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Gene: Vcp MGI:99919

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

valosin containing protein

Synonyms:

p97, AAA ATPase p97, CDC48, p97/VCP

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Vcp 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 Vcp (11 diseases)
Human diseases predicted to be associated with Vcp (1653 diseases)

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

Disease	Matching phenotypes	Source
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ...	OMIM:167320
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Distal muscle weakness, Short stature, Hyperlordosis, Fatty replac...	ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Degeneration of the...	ORPHA:275872
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness ...	ORPHA:803
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle wea...	ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in upper limbs, Impaired distal vibration sensation, Proximal muscle wea...	OMIM:616687
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Generalized muscle weakness, Increased spinal bone density	ORPHA:329475
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem...	ORPHA:100070

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

Disease	Matching phenotypes	Source
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ...	OMIM:254110
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet...	OMIM:608358
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat...	OMIM:117000
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle ...	OMIM:618129
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spin...	OMIM:620386
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Abdominal wall muscle w...	OMIM:619733
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ...	OMIM:617030
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m...	OMIM:618484
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Seizure, Myopathy, Myoclonus, Generalized myoclonic seizure, Mu...	OMIM:545000
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Facial palsy, Neck flexor weakness, Decreased activity of mitochondrial complex IV...	OMIM:616209
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ...	OMIM:616199
Myopathy, Centronuclear, 2	Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:255200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl...	OMIM:615424
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-...	OMIM:619178
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Cardio...	OMIM:609200
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Short stature, Facial palsy, Neck flexor weakness, Cent...	OMIM:602771
Bethlem Myopathy 2	Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Hip dislocation, Myopa...	OMIM:616471
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb-girdle mu...	ORPHA:86812
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Ulnar deviation of the hand, Elbow ...	OMIM:620310
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w...	OMIM:616228
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Distal muscle weakness, Distal amyotrophy, ...	OMIM:619042
Myopathy, Centronuclear, 4	Seizure, Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle f...	OMIM:614807
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Congenital hip dislocat...	OMIM:255310
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f...	ORPHA:598
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ...	ORPHA:59135
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m...	ORPHA:611
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista...	ORPHA:178464
Mitochondrial Myopathy With Diabetes	Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Decreased activity of mitochond...	OMIM:500002
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Generalized muscle weakness, ...	OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ...	OMIM:167320
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw...	ORPHA:486815
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Short stature, Neck flex...	ORPHA:457050
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima...	OMIM:618655
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal musc...	OMIM:255160
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Paget di...	OMIM:615422
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia...	OMIM:620246
Nonaka Myopathy	Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle...	OMIM:605820
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we...	OMIM:614065
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Degeneration of ante...	OMIM:253400
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca...	OMIM:158810
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ...	OMIM:612999
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ...	OMIM:620249
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Scapuloperonea...	OMIM:300696
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ...	OMIM:158600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Dilated cardiomyopathy...	OMIM:300718
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle...	OMIM:620235
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ...	OMIM:605355
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Respiratory...	OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies	OMIM:609273
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Ventricular septal defect, Kyphoscoliosis, Centrally nucleat...	OMIM:619542
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers sign, Respirat...	OMIM:610687
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Short stature, Centrally nucleated...	OMIM:248800
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Distal muscle weakness, Short stature, Hyperlordosis, Fatty replac...	ORPHA:52430
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, Type 1H	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu...	OMIM:613530
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re...	ORPHA:266
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness...	OMIM:605637
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness	OMIM:616231
