scoliosis	OMIM:615381
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painle...	OMIM:256810
Spondyloenchondrodysplasia	Kyphosis, Platyspondyly, Chorea, Spasticity	ORPHA:1855
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Hypotonia, Cerebral atrophy	OMIM:619244
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Congenital Tufting Enteropathy	Optic disc coloboma, Failure to thrive, Weight loss	ORPHA:92050
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Neur...	OMIM:607014
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Hypotonia, Scoliosis	ORPHA:404440
Loeffler Endocarditis	Left ventricular hypertrophy, Weight loss	ORPHA:75566
Polyarteritis Nodosa	Weight loss	ORPHA:767
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Cachexia, Hypotonia, Hype...	ORPHA:3380
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Cockayne Syndrome B	Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Tremor, Kyphosis, Decreas...	OMIM:133540
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Obesity, Short neck	ORPHA:110
Cowden Syndrome 1	Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Hypotonia, Abnormal curvature...	ORPHA:168572
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619777
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Spasticity, Contracture of the proximal interph...	ORPHA:464738
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Ataxia, Abnormal auditory evoked potentials, Tremor, Kyphosi...	OMIM:216400
Cystic Echinococcosis	Abnormality of the vertebral column, Abnormality of the diaphragm, Weight loss	ORPHA:400
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive	OMIM:617602
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Hand muscle atrophy, Sacral dimple, Small for gestational age, Spina bifida, Hype...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Hand muscle atrophy, Sacral dimple, Small for gestational age, Spina bifida, Hype...	ORPHA:363958
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia	ORPHA:1860
Al Amyloidosis	Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Postural hypotension wit...	ORPHA:85443
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging, Hypotonia, Dural ectasia	OMIM:616914
Bardet-Biedl Syndrome 12	Obesity, Cognitive impairment	OMIM:615989
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Dystonia	ORPHA:79255
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Cachexia, Hypotonia, Myopathy, Scoliosis	ORPHA:109
Walker-Warburg Syndrome	Skeletal muscle atrophy, Optic atrophy, Hypotonia, Muscular dystrophy, Aplasia/Hypoplasia involvi...	ORPHA:899
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Camurati-Engelmann Disease	Skeletal muscle atrophy, Cranial nerve compression, Scoliosis, Optic nerve compression, Slender b...	OMIM:131300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis	OMIM:617821
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity	OMIM:301030
Cohen Syndrome	Failure to thrive in infancy, Kyphosis, Optic atrophy, Hypotonia, Obesity, Scoliosis	ORPHA:193
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck...	OMIM:265000
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Small for gestational age, Cerebral atrophy, Generalized hypotonia, Fail...	OMIM:618252
Fanconi Anemia, Complementation Group E	Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle	OMIM:600901
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Camptodactyly of finger, Hypotonia, Scoliosis	OMIM:619951
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Mucolipidosis Type Ii	Hip contracture, Axial hypotonia, Diastasis recti, Kyphosis, Knee flexion contracture, Weight los...	ORPHA:576
Aspartylglucosaminuria	Kyphosis, Hypotonia, Cerebral atrophy, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Sc...	OMIM:208400
Yao Syndrome	Weight loss	OMIM:617321
Mgat2-Cdg	Kyphosis, Hypotonia, Generalized hypotonia, Brain atrophy, Scoliosis, Failure to thrive	ORPHA:79329
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Optic disc coloboma, Hypotonia, Vertebral segmenta...	ORPHA:251014
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Severe muscular hypotonia, Diastasis recti, Short neck, Macroglossia, Sc...	ORPHA:488632
Marfan Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Hypotonia, Dural ectasia, Scoliosis, Slender build, ...	ORPHA:558
Duane Retraction Syndrome	Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,...	ORPHA:233
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies	ORPHA:2050
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Small for gestational age, Poor coordination, Flexion contracture, Spast...	OMIM:309590
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the verte...	ORPHA:2461
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Weight loss	ORPHA:465508
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, Hypotonia	OMIM:616294
Congenital Myopathy 13	Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur...	OMIM:255995
Fanconi Anemia, Complementation Group A	Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle	OMIM:227650
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t...	OMIM:619512
