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Gene: Zfp106 MGI:1270153

Gene Summary

Name:

zinc finger protein 106

Synonyms:

Cd-1, sirm, Sh3bp3, H3a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased thermal nociceptive threshold	Zfp106^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.44×10^-16
decreased body weight	Zfp106^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.76×10^-09
increased circulating calcium level	Zfp106^{tm1a(KOMP)Wtsi}	HET	Early adult	3.98×10^-08
abnormal external female genitalia morphology	Zfp106^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.52×10^-06
abnormal posture	Zfp106^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.85×10^-12
abnormal gait	Zfp106^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.06×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

16 Images

View images

Legacy Phenotype Associated Images

Zfp106^{tm1a(KOMP)Wtsi}
forearm, WT, Male, WTSI

Zfp106^{tm1a(KOMP)Wtsi}
body, WT, Male, WTSI

Zfp106^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Zfp106^{tm1a(KOMP)Wtsi}
body, WT, Male, WTSI

View all 152 images

Zfp106^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Zfp106^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Zfp106 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 Zfp106 (0 diseases)
Human diseases predicted to be associated with Zfp106 (1872 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp106 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Adamantinoma	Hypercalcemia	ORPHA:55881
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu...	ORPHA:98856
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re...	OMIM:614436
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ...	OMIM:302800
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ...	ORPHA:90103
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Quadriceps ...	ORPHA:482601
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric...	ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro...	OMIM:607641
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Distal sensory impai...	OMIM:615043
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle...	ORPHA:52430
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Microcytic anemia, Axonal degeneration, Distal amyotrophy, Falls, To...	OMIM:618811
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ...	ORPHA:401768
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne...	OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal sensory impairmen...	OMIM:616280
Spastic Paraplegia 62, Autosomal Recessive	Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Babinski sign, Tip-to...	OMIM:615681
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo...	OMIM:608030
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, C...	OMIM:607596
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large p...	OMIM:208920
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Autosomal Recessive Spastic Paraplegia Type 62	Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Knee flexion contract...	ORPHA:401785
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,...	OMIM:608627
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Opti...	OMIM:615658
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,...	OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic...	OMIM:615025
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spast...	OMIM:611225
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Spastic Paraplegia 38, Autosomal Dominant	Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire...	OMIM:612335
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal...	ORPHA:357043
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn...	OMIM:614373
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin...	OMIM:611105
Neuronopathy, Distal Hereditary Motor, X-Linked	Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnormal peripheral nervous sy...	OMIM:300489
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm...	ORPHA:65684
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy, Spastic paraplegia, Impaired distal vibration sensation, Babinski sign, ...	OMIM:616282
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d...	OMIM:616155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Impaired temperature sensation, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski...	ORPHA:101010
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai...	OMIM:615686
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc...	OMIM:608358
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-...	OMIM:616228
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske...	OMIM:619733
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia...	OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2W	Distal sensory impairment, Distal amyotrophy, Steppage gait, Gait disturbance, Hammertoe	OMIM:616625
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy...	OMIM:500002
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant...	ORPHA:2254
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc...	OMIM:614881
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	ORPHA:101077
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skelet...	OMIM:248800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity,...	ORPHA:86812
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Motor axonal ne...	OMIM:618276
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp...	ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
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
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Centrally nucleated skeletal muscle fibers, Impai...	OMIM:619574
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ...	OMIM:601472
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl...	OMIM:255200
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness	OMIM:618036
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased mot...	ORPHA:3115
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy...	OMIM:604168
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1	Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Hypertonia, Chronic axon...	OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased d...	OMIM:607684
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ...	ORPHA:488594
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond...	OMIM:620068
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act...	OMIM:301830
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ...	OMIM:600361
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Inability t...	OMIM:617066
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
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d...	ORPHA:309169
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
Spastic Paraplegia 31, Autosomal Dominant	Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory...	OMIM:610250
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower...	ORPHA:276244
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity	ORPHA:401805
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:612539
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist...	OMIM:619519
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr...	ORPHA:101097
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal ...	OMIM:615035
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle...	OMIM:616040
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Generalized amyotrophy, Loss of ambulation, Scapular winging, Lumbar hyperlordosis, Fa...	OMIM:167320
Autosomal Dominant Spastic Paraplegia Type 4	Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne...	ORPHA:100985
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,...	ORPHA:435387
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,...	OMIM:312920
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity	OMIM:611895
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance	ORPHA:1766
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai...	ORPHA:88628
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual ...	OMIM:109150
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit...	OMIM:608423
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy, Ataxia	OMIM:158500
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy...	ORPHA:468661
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp...	OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:255160
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber...	OMIM:616924
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn...	OMIM:607317
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,...	OMIM:617207
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai...	OMIM:618369
Charcot-Marie-Tooth Disease Type 4A	Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Motor conductio...	ORPHA:99948
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat...	OMIM:616668
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ...	OMIM:182980
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s...	OMIM:607706
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th...	ORPHA:139536
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid con...	ORPHA:171439
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,...	OMIM:600794
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus...	OMIM:300717
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky...	ORPHA:101078
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma...	OMIM:236792
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista...	OMIM:608673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper...	OMIM:608323
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege...	OMIM:615643
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa...	OMIM:609285
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera...	OMIM:618184
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Decreased n...	OMIM:614895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un...	OMIM:608099
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, R...	OMIM:607136
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis	OMIM:158580
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p...	OMIM:618279
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxi...	ORPHA:101081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations	OMIM:619141
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Hyperlordosis, Sc...	OMIM:611067
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu...	OMIM:162100
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty...	ORPHA:596
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Spastic Paraplegia 77, Autosomal Recessive	Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ...	OMIM:617046
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Myopathy, Centronuclear, 4	Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra...	OMIM:619065
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep...	OMIM:620389
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro...	OMIM:607731
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro...	ORPHA:401820
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisi...	ORPHA:330050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F...	OMIM:615575
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Gemignani Syndrome	Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation	ORPHA:2074
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I...	OMIM:619216
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Unsteady gait, Cerebellar vermis atrophy, Babinski sign, Dysmetria,...	ORPHA:1175
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Small hypothenar eminenc...	OMIM:609311
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Lower limb spasticity, Spinal...	OMIM:615290
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul...	OMIM:618823
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus...	OMIM:607677
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct...	OMIM:600882
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ...	OMIM:618387
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,...	OMIM:302801
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra...	OMIM:160500
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Short neck, Tho...	OMIM:619542
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of...	ORPHA:370980
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Optic atrophy, Spastic parap...	OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,...	OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,...	OMIM:618400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce...	OMIM:600795
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ...	ORPHA:139578
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Overwei...	ORPHA:486815
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli...	OMIM:619042
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we...	ORPHA:101085
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ...	OMIM:620323
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Abnormal ma...	ORPHA:353
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Glios...	OMIM:221820
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia	ORPHA:157973
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet...	OMIM:616907
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,...	OMIM:118300
Myopathy, Myofibrillar, 5	Waddling gait, Abnormal peripheral nervous system morphology, Muscle fiber cytoplasmatic inclusio...	OMIM:609524
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia	OMIM:613402
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Syndactyly, Onion bulb formation, Decreased nerve conduction velocity, D...	OMIM:615284
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa...	OMIM:614399
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn...	ORPHA:100998
Benign Samaritan Congenital Myopathy	Lethargy, Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skelet...	ORPHA:324581
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ...	OMIM:270685
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Impaired distal proprioception, Abnormal pyramidal sig...	OMIM:616688
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m...	ORPHA:238329
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne...	OMIM:608340
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Spas...	OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy...	ORPHA:99014
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Adducted thumb, Babinski sign, Spa...	OMIM:612936
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc...	ORPHA:254886
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho...	ORPHA:909
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Inabili...	ORPHA:2596
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Scoliosis, Loss of ambulation, Failure to thrive, Ske...	OMIM:619518
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Spasticity	OMIM:615683
Nemaline Myopathy 6	Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies	OMIM:609273
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N...	OMIM:616239
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent...	ORPHA:2589