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor...	ORPHA:1145
Inclusion Body Myositis	Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles	OMIM:147421
Klhl9-Related Early-Onset Distal Myopathy	Progressive distal muscle weakness, Ankle flexion contracture, Impaired vibration sensation in th...	ORPHA:399081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Generalized non-motor (absence) seizure, Increased variability in muscle fiber diameter...	OMIM:618992
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Cardiomegaly, Proximal muscl...	OMIM:618654
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Proximal mu...	OMIM:300717
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T...	OMIM:181400
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ...	ORPHA:399096
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus...	OMIM:609524
Congenital Muscular Dystrophy, Ullrich Type	Short neck, Flexion contracture, Knee flexion contracture, Generalized amyotrophy, Long toe, Scol...	ORPHA:75840
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Poor head control, Spinal rigidity, Hyperlordosis, Gowe...	ORPHA:97244
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Merrf	Generalized myoclonic seizure, Myopathy, Ragged-red muscle fibers, Ataxia	ORPHA:551
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Proximal muscle weakness, Fatty replacement of skeletal muscle, Decreased activity of mitochondri...	OMIM:255100
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople...	OMIM:618940
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz...	OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Proximal muscle weakness, Gowers sign, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dys...	OMIM:612937
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi...	OMIM:613204
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w...	OMIM:609284
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyop...	OMIM:300580
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le...	OMIM:160500
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Welander Distal Myopathy	Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles	OMIM:604454
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Progress...	ORPHA:2596
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Progressive...	OMIM:619518
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog...	OMIM:611588
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Proximal muscle weakness, Ragged-red m...	OMIM:616924
Zebra Body Myopathy	Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,...	ORPHA:97240
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Distal muscle weakness, Fiber type grouping	OMIM:614369
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop...	OMIM:618323
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:105550
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Muscle wea...	OMIM:253550
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Multiple joint contractures, Decreased mitochondrial number...	ORPHA:352470
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616437
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Myopathy, Decreased activity of mitochondrial complex I, Intrauterine growth ret...	OMIM:618246
Central Core Disease	Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Respiratory insufficienc...	ORPHA:597
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ...	OMIM:619216
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Myopathy, Neonatal death, Decreased activity o...	OMIM:618237
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac...	ORPHA:270
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Gowers sign, Achil...	OMIM:617258
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Childhood-Onset Nemaline Myopathy	Scapular winging, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Fatigable we...	ORPHA:171439
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal muscle weakness, ...	ORPHA:353327
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl...	OMIM:606070
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Generalized-onset seizure, Ataxia, Proximal muscle weakn...	OMIM:620166
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness	OMIM:205250
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn...	OMIM:619477
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Myasthenic Syndrome, Congenital, 17	Muscle weakness, Type 1 muscle fiber predominance	OMIM:616304
Adult-Onset Nemaline Myopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr...	ORPHA:171442
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy	OMIM:611895
Isolated Glycerol Kinase Deficiency	Seizure, Osteoporosis, Myopathy	ORPHA:408
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Myopathy, Tubular Aggregate, 1	Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis, Proximal muscle weakness	OMIM:614750
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Gowers sign, Synophrys, Ragged-red muscle fibers, Axial muscle weakness, Gene...	OMIM:620351
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg...	OMIM:609286
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w...	OMIM:608627
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ...	ORPHA:178145
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea...	OMIM:600175
Congenital Myopathy 2A, Typical, Autosomal Dominant	Bulbar palsy, Neck flexor weakness, Facial palsy, Hyperlordosis, Spinal rigidity, Respiratory ins...	OMIM:161800
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari...	OMIM:614399
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re...	OMIM:602099
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles	OMIM:614373
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Congenital Myopathy 14	Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:618414
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Hyperlordosis, Proxi...	OMIM:620389
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Bulbar palsy, Generalized-onset seizure, Progressive external ophthalmop...	ORPHA:254875
Cardiomyopathy, Dilated, 1X	Proximal muscle weakness, Gowers sign, Dilated cardiomyopathy, Calf muscle hypertrophy, Increased...	OMIM:611615