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Imerslund-Gräsbeck Syndrome	Failure to thrive, Hypotonia, Weight loss	ORPHA:35858
Riddle Syndrome	Weight loss, Ataxia, Poor hand-eye coordination, Clumsiness	ORPHA:420741
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms, Obesity, Difficulty walking	OMIM:618653
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Generalized hypotonia, Failure to t...	ORPHA:401973
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnor...	ORPHA:828
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Hypotonia, Knee flexion contrac...	OMIM:619194
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Nephroblastoma	Weight loss	ORPHA:654
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Microphthalmia, Lenz Type	Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scoliosis	ORPHA:568
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Hypotonia, Increased body w...	ORPHA:79240
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Donohue Syndrome	Severe failure to thrive, Skeletal muscle atrophy	OMIM:246200
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormality of peripheral nerve conduction	ORPHA:168563
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur...	ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv...	ORPHA:464306
Felty Syndrome	Weight loss	ORPHA:47612
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Failure to thrive in infancy, Aganglionic megacolon, Kyphoscoliosis, Sho...	ORPHA:798
Pemphigus Vulgaris	Weight loss	ORPHA:704
Short Syndrome	Weight loss	ORPHA:3163
Alström Syndrome	Somatic sensory dysfunction, Ataxia, Obesity, Truncal obesity, Cognitive impairment, Polyphagia	ORPHA:64
Genitopalatocardiac Syndrome	Kyphosis, Congenital diaphragmatic hernia, Scoliosis	ORPHA:2075
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:607598
Ménétrier Disease	Weight loss	ORPHA:2494
Noonan Syndrome 14	Kyphosis, Scapular winging, Hypotonia, Short neck	OMIM:619745
Fanconi Anemia, Complementation Group C	Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle	OMIM:227645
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Ataxia, Small for gestational age, Failure to thrive in infancy, Kyphosis, Hyperto...	ORPHA:268261
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Failure to thrive	OMIM:615934
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Generalized hypoto...	OMIM:618050
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hypotonia, Failu...	ORPHA:264580
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Mend Syndrome	Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Failure to thrive	OMIM:300960
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypotonia, Hypertonia, Myoclonus, ...	ORPHA:284339
Wolman Disease	Cachexia	ORPHA:75233
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Refractory Celiac Disease	Weight loss	ORPHA:398063
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Kyphosis, Myoclonus, Infantile musc...	ORPHA:3063
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Flex...	ORPHA:666
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive, Hypotonia	OMIM:239000
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss	ORPHA:85450
Thymoma	Myositis, Weight loss	ORPHA:99867
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Hypotonia, Myopathy, Type 1 mu...	OMIM:614557
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Erdheim-Chester Disease	Ataxia, Weight loss	ORPHA:35687
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Zttk Syndrome	Kyphosis, Flexion contracture, Hemivertebrae, Hypotonia, Optic atrophy, Scoliosis, Neonatal hypot...	OMIM:617140
Distal Renal Tubular Acidosis	Failure to thrive, Paralysis	ORPHA:18
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Failure to thrive, Scoliosis	OMIM:615895
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:199299
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Pneumocystosis	Weight loss	ORPHA:723
Gitelman Syndrome	Failure to thrive, Rhabdomyolysis, Paresthesia, Paralysis	ORPHA:358
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Kinsship Syndrome	Failure to thrive, Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Juvenile Dermatomyositis	Calcinosis, Myositis, Hypotonia, Weight loss	ORPHA:93672
Alstrom Syndrome	Kyphosis, Truncal obesity, Scoliosis	OMIM:203800
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight	OMIM:182210
Brucellosis	Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Sac...	ORPHA:1304
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Failure to thrive	ORPHA:90045
Behçet Disease	Myositis, Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia	ORPHA:117
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Atelis Syndrome 2	Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis	OMIM:619557
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Hypotonia, Abnormality of the ...	ORPHA:77301
16Q24.3 Microdeletion Syndrome	Kyphosis, Optic nerve hypoplasia, Scoliosis	ORPHA:261250
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Hypo...	ORPHA:536532
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint...	OMIM:601701
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Hypotonia	OMIM:619743
Primary Myelofibrosis	Cachexia	ORPHA:824