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosi...	ORPHA:496689
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
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
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Imp...	ORPHA:99013
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:99953
Merrf	Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta...	OMIM:620351
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Ac...	OMIM:617258
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet...	ORPHA:169189
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign,...	OMIM:614409
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired proprioception, ...	ORPHA:251282
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe...	OMIM:613710
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Lower limb muscl...	OMIM:610357
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Short neck, Kyphosis, Sp...	ORPHA:75840
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Parkinsonism, F...	ORPHA:1320
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity...	ORPHA:845
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co...	OMIM:617519
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Steppage gait, Tongue fasciculations, Foot dorsiflexor...	OMIM:145900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio...	OMIM:616505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v...	ORPHA:94124
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy	OMIM:619099
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni...	OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ...	OMIM:612937
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decr...	OMIM:607250
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate...	OMIM:271245
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter	OMIM:617235
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy, Respiratory paralysis	OMIM:158650
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigi...	OMIM:255600
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Scoliosis, Cerebral cortica...	ORPHA:1188
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Gliosis, Myoclon...	OMIM:221770
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
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased...	OMIM:125250
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai...	ORPHA:521406
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Kyphosco...	ORPHA:99950
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Impaired proprioception, Hoffmann sign, Dysmetria, Loss of ambulation, Inten...	OMIM:615491
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast...	OMIM:604360
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity,...	OMIM:500001
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Paresthesia, Fasciculations	ORPHA:85162
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal auto...	ORPHA:97229
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Peripheral axonal neuropathy, Lowe...	OMIM:619686
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,...	OMIM:500003
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Myopathy, Gliosis, Brain atrophy, Limb dystonia, Increased ...	OMIM:604377
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr...	ORPHA:48431
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle ...	OMIM:616479
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis	OMIM:615515
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental peripheral demyelination/remye...	OMIM:606483
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata...	OMIM:617193
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S...	OMIM:617072
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag...	OMIM:607678
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Chorea, Impaired proprioc...	ORPHA:98755
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co...	ORPHA:258
Adrenomyeloneuropathy	Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract...	ORPHA:139399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Flexion contracture, Ce...	ORPHA:79243
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e...	ORPHA:275864
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac...	ORPHA:2590
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:100999
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ...	OMIM:619028
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, I...	ORPHA:99939
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona...	ORPHA:206594
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:171863
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t...	ORPHA:457205
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Proximal amyotrophy, Tip-toe gai...	OMIM:617404
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl...	OMIM:230650
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia,...	OMIM:616719
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno...	ORPHA:309162
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Flexion contracture...	OMIM:609541
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Sp...	ORPHA:100988
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia	ORPHA:438134
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease...	OMIM:605726
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Small for gestational age, Rocke...	OMIM:214150
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abnormal autonomic nervous s...	OMIM:614498
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Impaired distal vibration sensation, Hoffmann sign, Abnormal pyramidal sign, Dysmetria, B...	OMIM:618438
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait distu...	ORPHA:101006
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Hypertonia, Gliosis, Myoclonus, Spasticity	OMIM:225753
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Distal sensory i...	ORPHA:399086
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Ane Syndrome	Multiple joint contractures, Ulnar deviation of the hand, Kyphoscoliosis, Motor neuron atrophy, G...	ORPHA:157954
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Sensory axonal...	OMIM:137200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh...	OMIM:300580
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo...	OMIM:616081
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle...	ORPHA:97240
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst...	ORPHA:98934
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract...	OMIM:618323
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:604563
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait...	OMIM:620378
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity	OMIM:545000
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Peroneal muscle atrophy, Degeneration of the lateral corticospinal tracts,...	ORPHA:171617
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm...	ORPHA:98897
Rigid Spine Syndrome	Waddling gait, Hip contracture, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Elbow fl...	ORPHA:97244
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra...	OMIM:603511
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we...	OMIM:302802
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Peroneal muscle atrophy, Degeneration of the lateral corticospinal...	ORPHA:100989
Muscle Filaminopathy	Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus...	ORPHA:171445
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata...	ORPHA:466794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Loss ...	OMIM:253700
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas...	OMIM:183050
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Spinal rigidi...	OMIM:254090
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy...	OMIM:616287
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Perip...	OMIM:616684
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas...	OMIM:300816
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610951
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Impaired vibratory sensation, Chronic axonal neuropa...	ORPHA:88644
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Dista...	OMIM:311070
Developmental And Epileptic Encephalopathy 14	Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti...	OMIM:614959
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
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,...	ORPHA:90117
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
Epilepsy, Progressive Myoclonic, 9	Short thumb, Gait ataxia, Generalized amyotrophy, Scoliosis, Myoclonus, Action myoclonus, Frequen...	OMIM:616540
Hemimegalencephaly	Optic atrophy, Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot...	OMIM:615159
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Opt...	OMIM:617481
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Facial dipl...	OMIM:617302
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski...	OMIM:610246
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype...	OMIM:620285
Mulibrey Nanism	Cachexia	ORPHA:2576
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Arthrogrypo...	OMIM:615095
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Fl...	ORPHA:171436
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ...	OMIM:270550
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain...	OMIM:618228
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Facial palsy, Spinal rigidity, Diaphragmatic paralysis, Kne...	OMIM:612954
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti...	OMIM:164400
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Waddling gait, Ataxia, Lower limb muscle weakness, Split hand, Babinski sign, Distal sensory impa...	OMIM:617882
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Gait disturbance, Scoliosis, Dys...	OMIM:618239
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ...	OMIM:618237
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp...	OMIM:215470
Fried Syndrome	Skeletal muscle atrophy, Gait disturbance, Spastic diplegia, Scoliosis	ORPHA:85335
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pontocerebellar Hypoplasia, Type 2A	Chorea, Optic atrophy, Opisthotonus, Congenital contracture, Gliosis, Extrapyramidal dyskinesia, ...	OMIM:277470
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Splenomegaly, Vacuolated...	OMIM:248500
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve ...	ORPHA:320406
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal pyramidal sign, Limb muscle weakness, Gait imbalance, Scoliosis...	ORPHA:329336
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal...	OMIM:617672
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased sensory ne...	OMIM:609033
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory...	ORPHA:99944
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ...	ORPHA:59
Spastic Paraplegia 26, Autosomal Recessive	Distal lower limb amyotrophy, Impaired vibratory sensation, Lower limb spasticity, Dystonia, Atax...	OMIM:609195
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb...	ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ...	ORPHA:464282
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 Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Ataxia, Impaired pain sensation, Kyphosis, Split hand, Unsteady gai...	OMIM:618124
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Ba...	OMIM:210000
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra...	OMIM:300423
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment	OMIM:605589
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramidal sign, Progr...	ORPHA:1177
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi...	ORPHA:598
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Optic atrophy, Gliosis, Gait disturbance, Lethargy, Spasticity	OMIM:603896
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Short ne...	OMIM:619026
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:612319
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Babinski sig...	ORPHA:513436
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Tap...	OMIM:301072
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Unsteady gait, A...	ORPHA:98
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas...	OMIM:601455
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe...	OMIM:605253
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ...	OMIM:617070
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper...	OMIM:300695
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat...	ORPHA:329478
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares...	ORPHA:480
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Le...	OMIM:252011
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ...	ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Scoliosis, Dystonia	OMIM:618244
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Spastic Paraplegia 20, Autosomal Recessive	Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic...	OMIM:275900
Triose Phosphate-Isomerase Deficiency	Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity...	ORPHA:868
Myopathy, Distal, 3	Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abno...	OMIM:610099
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Spasticity	OMIM:618242
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,...	OMIM:218000
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Clumsiness, Generalized amyotrop...	OMIM:614707
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria	OMIM:618251
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Muscular Dystrophy, Congenital, 1B	Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto...	OMIM:604801
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy	OMIM:615911
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Short palm, Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Small hand,...	OMIM:610185
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner...	ORPHA:101082
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Gliosis, Dystonia, Spasticity, Failure to thrive	OMIM:256000
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Action tremor, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coor...	ORPHA:309854
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171612
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Optic atrophy, Defective DNA repair after ultraviolet radiation dama...	OMIM:278800
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere...	ORPHA:306692
Harel-Yoon Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Dista...	OMIM:617183
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism	OMIM:600274
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti...	ORPHA:972
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scoliosis, Dystonia, Weakness ...	OMIM:618416
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro...	OMIM:617710
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Calcaneov...	ORPHA:93952
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,...	ORPHA:100996
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive	OMIM:620007
Distal Myotilinopathy	Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul...	ORPHA:98911