Neuropathy, Ataxia, And Retinitis Pigmentosa	Seizure, Ataxia, Myopathy, Proximal muscle weakness	OMIM:551500
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sc...	OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness	OMIM:619141
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu...	ORPHA:600
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness	OMIM:614808
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth...	ORPHA:98897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor...	OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic han...	OMIM:619574
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Short stature, Genu varum, Abnormality of radial epiph...	ORPHA:166002
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Myopathy, Myofibrillar, 2	Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak...	OMIM:608810
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers	OMIM:619024
Acetyl-Coa Carboxylase Deficiency	Growth delay, Myopathy	OMIM:613933
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of...	ORPHA:596
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Decreased activity of mitochondrial complex IV, Generalized muscle weakness, Neonat...	OMIM:614096
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized amyotroph...	OMIM:616540
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Cardiomyop...	ORPHA:401768
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb...	OMIM:310440
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Skeletal muscle atrophy	OMIM:617892
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ...	OMIM:607641
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Progressive external ophthalmoplegia, Hyperlordosis, Patent foramen ovale, Gowers sign, Ophthalmo...	OMIM:615156
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Distal muscle weakness, Facial palsy, Restrictive cardiomyo...	OMIM:612954
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness	ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ...	OMIM:617087
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy, Proportionate short stature, Scoliosis	ORPHA:50817
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Hyperlor...	OMIM:611067
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Proximal muscle weakness	OMIM:606768
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy	OMIM:608030
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal muscle weakness, Small for gestational age, Spinal muscular atrophy, Camptodactyly of fing...	OMIM:604320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach...	OMIM:603689
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Respiratory insufficiency due to muscle...	OMIM:609560
Typical Nemaline Myopathy	Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w...	ORPHA:171436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ...	OMIM:609283
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Poor head control, Cachexia, Hyperlordosis, Spinal rigidity, Flexion con...	ORPHA:157973
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Impaired distal vibration sens...	ORPHA:276435
Desminopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne...	ORPHA:98909
Mitochondrial Complex I Deficiency, Nuclear Type 21	Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers, Growth delay	OMIM:618242
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Muscle weakness	OMIM:617709
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog...	ORPHA:641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m...	OMIM:253601
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion contracture, Faci...	OMIM:609285
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Myopathy, Distal, 3	Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu...	OMIM:610099
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Neck flexor weakness, Gowe...	ORPHA:353
Pontocerebellar Hypoplasia, Type 1A	Spinal muscular atrophy, Degeneration of anterior horn cells, Congenital contracture, Distal amyo...	OMIM:607596
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Generalized-onset seizure, Respiratory insufficiency due to muscle weakn...	OMIM:300816
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Muscle weakness	OMIM:616314
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Degeneration of the...	ORPHA:275872
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of...	ORPHA:370980
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ...	OMIM:616239
Spastic Paraplegia Type 7	Cerebellar atrophy, Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscl...	ORPHA:99013
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht...	OMIM:605809
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arth...	ORPHA:178148
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Decreas...	ORPHA:352447
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Seizure, Myopathy, Skeletal muscle atrophy	ORPHA:2597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Gowers sign, Flexion contr...	OMIM:253700
Myasthenic Syndrome, Congenital, 12	Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph...	OMIM:610542
Neutral Lipid Storage Disease With Myopathy	Short stature, Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, C...	OMIM:610717
Muscle Filaminopathy	Back pain, Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormal...	ORPHA:171445
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myop...	OMIM:616816
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank...	ORPHA:280333
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc...	OMIM:615348
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Neck flexor weakn...	ORPHA:300605
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Increased intramyocellular lipid droplets, Inc...	OMIM:619065
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu...	ORPHA:98896
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Decreased activity of mitochondrial respiratory chain	OMIM:613076
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Developmental And Epileptic Encephalopathy 59	Poor head control, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Focal...	OMIM:617904
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Gowers sign, Amyoplasia, Scapular w...	OMIM:181405