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture	ORPHA:39812
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Hypotonia, Weight loss	ORPHA:95409
Werner Syndrome	Skeletal muscle atrophy, Slender build	ORPHA:902
Becker Muscular Dystrophy	Skeletal muscle atrophy	ORPHA:98895
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Cushing Disease	Increased body weight, Depression, Emotional lability, Truncal obesity, Abdominal obesity, Dement...	ORPHA:96253
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Glioma, Cachexia, Rhabdomyosarcoma, Short neck	ORPHA:647
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis	ORPHA:394
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Cowden Syndrome	Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive	ORPHA:201
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial instability, Hyp...	ORPHA:536545
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte...	ORPHA:955
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Cystinosis, Nephropathic	Skeletal muscle atrophy, Failure to thrive in infancy, Cerebral atrophy, Weight loss, Myopathy, O...	OMIM:219800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Kyphosis, Optic atrophy, Hypo...	ORPHA:818
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Moebius Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Hypotonia, Arthrog...	ORPHA:570
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb...	OMIM:259770
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Exaggerated startle response, Osteoporosis, Dystonia, Anemia	ORPHA:438213
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Failure ...	ORPHA:534
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent...	OMIM:259050
Immunodeficiency 31C	Skeletal muscle atrophy, Weight loss	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Abnormality of the cervical spine, Weight loss	ORPHA:85408
Rat-Bite Fever	Back pain, Tendonitis, Weight loss	ORPHA:31205
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture	OMIM:619183
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Fanconi Anemia	Aganglionic megacolon, Spina bifida, Scoliosis, Weight loss	ORPHA:84
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Decreased body weight	ORPHA:89842
Seckel Syndrome	Cachexia, Scoliosis	ORPHA:808
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Weight loss	ORPHA:49041
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Williams Syndrome	Sacral dimple, Ataxia, Involuntary movements, Failure to thrive in infancy, Hyperlordosis, Atroph...	ORPHA:904
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypotonia, Hypertonia, Scoliosis, Failure to thrive, Cerebral co...	ORPHA:649
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx, ...	OMIM:249420
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Familial Pancreatic Carcinoma	Back pain, Weight loss	ORPHA:1333
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Decreased muscle mass, Small for gestational age,...	OMIM:194190
17Q11 Microdeletion Syndrome	Abnormal central motor function, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Kyphosis, Dural ect...	ORPHA:97685
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly	OMIM:616894
Polycythemia Vera	Weight loss	ORPHA:729
Klatskin Tumor	Weight loss	ORPHA:99978
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont...	OMIM:143095
Recon Progeroid Syndrome	Skeletal muscle atrophy	OMIM:620370
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He...	ORPHA:2911
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Cleidocranial Dysplasia 1	Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight	OMIM:266270
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Dementia, Memor...	ORPHA:99889
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Leprosy	Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, A...	ORPHA:548
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ...	ORPHA:2232
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Failure to thrive in infancy, Cachexia	ORPHA:37042
Pyomyositis	Myositis, Weight loss	ORPHA:764
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Abnormality o...	ORPHA:2273
Primary Sclerosing Cholangitis	Generalized amyotrophy, Weight loss	ORPHA:171
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia	OMIM:616268
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Kyphosis, Paresthesia, Scoliosis	ORPHA:636
Q Fever	Weight loss	ORPHA:781
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol...	ORPHA:1507
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Failure to thrive, Truncal obesity, Hypotonia	OMIM:222700
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ...	ORPHA:3042
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Microsporidiosis	Myositis, Cachexia, Weight loss	ORPHA:2552
Acromegaly	Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia	ORPHA:963
Somatomammotropinoma	Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia	ORPHA:314769
Caroli Disease	Weight loss	ORPHA:53035
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Camptodactyly	OMIM:619123
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Addison Disease	Orthostatic hypotension, Failure to thrive, Weight loss	ORPHA:85138