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia...	ORPHA:502423
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98855
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait a...	OMIM:618321
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Thoracic scolios...	ORPHA:254930
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Flexion contracture, Acute infantile s...	OMIM:271225
Moynahan Syndrome	Cachexia	ORPHA:2574
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene...	OMIM:615957
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakness, Atrophy of the s...	ORPHA:100986
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Dystonia	OMIM:614932
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus art...	OMIM:616867
Adducted Thumbs Syndrome	Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita	OMIM:201550
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro...	ORPHA:98771
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyrami...	OMIM:617435
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Onion bulb formation, Dystonia, Ataxia, Dysmetria, Distal amy...	OMIM:614487
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Arthr...	ORPHA:85278
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Spinocerebellar Ataxia 2	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity...	OMIM:183090
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Dysdiadochokinesis, Progressive cerebell...	ORPHA:254881
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Abnormal posturing	ORPHA:216866
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
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
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Splenomegaly,...	ORPHA:90324
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio...	OMIM:162400
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:320355
Allan-Herndon-Dudley Syndrome	Hallux valgus, Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tet...	OMIM:300523
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Cachexia	ORPHA:1933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo...	OMIM:617675
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Neutropen...	ORPHA:506
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ...	ORPHA:352641
Ataxia-Telangiectasia	Skeletal muscle atrophy, Abnormality of chromosome stability, Failure to thrive, Ataxia, Tremor, ...	ORPHA:100
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab...	OMIM:612674
Diaminopentanuria	Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Gliosi...	OMIM:604218
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia	OMIM:203740
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Ataxia, Cerebral atrophy	OMIM:618637
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula...	OMIM:612016
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Ba...	OMIM:616586
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:100993
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Lower limb muscle weakness, D...	ORPHA:313772
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ...	OMIM:169500
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral...	ORPHA:2047
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem...	OMIM:300957
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607831
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, W...	ORPHA:3208
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,...	OMIM:128100
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti...	ORPHA:496756
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C...	OMIM:256840
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Huntington Disease	Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ba...	ORPHA:399
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao...	ORPHA:298
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a...	ORPHA:500180
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Loss of ability to walk in early childhood, Small for gestational age, M...	OMIM:612073
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture	OMIM:619470
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment	ORPHA:639
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Kyphosis, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ...	OMIM:618453
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Splenomegaly, Flexion...	OMIM:613327
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Combined Oxidative Phosphorylation Deficiency 31	Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ...	OMIM:617228
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,...	OMIM:253600
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy, Steppage gait, Periphera...	OMIM:607736
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C...	ORPHA:216873
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Onion bulb formation, Lower limb muscle weakness, Trun...	OMIM:610532
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc...	OMIM:617013
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
Pulmonary Blastoma	Weight loss	ORPHA:64741
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil...	ORPHA:254361
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal...	ORPHA:363710
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Axonal loss, Gliosis, Athetosis, Myoclonus, Scoliosis, Acromesomelia, Oculomotor apraxia,...	ORPHA:404454
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:559
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we...	OMIM:607791
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Corpus ...	ORPHA:98673
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia...	ORPHA:101076
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal sens...	OMIM:608895
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contracture	ORPHA:87876
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragg...	OMIM:615084
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Splenomegaly, Tre...	ORPHA:812
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi...	ORPHA:477774
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Periphe...	OMIM:606002
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park...	OMIM:300055
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax...	ORPHA:70595
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Gliosis, Falls, Dystonia, Neuronal ...	ORPHA:683
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ata...	OMIM:617695
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnorma...	ORPHA:459033
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, Sco...	OMIM:312750
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Hypophosphatasia	Hypercalcemia	ORPHA:436
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor...	OMIM:601152
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ...	OMIM:615889
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ...	OMIM:608931
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Dysmetria...	OMIM:610743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Abnormal pyramidal sign, Vocal cord paralysis, Clumsiness, Progressive c...	ORPHA:98757
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Myopathy, Cachexia	ORPHA:42
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Gait disturbance	ORPHA:1875
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti...	ORPHA:33445
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,...	ORPHA:36386
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Ataxia, Hyperlordosis, Paten...	ORPHA:354
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:3242
Neuropathy, Congenital, With Arthrogryposis Multiplex	Broad-based gait, Hyperlordosis, Calcaneovalgus deformity, Babinski sign, Distal amyotrophy, Arth...	OMIM:162370
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Ankle flexion contracture, Tremor, Splenomegaly, Patent ductus arteriosus, Op...	OMIM:608799
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Scoliosi...	OMIM:616516
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem...	ORPHA:276198
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ...	ORPHA:99949
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Hemiatrophy, Scoliosis, Cerebral corti...	ORPHA:306669
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Split hand, Gliosis, Spasticity	ORPHA:168486
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Small hand, Gait ataxia, Short foot, ...	OMIM:300354
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Spinal cord les...	ORPHA:401866
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign,...	ORPHA:447760
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ...	ORPHA:401815
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Bra...	OMIM:278760
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Optic atrophy, Decreased b...	ORPHA:477814
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Inability to walk, Rhabdomyolysis, Glio...	ORPHA:26791
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance	ORPHA:457240
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi...	OMIM:211530
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia	OMIM:616801
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Short neck, Tremor, Splenomegaly, Chorea, Leukocyto...	OMIM:615673
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ...	ORPHA:209335
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Vocal cord par...	ORPHA:397744
Tuberculosis	Weight loss	ORPHA:3389
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy	OMIM:300983
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,...	OMIM:164310
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ...	OMIM:614153
Myasthenic Syndrome, Congenital, 10	Waddling gait, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy	OMIM:254300
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ...	OMIM:613205
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis ...	OMIM:618393
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy, Gliosis	OMIM:613002
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Tre...	OMIM:312080
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa...	OMIM:615924
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotroph...	OMIM:615156
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere...	OMIM:617916
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor ...	OMIM:619527
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Arachnodactyly, Postural tremor, Corpu...	ORPHA:412057
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Gliosis, Shuffl...	OMIM:168601
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Sm...	ORPHA:3095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa...	OMIM:601287
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios...	ORPHA:254875
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem...	OMIM:226670
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ...	OMIM:618186
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski...	OMIM:617339
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Truncal atax...	OMIM:615768
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoa...	OMIM:617664
Spastic Paraplegia 16, X-Linked	Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap...	OMIM:300266
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins...	ORPHA:139480
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ata...	ORPHA:496790
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H...	OMIM:620089
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d...	ORPHA:391417
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Cerebra...	OMIM:314580
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia...	OMIM:619422
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Spastic tetraparesis, Cerebel...	ORPHA:35069
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss...	OMIM:607155
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Small hand, Intrinsic hand m...	OMIM:615273
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment	OMIM:300614
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni...	OMIM:253310
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy ...	ORPHA:2822
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Gait disturbance, Scoliosis	OMIM:618578
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha...	ORPHA:99965
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ...	OMIM:234200
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia	OMIM:618247
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Multiple joint contractures, Short neck, Flexion contracture, Cerebral atroph...	OMIM:618065
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ...	ORPHA:99956
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait, T...	OMIM:303350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the...	OMIM:300232
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Arachnodactyly, Inability to walk, Babinski sign, Cerebral atrophy, Hype...	OMIM:616420
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Cerebral a...	OMIM:619847
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Kyphoscoliosis, Corpus callosum atrophy, Abnormal pyramidal sign, Spasti...	OMIM:260600
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Distal sensory impairment, Fac...	OMIM:613559
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f...	OMIM:618392
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda...	ORPHA:178148
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Chronic axonal neuropathy, Ataxia, Myoclonus, Atroph...	ORPHA:95428
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia	ORPHA:2598
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Sideroblastic anemia, Rhabdomyolysis, Myopathy, Leukopenia, Increased in...	OMIM:255125
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic atrophy, Abnormal pyram...	OMIM:615419
Choreoacanthocytosis	Skeletal muscle atrophy, Caudate atrophy, Self-mutilation of tongue and lips due to involuntary m...	OMIM:200150
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Duchenne Muscular Dystrophy	Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Scoliosis	ORPHA:98896
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n...	ORPHA:478029
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Arthrogryposis Multiplex Congenita 6	Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multipl...	OMIM:619334
Baralle-Macken Syndrome	Tapered finger, Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity, Global brain atrophy	OMIM:619255
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Thoracic scoli...	OMIM:616716
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl...	OMIM:616503
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Gliosis, Hypertonia, In...	ORPHA:191
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbanc...	ORPHA:778
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inabi...	OMIM:257200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Optic atrophy, Poor coordination, Cerebral ...	OMIM:616878
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype...	OMIM:619737
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damag...	OMIM:278780
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho...	OMIM:607855