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal muscle weakness, Axonal degeneration, Proximal amyotrophy, Degeneration of anterior horn...	OMIM:604484
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness	ORPHA:300179
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ...	ORPHA:98905
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor...	OMIM:157640
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98855
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Distal muscle weakness, Spinal rigidity, Proximal muscle ...	OMIM:618524
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H...	OMIM:205100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Bulbar palsy, Spinal muscular atrophy, Hyperlordosis, Kyphosis...	OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m...	OMIM:617070
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu...	OMIM:619473
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator...	OMIM:254090
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Gowers sign, Dilated cardiomyopathy, Myopathy, Muscular ...	OMIM:602541
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness ...	ORPHA:803
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy...	OMIM:607684
Congenital Myopathy 15	Osteopenia, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter,...	OMIM:620161
Hypertriglyceridemia, Transient Infantile	Failure to thrive, Hypertriglyceridemia	OMIM:614480
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis	ORPHA:2598
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Spina...	ORPHA:324604
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Macrocephaly	ORPHA:356996
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Progressive muscl...	OMIM:600462
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra...	OMIM:607855
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter	ORPHA:238329
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi...	OMIM:254130
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypoplastic toenails, Myofiber disarray, Decreased activity of mitochondrial ...	OMIM:604377
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,...	OMIM:300695
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ...	OMIM:617069
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Mu...	OMIM:618276
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy	ORPHA:3416
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus	OMIM:246650
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Seizure, Myopathy, Erythroid hyperplas...	OMIM:300653
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Seizure, Status epil...	OMIM:607426
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegi...	ORPHA:254886
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Patent ductus arteriosus, Flexion contracture, Low anterior hairline, Synop...	OMIM:618658
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, ...	OMIM:616549
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Decreased activity of...	OMIM:613561
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, ...	OMIM:611890
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Neck flexor weakness, Facial palsy, Triceps wea...	ORPHA:98913
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Fatigable weakn...	ORPHA:1320
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Myopathy, Scoliosis, Decreased activity of mitochondrial complex I, Hypertrophic cardio...	OMIM:618234
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Ataxia	ORPHA:2579
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy	OMIM:302045
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hy...	OMIM:613157
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
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
Ane Syndrome	Alopecia, Multiple joint contractures, Short stature, Ulnar deviation of the hand, Kyphoscoliosis...	ORPHA:157954
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Small for gestational age, Rocke...	OMIM:214150
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, S...	OMIM:619701
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul...	OMIM:611307
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Degeneration of anterior horn cells, Arthrogryposis multiplex congenita,...	ORPHA:2254
Hypophosphatasia, Childhood	Seizure, Myopathy, Craniosynostosis	OMIM:241510
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Kyphosis, Short thumb, Cerebral atrophy, Camptodactyly, Clinodact...	OMIM:618453
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Adducted Thumbs Syndrome	Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Hypertrichosis	OMIM:201550
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus	OMIM:162350
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Brain atrophy, Decreased activity of mitochondrial complex I...	OMIM:618236
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Flexion contracture, Focal tonic seizure, ...	OMIM:617106
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu...	OMIM:603511
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Dilated cardiomyopathy, Calf m...	ORPHA:34515
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth...	OMIM:619790
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, D...	ORPHA:206546
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality of the mitochondrion	ORPHA:91130
Nemaline Myopathy 10	Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir...	OMIM:616165
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Severe short stature, Metatarsus valgus, Coxa valga, Avascular necrosis ...	ORPHA:559
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal lower limb muscl...	OMIM:619903
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Abnormal iron deposition in mitochondria, Rhabdo...	OMIM:255125
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Gowers sign, Proximal muscle weakness, P...	OMIM:617404
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo...	OMIM:618924
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial ...	OMIM:615084
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Dysmetria, Ophthalmoparesis, Gait ataxia, Myopat...	ORPHA:254881