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Dermatomyositis	Inflammatory myopathy, Hypotonia, Weight loss	ORPHA:221
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Castleman Disease	Weight loss	ORPHA:160
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Aganglionic megacolon, Ankle flexion contr...	ORPHA:821
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Somatic sensory dysfunction, Failure to thrive, Paresthesia	ORPHA:3260
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Facial palsy, Hypotonia, Scoliosis	ORPHA:2658
Ogden Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:300855
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity	OMIM:612474
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Neonat...	OMIM:309000
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Optic nerve compression, Abnormality of the extraocular muscles, Weight loss	ORPHA:79078
Cerebrocostomandibular Syndrome	Kyphosis, Spina bifida	ORPHA:1393
Coffin-Siris Syndrome 1	Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Gait ataxia, Scoliosis, Spin...	OMIM:135900
Cdags Syndrome	Kyphosis	OMIM:603116
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Multiple Endocrine Neoplasia Type 1	Cranial nerve compression, Ependymoma, Weight loss	ORPHA:652
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Postinfectious Vasculitis	Abnormality of the peripheral nervous system, Weight loss	ORPHA:48435
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Hellp Syndrome	Increased body weight	ORPHA:244242
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Kyphosis, Hypotonia, Scoliosis, Failure to thrive	OMIM:278250
Pancreatoblastoma	Weight loss	ORPHA:677
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Hypotonia, Scoliosis	OMIM:619482
Juvenile Polyposis Of Infancy	Cachexia, Generalized hypotonia	ORPHA:79076
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Tropical Pancreatitis	Weight loss	ORPHA:103918
Reactive Arthritis	Weight loss	ORPHA:29207
Coffin-Lowry Syndrome	Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight	OMIM:303600
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Hypotonia, Scoliosis	ORPHA:198
Ppoma	Weight loss	ORPHA:97278
Coffin-Siris Syndrome 12	Failure to thrive, Abnormal repetitive mannerisms	OMIM:619325
Atypical Werner Syndrome	Skeletal muscle atrophy, Calf muscle hypertrophy, Decreased body weight, Failure to thrive, Abnor...	ORPHA:79474
Leprechaunism	Skeletal muscle atrophy, Failure to thrive, Axial hypotonia, Decreased body weight	ORPHA:508
Somatostatinoma	Weight loss	ORPHA:97283
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Flexion contracture, Elbow f...	OMIM:256040
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Orthostatic hypotension	OMIM:304150
Malt Lymphoma	Weight loss	ORPHA:52417
Parathyroid Carcinoma	Weight loss	ORPHA:143
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Vipoma	Weight loss	ORPHA:97282
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Weight loss	OMIM:181000
Proteus Syndrome	Decreased muscle mass, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myof...	ORPHA:744
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Nocardiosis	Weight loss	ORPHA:31204
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:881
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Decreas...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Failure to thri...	ORPHA:261537
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Sarcoidosis	Facial palsy, Weight loss	ORPHA:797
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
Carney Complex	Testicular neoplasm, Increased body weight, Testicular adrenal rest tumor, Oligozoospermia, Abdom...	ORPHA:1359
Chronic Graft Versus Host Disease	Flexion contracture, Weight loss	ORPHA:99921
Pierson Syndrome	Skeletal muscle atrophy, Hypotonia	OMIM:609049
Viss Syndrome	Kyphosis, Hypotonia, Macroglossia, Scoliosis, Failure to thrive, Contracture of the proximal inte...	OMIM:619472
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Failure to thri...	ORPHA:261552
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture	OMIM:113620
Yunis-Varon Syndrome	Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy...	OMIM:216340
Tropical Endomyocardial Fibrosis	Cachexia, Myocardial calcification	ORPHA:75565
Goodpasture Syndrome	Weight loss	OMIM:233450

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 Tardbp

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 Tardbp.

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

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

MGI Allele	Allele Type	Produced
Tardbp^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Tardbp^em1H	Indel	Mice
Tardbp^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tardbp^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Tardbp^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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: Tardbp MGI:2387629

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Echo

Embryo LacZ

X-ray

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Tardbp mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data