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ...	OMIM:117360
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Optic disc pallor, Hemolytic anemia, Macrocytic anemi...	OMIM:615512
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Gait dist...	ORPHA:505652
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Short neck, Kyph...	OMIM:301041
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ...	OMIM:619092
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality, Gait disturb...	ORPHA:2840
Central Core Disease	Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p...	ORPHA:597
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia	OMIM:274240
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hyperlordosis, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystroph...	ORPHA:369840
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Clonus, Flexion contracture, Brain atrophy, Muscle fiber atrophy, Failure to thrive, Cerebral cor...	OMIM:620240
Autosomal Recessive Spastic Paraplegia Type 35	Dysmetria, Foot dorsiflexor weakness, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesi...	ORPHA:171629
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D...	OMIM:615217
Superficial Siderosis	Back pain, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait a...	ORPHA:247245
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Sp...	OMIM:617810
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Sensory ataxia, G...	OMIM:609286
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Dpm3-Cdg	Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed...	ORPHA:263494
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb...	ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nu...	OMIM:615578
Episodic Ataxia Type 1	Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle h...	ORPHA:37612
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy...	ORPHA:2388
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Somatic sensory...	ORPHA:79093
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Ragged-red muscle fibers, Generalized amyotrophy, Lethargy, Failure to thrive	OMIM:613561
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Quadricep...	OMIM:255800
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Peripheral axonal neuropathy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contract...	OMIM:616866
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Decreased nerve condu...	OMIM:214500
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Flexion contracture, Kyph...	OMIM:618658
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Oculomotor apraxia, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinoda...	ORPHA:3454
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Decreased body weight, Ataxia, Flexion contracture, ...	OMIM:300243
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle ...	ORPHA:352447
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Talipes equin...	OMIM:616827
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di...	ORPHA:702
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Kyphoscoliosis	ORPHA:300179
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dy...	OMIM:617988
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi...	ORPHA:391428
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Ataxia, Arachnodactyly, Broad hallux, Inability...	ORPHA:481152
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab...	ORPHA:139396
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic...	OMIM:614678
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia	ORPHA:2774
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo...	OMIM:615919
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal mu...	OMIM:300280
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Cerebra...	OMIM:615471
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap...	OMIM:270700
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Onion bulb formation, Lower limb spasticity, Optic neuropathy, Tibialis ...	ORPHA:320375
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonu...	OMIM:614969
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Overlapping fingers, Femur f...	OMIM:618291
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Adenylosuccinase Deficiency	Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, Op...	OMIM:103050
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Dystonia, Patent ductus arteriosus, Ragged-r...	ORPHA:17
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab...	ORPHA:2926
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Idiopathic Achalasia	Weight loss	ORPHA:930
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac...	ORPHA:521411
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Talipes equ...	OMIM:605013
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Ragged-red muscle fib...	OMIM:607426
L1 Syndrome	Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spastic...	ORPHA:275543
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age, Talipes equinovarus	ORPHA:85288
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Paresthesia, Generalized amyotrop...	ORPHA:79279
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic...	OMIM:245200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt...	ORPHA:240103
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Weight loss	ORPHA:141152
Polyglucosan Body Neuropathy, Adult Form	Orthostatic hypotension, Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairm...	OMIM:263570
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Anisospondyly, Caudal a...	OMIM:156530
Primary Non-Essential Cutis Verticis Gyrata	Gliosis, Scoliosis	ORPHA:357225
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
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers, Ataxia, Slurred speech, Gait disturbance	ORPHA:1349
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid...	ORPHA:324604
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Lissencephaly 8	Appendicular spasticity, Skeletal muscle atrophy, Optic atrophy, Talipes equinovarus	OMIM:617255
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased muscle mass, Decreased nerve conduction velocity, Corpus callosum a...	OMIM:261515
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue	OMIM:602541
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho...	ORPHA:466722
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation	OMIM:614018
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Pure Mitochondrial Myopathy	Waddling gait, Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis...	ORPHA:254854
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Weight loss	ORPHA:77297
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa...	ORPHA:79139
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
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Small for gestational age, Kyphosis, Congenital contracture, Hypertonia, Joint co...	ORPHA:352490
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Metaphyseal widening, Optic atrophy, Diaphy...	OMIM:618476
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
Camurati-Engelmann Disease, Type 2	Waddling gait, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion co...	OMIM:606631
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa...	OMIM:607483
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Neuraminidase Deficiency	Skeletal muscle atrophy, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurred sp...	OMIM:256550
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Abnormal c...	ORPHA:168572
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atrophy, Gliosis, ...	OMIM:124000
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa...	ORPHA:70
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin...	ORPHA:1328
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Lethargy, ...	ORPHA:254892
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,...	OMIM:617145
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fibe...	OMIM:612949
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Somatic sensory dysfunction, Parap...	ORPHA:99857
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a...	OMIM:614831
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp...	ORPHA:70594
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi...	OMIM:615356
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia	OMIM:233910
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Dec...	ORPHA:98915
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrop...	ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Cerebral atrophy, Gliosis, Myoclo...	OMIM:614946
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired ...	OMIM:268800
Schindler Disease, Type I	Spasticity, Optic atrophy, Generalized amyotrophy, Myoclonus	OMIM:609241
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Abnormal posturing, Failure to thrive	OMIM:614857
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized amyotrophy, Dystonia	OMIM:618910
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta...	ORPHA:93314
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Failure to thrive, Kyphosis, Scoliosis	OMIM:618234
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Inability to walk, Fl...	OMIM:615547
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Tonne-Kalscheuer Syndrome	Broad-based gait, Congenital diaphragmatic hernia, Tremor, Spasticity, Broad thumb, Brachydactyly	OMIM:300978
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae, Scoliosis, Failure to thr...	ORPHA:370079
Kennedy Disease	Skeletal muscle atrophy, Gait disturbance	ORPHA:481
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:590
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Dystonia, Ataxia, Optic atrophy, Hypochromic microcytic anemia, Normochrom...	ORPHA:66634
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Clinodactyly of the 5...	OMIM:615834
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Short distal phalanx of finger, Ulnar deviation of finger	ORPHA:2013
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthoto...	OMIM:619272
Tetrasomy 12P	Cachexia	ORPHA:884
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity	ORPHA:2429
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Abnormal posturing, Gait disturbance, Titubation	ORPHA:225147
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ...	ORPHA:36387
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Obesity, ...	OMIM:301900
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina...	ORPHA:52368
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,...	ORPHA:2912
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Trem...	ORPHA:447753
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi...	OMIM:610217
Wilson Disease	Back pain, Splenomegaly, Increased body weight, Weight loss, Anemia, Proximal muscle weakness in ...	ORPHA:905
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity	ORPHA:88619
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Splenomegaly	ORPHA:2348
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia	OMIM:617162
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Sandal gap, Failure to ...	ORPHA:477817
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi...	OMIM:612126
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity	OMIM:616720
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babin...	OMIM:616795
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic parap...	ORPHA:83629
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact...	ORPHA:3068
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp...	ORPHA:240071
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap...	ORPHA:192
Madras Motor Neuron Disease	Facial palsy, Babinski sign, Optic atrophy, Limb fasciculations, Distal amyotrophy	ORPHA:137867
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia	ORPHA:31
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber size, Skeletal ...	ORPHA:79083
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ...	ORPHA:206436
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerv...	ORPHA:168563
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n...	OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Richards-Rundle Syndrome	Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance	ORPHA:1399
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Kyphosis, Absent phalangeal crease, Distal arthrogryposis,...	OMIM:108145
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal form of the verte...	ORPHA:83468
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, L...	OMIM:615980
15Q24 Microdeletion Syndrome	Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal...	ORPHA:94065
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Abnormal thumb morphology,...	ORPHA:101000
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Paresthesia, Muscular edema	ORPHA:3165
Becker Muscular Dystrophy	Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking	ORPHA:98895
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis, Upp...	OMIM:612079
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Sacral dimple, Ataxia, Broad hallux, Proximal placement of thumb, Tapere...	ORPHA:435638
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Split hand, Hepatosplenomeg...	OMIM:309900
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Hyperlordosis, Foot acroosteolysis, Tapered finger	ORPHA:970
Tick-Borne Encephalitis	Back pain, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Speech apraxia, ...	ORPHA:297
Hypokalemic Periodic Paralysis	Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures	ORPHA:2028
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor...	ORPHA:529665
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Diaphyseal sclerosis, Genu val...	OMIM:131300
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Hep...	OMIM:619487
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Wolman Disease	Cachexia	ORPHA:75233
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Hallux valgus, Waddling gait, Facial hypotonia, Sandal gap, Small f...	ORPHA:506358
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Lissencephaly, X-Linked, 2	Spasticity, Gliosis	OMIM:300215
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy, Rocker bottom foot	ORPHA:85283
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cerebral atrophy, Athetosis, ...	ORPHA:572798
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ...	OMIM:168600
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ulnar dev...	ORPHA:456312
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Hyperlordosis, Microcytic anemia, Ra...	OMIM:600462
Polymyositis	Weight loss, Gait disturbance, Abnormal muscle fiber morphology	ORPHA:732
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture, Scoliosis	OMIM:615704
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr...	OMIM:232800
Tangier Disease	Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Splenomega...	OMIM:205400
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, ...	ORPHA:255210
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Failure to thrive	OMIM:618603