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Poor head control, Failure to thrive, Cardiomyopathy	OMIM:613752
Arts Syndrome	Seizure, Ataxia, Progressive muscle weakness	OMIM:301835
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Leber Hereditary Optic Neuropathy	Myopathy, Mitochondrial respiratory chain defects	ORPHA:104
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Chorea, Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Progressive proximal muscle weakness, Chorea, Seizure, Myopathy, Limb-girdle muscular dystrophy, ...	ORPHA:369847
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm...	ORPHA:2790
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Cachexia, Ragged-red muscle fibers, Decreased activity of m...	OMIM:613662
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle wea...	ORPHA:329478
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Myoclonic seizure	OMIM:616187
Combined Oxidative Phosphorylation Deficiency 28	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra...	OMIM:616794
Intellectual Developmental Disorder, Autosomal Dominant 5	Congenital muscular torticollis, Torticollis, Bilateral tonic-clonic seizure, Seizure, Myoclonic ...	OMIM:612621
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impa...	ORPHA:330050
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,...	OMIM:300559
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Proximal muscle weakn...	OMIM:613327
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Poor head control, Facial palsy, Abnormal muscle fiber ...	ORPHA:171881
Infantile Refsum Disease	Seizure, Ataxia, Facial palsy, Progressive muscle weakness	ORPHA:772
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure, Reduced bone mineral density	OMIM:620200
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G...	OMIM:605021
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dysmetria, M...	OMIM:617810
Glycogen Storage Disease Iii	Ventricular hypertrophy, Short stature, Myopathy, Distal amyotrophy, Cardiomyopathy, Muscle weakness	OMIM:232400
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou...	OMIM:204300
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness	ORPHA:2349
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Flexion co...	OMIM:271225
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadocho...	OMIM:614487
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Myopathy, Abdominal obes...	OMIM:615980
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure...	OMIM:611726
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy, Late-onset spinocerebellar degeneration	OMIM:230450
Mitochondrial Complex I Deficiency, Nuclear Type 12	Bilateral tonic-clonic seizure, Ataxia, Proximal muscle weakness, Choreoathetosis, Seizure, Myocl...	OMIM:301020
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ...	OMIM:614302
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Progressive muscle weaknes...	ORPHA:91131
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei...	OMIM:617113
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Left ventric...	OMIM:540000
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystrophy, Nail dysp...	OMIM:226670
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Seiz...	OMIM:618416
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O...	OMIM:601462
Hereditary Continuous Muscle Fiber Activity	Seizure, Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Failure to thrive, Cardiomyopathy, Intrauterine growth retardation	ORPHA:26792
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Gowers sign, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, In...	ORPHA:119
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Defective DNA repair after ultraviolet radiation damage, Microcephaly	OMIM:278780
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Sengers Syndrome	Decreased activity of mitochondrial complex IV, Generalized muscle weakness, Decreased activity o...	OMIM:212350
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral atr...	OMIM:105500
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure, Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular ...	ORPHA:369840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl...	OMIM:609308
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb...	ORPHA:208441
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac...	ORPHA:3152
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Acquired Partial Lipodystrophy	Seizure, Myopathy, Lymphocytosis	ORPHA:79087
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Distal muscle weakness, Bilateral tonic-clonic seizure, Lower limb muscle weakness, Ataxia, Dysme...	ORPHA:313772
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Chromosome 15Q11-Q13 Duplication Syndrome	Seizure, Bilateral tonic-clonic seizure, Truncal ataxia	OMIM:608636
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl...	OMIM:619301
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Skeletal muscle atrophy, Bilateral tonic-clonic seizure	ORPHA:100988
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal...	ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Axial Osteomalacia	Myopathy, Increased bone mineral density, Osteomalacia, Proximal muscle weakness	OMIM:109130
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Cryptor...	OMIM:175700
Congenital Myopathy 24	Scapular winging, Facial palsy, Gowers sign, Cardiomyopathy, Talipes equinovarus, Type 1 muscle f...	OMIM:617336
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle ...	OMIM:258450
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Decreased muscle glycogen content, Bilateral tonic-clonic seizure	OMIM:611556
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Ragged-red muscle fibers, Ophthalmoparesis, Paroxysmal choreoathetosis, Myoclonus	OMIM:500003
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Spinocerebellar Ataxia, Autosomal Recessive 12	Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia	OMIM:614322
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ...	OMIM:300219
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl...	OMIM:619302
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysis, Pl...	OMIM:620011
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter	OMIM:125250
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus	OMIM:615362
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Short neck, External ophthalmoplegia, Flexion contracture, Growth d...	OMIM:619026
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly	OMIM:614885
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyop...	OMIM:252011
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action m...	OMIM:616230
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure, Muscle weakness, Gait ataxia	OMIM:617862
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Emotional lability, Obesity, Microcephaly	OMIM:309585
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Gliosis, Arthrogryposis multiple...	OMIM:615095
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Cryptorchidism, Kyphosis, Camptodactyly,...	OMIM:618393
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Poor head control, My...	OMIM:617976
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Severe short stature, Poor head control, P...	ORPHA:3208
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge...	ORPHA:2590
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Muscle weakness	ORPHA:247604
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter	OMIM:617235
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl...	OMIM:616503
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals...	ORPHA:98915
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra...	OMIM:619461
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Cryptorchidism, Gowers sign, Fatiguable ...	ORPHA:319332
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower...	ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I...	ORPHA:477774
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoat...	OMIM:617519
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz...	ORPHA:382
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Short stature, Kyphosis, Platyspondyly, Flared...	OMIM:230650
Lipodystrophy, Congenital Generalized, Type 3	Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele...	OMIM:615368
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized amyotrophy, Dysmetria, Gait ataxia	OMIM:203740
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize...	ORPHA:98818
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Familial Isolated Dilated Cardiomyopathy	Myopathy, Abnormality of neutrophils	ORPHA:154
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Splenomegaly, Clonic ...	OMIM:610539
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Hepatosplenomegaly, Myopathy	ORPHA:33574
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Myocl...	OMIM:614018
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Distal muscle weakness, Kyphosis, Scoliosis	ORPHA:101078
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G...	ORPHA:57
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Distal muscle weakness, Proximal muscle weakness, Upper limb muscle ...	ORPHA:99939
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion...	OMIM:608840
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz...	ORPHA:36387
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ...	ORPHA:970
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Gliosis	OMIM:225753
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617171
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:613877
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Kearns-Sayre Syndrome	Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Pr...	ORPHA:480
Lissencephaly 3	Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure	OMIM:611603
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ventricular septal defect, Cerebellar gliosis, Flexion contracture, Ce...	ORPHA:79243
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Muscle weakness, Abnormal muscle fiber protein expression	ORPHA:330054
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Decreased activit...	OMIM:615418
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness	OMIM:619133
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness	OMIM:615511
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Distal muscle weakness, Short stature, Kyphosis, Ophthalmoplegia, Split hand, Obesity, Scoliosis,...	OMIM:618124
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Adrenomyodystrophy	Seizure, Myopathy, Reduced bone mineral density	ORPHA:977
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Splenomegaly, Limb-girdle muscle weakness, Rhabdomyolysis, Osteoporosis,...	ORPHA:79240
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Poor head control, Bilateral tonic-clonic seizure, Ankle flexi...	OMIM:617468
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Hip dysplasia, Facial myokymia, Failure to thrive	OMIM:620007
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cachexia, Cardiomegaly, Proximal muscle weakness, Fatigable weakness, My...	ORPHA:42
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe...	OMIM:616981
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Seizure, Limb mu...	OMIM:610131
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria	OMIM:619191
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Bilateral tonic-clonic seizure, Osteoporosis, Dysmetria, Gait ataxia, Seizure, Status...	ORPHA:529665
Spinocerebellar Ataxia 28	Cerebellar atrophy, Ragged-red muscle fibers, Ophthalmoparesis, Lower limb hypertonia, Abnormal a...	OMIM:610246
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Mitochondrial respiratory chain de...	ORPHA:319514
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi...	OMIM:618497
Sarcosinemia	Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia	ORPHA:3129
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers, Decreased activity of mitochondrial complex III	OMIM:615159
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:620317
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
Diabetes Mellitus, Permanent Neonatal, 2	Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on...	OMIM:618856
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Poor head control, Hypoplasia of the musculature, Ankle flexion contracture, Res...	ORPHA:2020