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr...	OMIM:618733
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Lower limb spasticity, Short neck, Large for gestational age, Patent ductus arte...	OMIM:300868
Aredyld Syndrome	Cachexia	ORPHA:1133
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Syringomyelia, Scoliosis, Clinodactyl...	ORPHA:94063
Pheochromocytoma	Hypercalcemia	OMIM:171300
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion con...	OMIM:619708
Lethal Congenital Contracture Syndrome 10	Torticollis, Overlapping fingers, Thoracic scoliosis, Short neck, Femoral bowing, Macroglossia, H...	OMIM:617022
Sneddon Syndrome	Facial palsy, Tremor, Impaired distal tactile sensation, Hemiplegia, Lymphopenia	OMIM:182410
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Metatarsus adductus, H...	OMIM:253220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Thoracolumbar kyphosis, Opisthotonus, T lymphocytopenia, Hyperton...	ORPHA:508533
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Ataxia, Rhizomelia, Tremor, Flexion contracture, Cerebral atrophy, ...	OMIM:616271
Emanuel Syndrome	Torticollis, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Patent ductus arteriosus, ...	OMIM:609029
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Spasticity, Temporal cortical atrophy	OMIM:618862
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol...	ORPHA:713
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Weight loss	OMIM:188580
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Gait disturbance, Myopathy	ORPHA:85329
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy	OMIM:245400
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Spinal c...	ORPHA:370348
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis, Brain atrop...	OMIM:617186
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:614381
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, ...	ORPHA:364028
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertonia, Opisthotonus	OMIM:616896
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Trem...	ORPHA:85293
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Pseudoachondroplasia	Metaphyseal widening, Cervical cord compression, Short phalanx of finger, Genu varum, Waddling ga...	OMIM:177170
Alexander Disease	Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram...	ORPHA:58
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Rigidity, Long fingers, ...	OMIM:617527
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang...	OMIM:256700
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper...	OMIM:252160
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thr...	ORPHA:268261
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal...	ORPHA:773
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta, Shoulder girdle...	ORPHA:64755
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Patent duct...	ORPHA:1842
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Splenom...	OMIM:252010
Melorheostosis	Skeletal muscle atrophy, Failure to thrive	ORPHA:2485
Whipple Disease	Myositis, Cachexia	ORPHA:3452
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Oculomotor apraxia, Skeletal muscle atrophy	OMIM:619759
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati...	ORPHA:79244
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Hyperextensibility of the finger joints, Kyphosis, Patent ductus arteriosus, ...	OMIM:619797
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Failure to thrive, Gliosis, Tapered finger	ORPHA:261652
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia, Dystonia	OMIM:105300
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Neuronal loss in ce...	OMIM:600072
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations	OMIM:313200
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis,...	ORPHA:1900
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Scoliosis, ...	OMIM:300337
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G...	OMIM:618877
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Rigidi...	ORPHA:521426
Ck Syndrome	Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Slender build	OMIM:300831
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Anemia	ORPHA:371
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Congenital Disorder Of Glycosylation, Type Iio	Splenomegaly, Skeletal muscle atrophy, Hepatosplenomegaly	OMIM:616828
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Gliosis, ...	OMIM:252150
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic...	ORPHA:90322
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho...	ORPHA:97349
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Primary Myelofibrosis	Cachexia	ORPHA:824
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Lynch Syndrome	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:144
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d...	ORPHA:2311
Alpha-Mannosidosis	Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Macroglossia, Scoliosis	ORPHA:61
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Alveolar Echinococcosis	Low back pain, Liver abscess, Ataxia, Eosinophilia, Abnormal skeletal muscle morphology, Weight l...	ORPHA:284
Melas	Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Ragged-red muscle fibers, ...	ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia	OMIM:618222
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Optic atrophy, Elbow flexion contrac...	OMIM:618493
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight...	ORPHA:79102
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Tapered finge...	ORPHA:251071
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration,...	ORPHA:183
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Gait disturbance, Scoliosis, Hemiplegia, Adducted thumb	ORPHA:2181
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, We...	ORPHA:440437
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short neck, Babinski sign, Cerebral atrophy, Hypertonia, Spasticity, Fai...	OMIM:615802
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Hepatosplenomegal...	ORPHA:367
Trisomy 18	Cachexia, Spina bifida, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:3380
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle...	ORPHA:800
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Broad hallux, Facial palsy, Tapered finger, Hyperlordosis, Small hand, Obesity, Genu ...	OMIM:615873
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Sézary Syndrome	Splenomegaly, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Tremor	ORPHA:3162
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Scapular winging, Sandal gap, Tapered finger, Tremor, Kyphosis, Patent ductus...	OMIM:617061
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap...	OMIM:607014
Arthrogryposis, Distal, Type 4	Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal ...	OMIM:609128
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m...	OMIM:614856
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Kypho...	ORPHA:628
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contracture	ORPHA:75496
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu...	ORPHA:206572
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology	ORPHA:142
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp...	ORPHA:2020
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Limited mobility of pr...	OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst...	OMIM:613150
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Spina bifida occulta	ORPHA:230839
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly	ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Small for gestational age, Tremor, Dysmetria, Gliosis, Truncal ataxia, Left ven...	OMIM:220111
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Viral infection-induced...	ORPHA:57
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure...	OMIM:234250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Sco...	OMIM:130060
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H...	OMIM:105210
Erythrokeratodermia Variabilis	Brachydactyly, Weight loss, Tapered finger	ORPHA:317
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis	ORPHA:1545
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Coxa valga, Short neck, Hyperlordosis, Metaphyseal widenin...	OMIM:253000
Trisomy 20P	Finger syndactyly, Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Preaxial ha...	ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent du...	OMIM:614080
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Short...	ORPHA:94068
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration	OMIM:620210
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Glycogen Storage Disease Xii	Normocytic anemia, Short neck, Splenomegaly, Myopathy, Normochromic anemia, Nonspherocytic hemoly...	OMIM:611881
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Clubbing of toes, Weight loss	ORPHA:2198
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Foot joint contracture, Ataxia, Tremo...	ORPHA:90321
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Scoliosis, Shor...	ORPHA:238750
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Spastic te...	OMIM:615574
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Arachnodactyly, Short hallux, Congenital diaphragmatic hern...	ORPHA:280
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Lethargy, Hemiplegia/hemiparesis	ORPHA:156
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
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Trisomy 17P	Skeletal muscle atrophy, Tapered finger, Short neck, Patent ductus arteriosus, Flexion contractur...	ORPHA:261290
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Femoral retroversion, Micromelia, Kyphosis, Macroglossia, Scoliosis	ORPHA:79107
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho...	OMIM:223800
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Aceruloplasminemia	Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri...	ORPHA:48818
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy	OMIM:614300
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus a...	OMIM:620327
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Sandal gap, Optic nerve hypoplasia, Camptodactyly of finger, Facial palsy,...	ORPHA:261349
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra...	OMIM:603387
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Failure to thrive, Camptodactyly of finger, Aplasia/H...	ORPHA:2990
Kearns-Sayre Syndrome	Sideroblastic anemia, Ragged-red muscle fibers, Ataxia	OMIM:530000
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Progressive sp...	ORPHA:85323
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Short foot, Abnormal diap...	ORPHA:3409
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Thrombocytosis, Fai...	OMIM:212065
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thro...	OMIM:209950
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Coxa valga, Hyperlordosis, Hypoplasia of the odontoid process, Me...	OMIM:253010
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Hepatosplenomegaly	OMIM:232500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi...	OMIM:256810
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Rhabdomyolysis, Ataxia	ORPHA:79095
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Spinal rigi...	OMIM:254940
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner...	ORPHA:447788
Diets-Jongmans Syndrome	Gliosis, Congenital diaphragmatic hernia	OMIM:618846
Farber Disease	Skeletal muscle atrophy, Thrombocytopenia, Short toe, Flexion contracture, Paraparesis, Hepatospl...	ORPHA:333
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax...	OMIM:619475
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Failure to thrive in infancy, Cachexia	ORPHA:37042
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Knee flexion contracture, Increased density of long bone diaphyses, Wris...	OMIM:305620
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Elbow flexion contracture, Decreased body weigh...	OMIM:616200
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Talipes cavus equinovaru...	OMIM:300966
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy...	ORPHA:646
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Tethered cord, Short neck, Kyphosis, Patent ductus arter...	OMIM:130720
Xfe Progeroid Syndrome	Failure to thrive, Cachexia	OMIM:610965
Papillorenal Syndrome	Optic disc coloboma, Gliosis, Scoliosis	OMIM:120330
Joubert Syndrome	Aganglionic megacolon, Ataxia, Tremor, Abnormal form of the vertebral bodies, Hand polydactyly, G...	ORPHA:475
Timothy Syndrome	Hypocalcemia	OMIM:601005
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Broad toe, Diastasis recti, Short neck, Inability to walk, 2-3 toe synda...	ORPHA:488632
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Coxa vara, Knee ...	OMIM:259450
Frank-Ter Haar Syndrome	Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the...	ORPHA:137834
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,...	ORPHA:958
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis, Patent ductus arteriosus after birth at ter...	ORPHA:251061
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Ragged-red muscle fibers, Babinski sign, Bradykinesia, Dystonia, Failure to...	OMIM:614924
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Abnormal metatarsal morphology, Kyphoscoliosis, Flat capital femoral e...	ORPHA:93360
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Tapered finger, Short toe, Truncal obesity, Camptodactyly of toe	ORPHA:127
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Gliosis, Talipes equinovarus, Camptodactyly, Joint contracture, Failure to thrive	OMIM:617403
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia	ORPHA:33355
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hirschsprung Disease	Weight loss, Aganglionic megacolon, Failure to thrive in infancy, Adducted thumb	ORPHA:388
Smith-Mccort Dysplasia 1	Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia o...	OMIM:607326
Classic Hodgkin Lymphoma	Splenomegaly, Ataxia, Weight loss	ORPHA:391
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma	ORPHA:647
Fucosidosis	Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o...	ORPHA:349
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis	OMIM:612300
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Prominent fingertip pads, Patent d...	OMIM:277590
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,...	ORPHA:1344
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia	ORPHA:2821
Alternating Hemiplegia Of Childhood	Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp...	ORPHA:2215
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g...	ORPHA:221098
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Arachnodactyly, Scoliosis	ORPHA:1548
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis, Patent ductus arteriosus, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Dpagt1-Cdg	Ataxia, Arachnodactyly, Akinesia, Tremor, Inability to walk, Flexion contracture, Optic atrophy, ...	ORPHA:86309
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Scol...	ORPHA:220493
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Patent ductus arteriosus, Rhabdomyolysis, Optic atrophy, Dystonia	OMIM:610505
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Cerebral palsy, Opisthotonus, Lethargy, Failure to thrive	OMIM:210210
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes...	ORPHA:98908
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par...	ORPHA:167
Cystic Echinococcosis	Abscess, Eosinophilia, Weight loss, Abnormality of the vertebral column, Splenic cyst, Abnormalit...	ORPHA:400
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Sm...	ORPHA:464306
Marfan Syndrome	Skeletal muscle atrophy, Slender build, Cachexia, Dural ectasia	ORPHA:558
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Congenital contracture, Radioulnar s...	OMIM:248700
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, ...	OMIM:617602
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Splenomegaly, Weight loss, ...	ORPHA:465508
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial in...	OMIM:614557
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Leprosy	Skeletal muscle atrophy, Autoamputation of digits, Impaired temperature sensation, Dysesthesia, D...	ORPHA:548
Ppoma	Hypercalcemia	ORPHA:97278
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Taper...	ORPHA:464311
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Gliosis	OMIM:231680
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Gait disturbance, Scoliosis, F...	ORPHA:500055
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Genu valgum, Macroglossia, Abnormal m...	ORPHA:583
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Finger syndactyly, Short neck, Postaxial hand polydactyly, Obesity	ORPHA:110
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly	ORPHA:2075
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Tremor, Optic atrophy,...	OMIM:612199
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss	ORPHA:1164
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Kyphosis, Inability to walk, Deviation of the 2nd finger, 2-3...	ORPHA:464738
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Kyphosis, Truncal obesity	OMIM:219080
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Reduced alpha/beta synthesis ratio, Hemiver...	OMIM:301040
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivert...	ORPHA:2916
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of...	ORPHA:251014
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Skeletal muscle atrophy, Short neck, Splenomegaly, Cerebral atrophy, Overlapp...	OMIM:608779
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t...	OMIM:607876
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Scoliosis, Shor...	OMIM:180870
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive, Global brain atr...	OMIM:608776
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Abnormal spinal cord morphology	ORPHA:494
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr...	ORPHA:90045
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Failure to thrive, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Somatostatinoma	Hypercalcemia	ORPHA:97283
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Serotonin Syndrome	Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner...	ORPHA:43116
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory e...	OMIM:216400
Walker-Warburg Syndrome	Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasia...	ORPHA:899
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb...	OMIM:219090
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondy...	ORPHA:2655
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Follicular Lymphoma	Weight loss	ORPHA:545
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Short neck, Kyphosis, Obesity, Scoliosis, Toe clinodac...	ORPHA:254346
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp...	ORPHA:3098
Grfoma	Hypercalcemia	ORPHA:97261
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi...	ORPHA:3219
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger	ORPHA:1858
Poems Syndrome	Papilledema, Metaphyseal sclerosis, Weight loss, Clubbing of fingers, Paresthesia, Hyperesthesia,...	ORPHA:2905
Al Amyloidosis	Howell-Jolly bodies, Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Pos...	ORPHA:85443
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
Clark-Baraitser syndrome	Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm	OMIM:300602
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal irregularity, Platysp...	OMIM:113500
Distal Triplication 15Q	Arachnodactyly, Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contractur...	ORPHA:314588
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Prader-Willi Syndrome	Syndactyly, Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosi...	OMIM:176270
Bruck Syndrome	Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis...	ORPHA:2771
Pleural Mesothelioma	Weight loss	ORPHA:50251
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Neu-Laxova Syndrome	Skeletal muscle atrophy, Spina bifida, Micromelia, Flexion contracture, Opisthotonus, Large hands...	ORPHA:2671
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Glucagonoma	Hypercalcemia	ORPHA:97280
Trisomy 13	Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Optic atrophy, Ectrodactyly, Scol...	ORPHA:3378
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochrom...	OMIM:162300
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloi...	ORPHA:51
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o...	OMIM:607015
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Microsporidiosis	Myositis, Cachexia, Weight loss	ORPHA:2552
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Kyphosis, Splenomegaly, Inability to walk, Knee flexion contrac...	ORPHA:576
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia...	ORPHA:570
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,...	ORPHA:582
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Small hand, Obes...	OMIM:614947
Donohue Syndrome	Severe failure to thrive, Skeletal muscle atrophy, Large hands	OMIM:246200
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Rocker bottom foot, Micromelia, Short neck, Hyperlordos...	ORPHA:2616
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/C3 vertebral fusion,...	OMIM:617190
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Thrombocytopenia, Type 2 muscle fiber predominance, Myopathy, Talipes eq...	OMIM:619743
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Seckel Syndrome	Cachexia	ORPHA:808
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Arthrog...	ORPHA:99885
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Granulom...	ORPHA:68
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	ORPHA:79327
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro...	ORPHA:507
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Mucolipidosis Iii Gamma	Hyperlordosis, Flat capital femoral epiphysis, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:252605
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Large for gestational age...	ORPHA:457359
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Short neck, Hyperlordosis, Kyphosis, Macroglossia, Scoliosi...	ORPHA:1798
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Kyphosis,...	ORPHA:15
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Patent ductus arteriosus, Platyspondyly, Abnormal metaphysis morphology, Br...	ORPHA:93274
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae, Abnormal ...	ORPHA:2522
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, L...	ORPHA:99867
Pfapa Syndrome	Weight loss	ORPHA:42642
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, ...	OMIM:615846
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Fibular bowing, Horizontal sacrum, Scol...	OMIM:112350
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, Spasticity	OMIM:613454
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Overlapping toe, Small for gestational age, Tapered finger, Flexion cont...	OMIM:309590
Spinal Arteriovenous Metameric Syndrome	Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Abnormality of the vertebral column...	ORPHA:53721
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture, Hepatosplenomegaly, Hemophagocytosis, F...	ORPHA:39812
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal metaphysis morphology, Abn...	ORPHA:324964
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Giant Cell Arteritis	Optic atrophy, Ataxia, Paresthesia, Weight loss	ORPHA:397
Vici Syndrome	Failure to thrive, Abnormal posturing, Penile hypospadias	OMIM:242840
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han...	ORPHA:233
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal spinal cord morphology, Diap...	ORPHA:83597
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Involuntary movements, Kyphoscoliosis, Kyphosis,...	ORPHA:3063
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Scoliosis, Failure to thrive, Anemia	OMIM:615895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P...	ORPHA:3082
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Leukocytosis, Weight loss, Leukopenia, Lethargy, Myoclonus, Thromboc...	ORPHA:20
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Stickler Syndrome	Macroglossia, Skeletal muscle atrophy, Slender build, Cachexia	ORPHA:828
Recon Progeroid Syndrome	Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Long thum...	OMIM:620370
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h...	OMIM:614162
Listeriosis	Back pain, Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Rh...	ORPHA:533
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy	OMIM:613154
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Patent ductus arteriosus, H...	OMIM:610443
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Aganglionic megacolon, Obesity	ORPHA:261222
Marshall-Smith Syndrome	Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Hypertonia, Thoracic kyphosis, Cer...	OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent ductus arteriosus...	OMIM:300967
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Incoor...	OMIM:601992
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Scoliosis	OMIM:615381
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
3C Syndrome	Finger syndactyly, Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Hand polydactyly, Scoliosi...	ORPHA:7
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture	OMIM:619183
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressiv...	OMIM:208900
Megalocornea-Intellectual Disability Syndrome	Ataxia, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum	ORPHA:2479
Cockayne Syndrome B	Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal peripheral myeli...	OMIM:133540
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sandal gap, Glioma, Rhabdomyosarcoma, 2-3 toe syndactyly, T lymphocy...	OMIM:251260
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones	ORPHA:3191
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, S...	ORPHA:3121
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Splenomegaly, Rhabdomyolysis, Increased bod...	ORPHA:79240
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Kyph...	ORPHA:193
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Short lower limbs, Scoliosis	OMIM:259440
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Beta-Ketothiolase Deficiency	Ataxia, Leukocytosis, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity	ORPHA:134
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss, Anemia, Hepatosplenomegaly	ORPHA:85450
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scolios...	ORPHA:568
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor...	ORPHA:666
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Flexion contracture, Small hand, Increased body weight,...	ORPHA:398069
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta...	OMIM:619951
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple...	ORPHA:264580
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol...	OMIM:618050
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Gait atax...	OMIM:617011
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Harrod Syndrome	Arachnodactyly, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:2115
1P36 Deletion Syndrome	Camptodactyly of finger, Kyphosis, Patent ductus arteriosus, Abnormality of the spleen, Optic atr...	ORPHA:1606
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Short phalanx of f...	OMIM:143095
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge...	ORPHA:84
Holt-Oram Syndrome	Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Patent ductus arteriosus, ...	ORPHA:392
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Patent d...	ORPHA:1860
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of t...	ORPHA:2072
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive	OMIM:212750
Pycnodysostosis	Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Small hand, Hepatosplenomegaly, Short foot, Oste...	ORPHA:763
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Ataxia, Metatarsus adductus, Kyphosis, Flexion contract...	OMIM:259050
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Platyspondyly, Short femoral ne...	OMIM:313400
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormality of the tongue muscle, Inabilit...	ORPHA:273
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, ...	ORPHA:2461
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Abnormal form of the ve...	ORPHA:818
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Werner Syndrome	Skeletal muscle atrophy, Small hand, Rocker bottom foot, Slender build	ORPHA:902
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Spina ...	ORPHA:2369
Liposarcoma	Weight loss	ORPHA:69078
Cap Polyposis	Weight loss	ORPHA:160148
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Speech apraxia, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodacty...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Speech apraxia, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodacty...	ORPHA:363958
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Congenital Myopathy 13	Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur...	OMIM:255995
Bullous Pemphigoid	Weight loss	ORPHA:703
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Cerebral atrophy	OMIM:618252
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral bodies, Hyperto...	OMIM:230500
Behçet Disease	Myositis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, G...	ORPHA:117
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint...	OMIM:601701
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Kyphosis...	OMIM:616914
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Arachnodactyly, Kyphoscoliosis, Atlantoaxial ...	ORPHA:536545
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ...	ORPHA:3042
Thymic Carcinoma	Weight loss	ORPHA:99868
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck, Genu valgum	ORPHA:2983
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowing of the legs, Autoimmune ...	ORPHA:1855