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Respiratory insu...	OMIM:615512
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus	OMIM:254800
Systemic Primary Carnitine Deficiency	Neck muscle weakness, Bilateral tonic-clonic seizure with focal onset, Muscle weakness	ORPHA:158
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Poor head control, Hyperlordosis, Proximal muscle weak...	ORPHA:26791
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure	OMIM:619639
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Hyperlordosis, Abnormal muscle fiber morpho...	ORPHA:3068
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Short stature, Kyphosis, Congenital bilateral hip dislocation, Talipes...	ORPHA:85288
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Carnitine Deficiency, Systemic Primary	Cardiomegaly, Proximal muscle weakness, Myopathy, Cardiomyopathy, Reduced muscle carnitine level,...	OMIM:212140
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow, Restrictive partial ...	OMIM:609384
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Torticollis, Lower limb hypertonia, Gliosis, Cerebral cortical atrophy	OMIM:618369
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Sparse eyebrow, Synophrys,...	OMIM:617193
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Gait ataxia, Bilateral tonic-clonic seizure, Dysmetria, Hypomimic face	OMIM:615031
Barth Syndrome	Failure to thrive, Gowers sign, Dilated cardiomyopathy, Abnormal mitochondrial morphology, Growth...	OMIM:302060
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S...	OMIM:616645
Coenzyme Q10 Deficiency, Primary, 9	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Type 2 muscle fiber pre...	OMIM:619028
Mcleod Syndrome	Generalized-onset seizure, Acanthocytosis, Splenomegaly, Chorea, Rhabdomyolysis, Seizure, Myopath...	OMIM:300842
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Pelizaeus-Merzbacher Disease, Connatal Form	Poor head control, Short stature, Abnormal morphology of musculature of pharynx, Gliosis, Failure...	ORPHA:280210
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Poor head control, Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Seizure,...	OMIM:612949
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Myasthenic Syndrome, Congenital, 6, Presynaptic	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn...	OMIM:254210
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Vacuolated lymphocytes, Bilateral tonic-clonic seizure, Myoclonus	OMIM:204200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegi...	OMIM:616479
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Increased variability in muscle fiber diameter	OMIM:617915
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Gliosis	OMIM:300857
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex...	ORPHA:506
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:280356
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Macrocephaly, Self-injurious behavior...	OMIM:613670
Xeroderma Pigmentosum, Complementation Group F	Microcephaly, Defective DNA repair after ultraviolet radiation damage, Dementia, Decreased body w...	OMIM:278760
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Ophthalmoplegia, Ophthalmoparesis, Hyperconvex fingernails, Myopathy, Fatigable weaknes...	ORPHA:257
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	ORPHA:79137
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Myopathy	OMIM:613345
Ataxia-Telangiectasia-Like Disorder 2	Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Joint contracture, Muscle w...	OMIM:615919
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left ven...	OMIM:300280
15Q24 Microdeletion Syndrome	Small for gestational age, Short stature, Congenital diaphragmatic hernia, Proximal placement of ...	ORPHA:94065
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short...	ORPHA:40
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Proximal muscle weakness, Impaired distal proprioception, Ragged-re...	ORPHA:70595
Bilateral Generalized Polymicrogyria	Total ophthalmoplegia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasm...	ORPHA:208447
Arthrogryposis Multiplex Congenita 6	Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m...	OMIM:619334
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Muscle weakness	OMIM:613435
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int...	ORPHA:681
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Dysmetria, Gait ataxia, Generalized myoclonic seizure	OMIM:618090
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Spinal rigidity, Proximal ...	OMIM:616720
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Myofiber di...	OMIM:619424
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple...	ORPHA:264580
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Long eyelashes, Scoliosis...	ORPHA:48431
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Split hand, Distal amyotrophy, ...	OMIM:607831
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Multifocal seizures, Diastasis recti, Progressive muscle weakness, Osteo...	ORPHA:488632
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Muscle weakness	OMIM:170400
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Spi...	OMIM:254940
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e...	OMIM:616455
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Poor head control, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic ...	OMIM:619913
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Global brain atrophy	OMIM:236792
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Low anterior hairline, H...	OMIM:248500
Oculopharyngodistal Myopathy 1	Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph...	OMIM:164310
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Neurodevelopmental Disorder With Involuntary Movements	Poor head control, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Athetosis, Focal imp...	OMIM:617493
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter...	OMIM:616866
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, My...	ORPHA:713