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Anemia, M...	ORPHA:89842
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Riddle Syndrome	Ataxia, Weight loss, Clumsiness, Gait disturbance, Chromosomal breakage induced by ionizing radia...	ORPHA:420741
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Stickler Syndrome, Type I	Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Scoliosis, Morbus Scheuerma...	OMIM:108300
Noonan Syndrome 14	Scapular winging, Short neck, Kyphosis, Clinodactyly, Lymphopenia	OMIM:619745
Micro Syndrome	Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy	ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, 2-3 toe syndactyly, Cerebral atrophy, Scoliosis, Spasticity	OMIM:616449
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Patent ductus arteriosus, S...	ORPHA:79329
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Sarcoidosis	Hypercalcemia	ORPHA:797
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha...	ORPHA:404440
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Somatic sensory dysfunction, Neutrophilia, Swelling of proximal interpha...	ORPHA:3260
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Chronic Beryllium Disease	Weight loss	ORPHA:133
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Cystinosis, Nephropathic	Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Cerebr...	OMIM:219800
Localized Scleroderma	Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy	ORPHA:90289
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Leukopenia, Truncal obesity, Hemophagocy...	OMIM:222700
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Thrombocytopenia, Dysmetria, Clinodactyly, Anemia	OMIM:620185
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Kyphosis, Increased mean corpuscular volume,...	ORPHA:261250
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Felty Syndrome	Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Long fingers, ...	ORPHA:401973
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Pyomyositis	Myositis, Weight loss	ORPHA:764
Kaposi Sarcoma	Weight loss	ORPHA:33276
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Generalized amyotr...	ORPHA:171
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Myositis, Abnormality of the peripheral nervous s...	ORPHA:289390
Cono-Spondylar Dysplasia	Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphyses of the phalanges of...	ORPHA:420794
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Weight loss	ORPHA:95427
Pemphigus Vulgaris	Weight loss	ORPHA:704
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Flexion contractur...	ORPHA:85408
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring...	ORPHA:2789
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass, Cachexia	ORPHA:744
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Short Syndrome	Brachydactyly, Weight loss, Short palm	ORPHA:3163
Cowden Syndrome	Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly	ORPHA:201
Erdheim-Chester Disease	Abnormal metaphysis morphology, Ataxia, Anemia, Weight loss	ORPHA:35687
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Genu ...	OMIM:619194
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Bowing of the legs, Pheochromocytoma, Abnormal central motor function,...	ORPHA:97685
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Weight loss	ORPHA:449400
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Mesomelia, Scoliosis, ...	OMIM:616894
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platysp...	OMIM:616482
Coffin-Siris Syndrome 1	Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ap...	OMIM:135900
Nephroblastoma	Weight loss	ORPHA:654
Rat-Bite Fever	Back pain, Anemia, Tendonitis, Weight loss	ORPHA:31205
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Kyphosis, Vertebral segmentation defect, Short middle phalanx of finger, Scoli...	ORPHA:1005
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Weight loss	ORPHA:2902
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Juvenile Dermatomyositis	Calcinosis, Myositis, Weight loss	ORPHA:93672
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Weight loss	ORPHA:2070
Brucellosis	Liver abscess, Lung abscess, Small for gestational age, Abnormality of the peripheral nervous sys...	ORPHA:1304
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture...	OMIM:618223
Zttk Syndrome	Kyphosis, Patent ductus arteriosus, Flexion contracture, Optic atrophy, Small hand, Hemivertebrae...	OMIM:617140
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Decreased muscle mass, Tethered cord, Pseudoepiphyses of the ...	OMIM:194190
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis	OMIM:609008
Aspartylglucosaminuria	Kyphosis, Vacuolated lymphocytes, Cerebral atrophy, Spasticity, Macroglossia, Platyspondyly, Spon...	OMIM:208400
Yao Syndrome	Weight loss	OMIM:617321
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis, Tibial bowing	OMIM:259420
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Leukocytosis, Increased body weight, Proximal amyotrophy, Weight loss...	ORPHA:99889
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl...	ORPHA:955
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati...	ORPHA:284339
Sotos Syndrome	Hypercalcemia	ORPHA:821
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat...	ORPHA:536532
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Kyphosis, Genu valgum, Chronic myelogenous leukemia, Paresthesia, Pheochromo...	ORPHA:636
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Camptodactyly of finger, ...	ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Impaired pain sensation, Kyphosis, Increased femoral antevers...	OMIM:619005
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Triphalangeal t...	ORPHA:2232
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Weight loss, Abnormality of the extraocular muscles, Optic nerve compression, Thrombocy...	ORPHA:79078
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c...	ORPHA:77301
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Frank-Ter Haar Syndrome	Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Metatarsus ad...	OMIM:249420
Tropical Endomyocardial Fibrosis	Cachexia, Myocardial calcification	ORPHA:75565
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Lymphoid Interstitial Pneumonia	Failure to thrive, Clubbing, Weight loss	ORPHA:79128
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Kyphosis, Cerebral atrophy	OMIM:619244
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia	ORPHA:54251
Ménétrier Disease	Weight loss	ORPHA:2494
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Facial palsy, Abnormal metacarpal morphology, Kyphosis, Abnormal finger morpho...	ORPHA:2658
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Fibular hypop...	ORPHA:140
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Failure to thrive, Anemia, Weight loss	OMIM:619377
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Singleton-Merten Syndrome 1	Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalang...	OMIM:182250
Cole-Carpenter Syndrome	Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me...	ORPHA:2050
Simple Cryoglobulinemia	Weight loss, Paresthesia, Chronic lymphatic leukemia, Spontaneous pain sensation	ORPHA:91139
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica...	ORPHA:1724
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Microcytic an...	OMIM:256040
Cowden Syndrome 1	Kyphosis, Lymphopenia, Scoliosis, Intention tremor	OMIM:158350
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Talipes equinova...	OMIM:617821
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Myoclonus	OMIM:258850
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Failure to thrive	OMIM:239000
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Classic Homocystinuria	Arachnodactyly, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Genu valgum, Scoliosis	ORPHA:394
Dermatomyositis	Inflammatory myopathy, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Acromegaly	Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Larg...	ORPHA:963
Primary Hepatic Neuroendocrine Carcinoma	Neuroendocrine neoplasm, Carcinoid tumor, Weight loss	ORPHA:100085
Somatomammotropinoma	Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Larg...	ORPHA:314769
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Subcortical cerebral atrophy, Abnormali...	ORPHA:2273
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Klatskin Tumor	Weight loss	ORPHA:99978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Paresthesia, Thr...	ORPHA:71493
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Weight loss	ORPHA:97287
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Kyphosis, Cone-shaped epiphyses of the phalanges of the h...	OMIM:119600
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Alstrom Syndrome	Kyphosis, Truncal obesity, Scoliosis	OMIM:203800
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anemia, Weight loss	ORPHA:71273
Kikuchi-Fujimoto Disease	Ataxia, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutropenia, Anemia	ORPHA:50918
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Leukopenia, Vertebral comp...	ORPHA:77259
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Decreased bod...	ORPHA:508
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Renal tubular epithelial necrosis, Weight loss	ORPHA:49041
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Neuroendocrine Tumor Of Stomach	Weight loss, Iron deficiency anemia, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid...	ORPHA:100075
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, P...	OMIM:610915
Atypical Werner Syndrome	Skeletal muscle atrophy, Failure to thrive, Rocker bottom foot, Osteolytic defects of the phalang...	ORPHA:79474
Mend Syndrome	Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hyperto...	OMIM:300960
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Autoimmune Pulmonary Alveolar Proteinosis	Clubbing, Weight loss	ORPHA:747
Q Fever	Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia	ORPHA:781
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight...	ORPHA:2298
Polycythemia Vera	Splenomegaly, Weight loss, Acute leukemia	ORPHA:729
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Optic neuropathy, Splenomegaly, Clubbing, Weight loss	OMIM:181000
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Kyphosis, Coxa vara, Talipes equinovarus, Scolio...	OMIM:278250
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Tetrasomy 9P	Myositis, Sacral dimple, Short neck, Abnormal spinal cord morphology, Small hand, Talipes equinov...	ORPHA:3310
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Caroli Disease	Splenomegaly, Leukocytosis, Liver abscess, Weight loss	ORPHA:53035
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Oculocerebrorenal Syndrome Of Lowe	Clonus, Kyphosis, Genu valgum, Anemia, Platyspondyly, Scoliosis, Abnormal metaphysis morphology, ...	ORPHA:534
Familial Osteodysplasia, Anderson Type	Kyphosis, Bifid femur, Abnormal form of the vertebral bodies, Aplasia/hypoplasia of the femur, Sc...	ORPHA:2769
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Osteogenesis Imperfecta, Type Iv	Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae...	OMIM:166220
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Occipital Horn Syndrome	Short humerus, Orthostatic hypotension, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum...	OMIM:304150
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Occipital Horn Syndrome	Aplasia/hypoplasia of the humerus, Coxa valga, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Familial Pancreatic Carcinoma	Back pain, Weight loss, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss	ORPHA:160
Hutchinson-Gilford Progeria Syndrome	Coxa valga, Weight loss, Shuffling gait, Osteolytic defects of the distal phalanges of the hand, ...	ORPHA:740
Granulomatosis With Polyangiitis	Hemiplegia, Granulomatosis, Weight loss	ORPHA:900
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav...	OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
Pierson Syndrome	Skeletal muscle atrophy	OMIM:609049
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Kyphosis, Genu valgum, Finger swelling, Platyspondyly...	OMIM:309000
Pancreatoblastoma	Weight loss	ORPHA:677
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Postinfectious Vasculitis	Weight loss, Abnormality of the peripheral nervous system	ORPHA:48435
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Small intestine carcinoid, Weight loss	ORPHA:100078
Chronic Graft Versus Host Disease	Pancytopenia, Flexion contracture, Weight loss	ORPHA:99921
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Pulmonary Alveolar Microlithiasis	Clubbing of fingers, Stippled calcification in carpal bones, Weight loss	ORPHA:60025
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Kyphosis, Spina bifida	ORPHA:1393
Tropical Pancreatitis	Weight loss	ORPHA:103918
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Viss Syndrome	Long toe, Arachnodactyly, Rocker bottom foot, Kyphosis, Patent ductus arteriosus, Hypereosinophil...	OMIM:619472
Lipodystrophy, Congenital Generalized, Type 1	Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries	OMIM:608594
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar...	ORPHA:99413
Mosaic Monosomy X	Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar...	ORPHA:99226
Turner Syndrome	Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar...	ORPHA:881
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Renal tubular epithelial necrosis, Weight loss, Normochromic anem...	ORPHA:91500
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Coxa valga, Tapered finger, Kyphosis, ...	OMIM:303600
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Cryptorchidism, Labial hypertrophy	ORPHA:96191
Ramon Syndrome	Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight	OMIM:266270
Lipodystrophy, Congenital Generalized, Type 2	Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries	OMIM:269700
Charge Syndrome	Hypocalcemia	OMIM:214800
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Branchiooculofacial Syndrome	Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Short thumb, Preaxial hand ...	OMIM:113620
Cdags Syndrome	Kyphosis	OMIM:603116
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Tarsal synostosis	ORPHA:85199
Malt Lymphoma	Weight loss	ORPHA:52417
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Nocardiosis	Weight loss, Brain abscess, Liver abscess, Cutaneous abscess	ORPHA:31204
Reactive Arthritis	Weight loss	ORPHA:29207
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto...	OMIM:619381
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive, Premature fusion of the radial epiphyseal plates	ORPHA:90794
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Short metatarsal, Absent hallux, Tapered finger, Aplasi...	OMIM:216340
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Alström Syndrome	Optic disc pallor, Somatic sensory dysfunction, Thoracic scoliosis, Ataxia, Incoordination, Kypho...	ORPHA:64
Goodpasture Syndrome	Anemia, 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 Zfp106

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Zfp106.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Zfp106^{tm1a(KOMP)Wtsi} Zfp106^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Zfp106^{tm1a(KOMP)Wtsi}	PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Zfp106^{tm1a(KOMP)Wtsi}	PMC5676932
Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106.	eLife (January 2017)	Zfp106^{tm1a(KOMP)Wtsi}	PMC5283830
Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106.	Proceedings of the National Academy of Sciences of the United States of America (July 2016)	Zfp106^{tm1a(KOMP)Wtsi}	PMC4978283
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.	Human molecular genetics (November 2015)	Zfp106^{tm1a(KOMP)Wtsi}	PMC4706115
Cell autonomous phosphoinositide 3-kinase activation in oocytes disrupts normal ovarian function through promoting survival and overgrowth of ovarian follicles.	Endocrinology (January 2015)	Zfp106^{tm1a(KOMP)Wtsi}	PMC4399322
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2013)	Zfp106^{tm1a(KOMP)Wtsi}	PMC3745610
The mouse genetics toolkit: revealing function and mechanism.	Genome biology (June 2011)	Zfp106^{tm1a(KOMP)Wtsi}	PMC3218837

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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
Zfp106^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Zfp106^{tm1c(KOMP)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Zfp106^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Zfp106 MGI:1270153

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Zfp106 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data