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Neutral Lipid Storage Myopathy	Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske...	ORPHA:98908
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ...	OMIM:618291
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,...	OMIM:300434
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Thick hair, Proximal muscle weakness, Gowers sign, Increased variability in muscle...	ORPHA:502423
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se...	ORPHA:140927
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Limb hypertonia, Gliosis, Talipes equinovarus, Adducted thumb	OMIM:612936
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Diaphragmatic weakness, EMG: myopathic abnormalities, Brain atrophy, Intrauterin...	OMIM:620326
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Developmental And Epileptic Encephalopathy 14	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	OMIM:614959
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Generaliz...	OMIM:620278
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Gait ataxia, Seizure, Myopathy, Status epilepticus, Myoclonus	ORPHA:363400
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure	OMIM:226750
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Status ...	OMIM:271980
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper...	OMIM:620028
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Ophthalmoplegia, Generalized non-mot...	OMIM:618170
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Short stature, Overlapping toe, Highly arched eyebrow, Ophthalmoplegia, EMG: myopathic abnormalit...	ORPHA:457365
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Muscle weakness, Scoliosis	ORPHA:99014
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Decreased plasma total carnitine, Cardiomyopat...	ORPHA:228305
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger	ORPHA:3454
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Bilateral tonic-clonic seizure, Abnormality of neutrophils, Hyposegmen...	OMIM:169400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Poor head control, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonu...	ORPHA:289266
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tendon contracture,...	OMIM:607155
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Short stature, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnorm...	ORPHA:352490
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu...	ORPHA:368
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm...	OMIM:617143
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Cryptorchidism,...	OMIM:301900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Bilateral tonic-clonic seizure, Muscle weakness, Ankle flexion contracture	OMIM:618120
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Gait ...	OMIM:618917
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Generalized muscle weakness, Fatigable weakness, Myopathy, Hypertrophic c...	ORPHA:99901
Osteochondrosis Of The Metatarsal Bone	Thickened cortex of bones, Sclerosis of foot bone	ORPHA:564003
Hemimegalencephaly	Oculomotor nerve palsy, Gliosis, Abnormal neuron morphology	ORPHA:99802
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Wieacker-Wolff Syndrome	Short stature, Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hi...	OMIM:314580
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Flexion contracture, Focal tonic seizure, Myoclo...	OMIM:617105
Immunodeficiency 9	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign, Myopathy...	OMIM:612782
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Ophthalmoplegia, Seizure, M...	ORPHA:98673
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrocephaly	OMIM:620065
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem...	ORPHA:528
Mcdonough Syndrome	Short stature, Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:2471
Native American Myopathy	Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal muscle fiber size...	ORPHA:168572
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Flexion contracture, Brain atrophy, Muscle fiber atrophy, Failure to thrive, Cerebral cortical at...	OMIM:620240
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-motor (absence) seizure...	ORPHA:485350
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Severe Canavan Disease	Seizure, Poor head control, Bilateral tonic-clonic seizure	ORPHA:314911
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Short stature, Progressive proximal muscle weakness, Obesity, Central nervous system de...	ORPHA:98907
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Epilepsia partialis continua, Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Status epile...	OMIM:271245
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Ophthalmoparesis, Febrile...	ORPHA:1349
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Abnormality of ...	ORPHA:2348
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness	OMIM:300076
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Flexion contracture, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:616281
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:66628
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure, Muscle weakness	OMIM:609924
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Cachexia, External ophthalmoplegia, Myopathy, Abnormal mitral valve morp...	ORPHA:1876
Combined Oxidative Phosphorylation Deficiency 33	Progressive external ophthalmoplegia, Cardiomegaly, Decreased activity of mitochondrial complex I...	OMIM:617713
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Poor head control, Failure to thrive, Mitochondri...	OMIM:615595
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Gliosis, Scoliosis	ORPHA:357225
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:617836
Cerebral Creatine Deficiency Syndrome 2	Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Febrile seizure (within the age range...	OMIM:612736
Ck Syndrome	Seizure, Abnormal cortical bone morphology	OMIM:300831
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Low anterior hairline, Coxa vara, Wrist flexion ...	ORPHA:800
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia, Cardiomyopathy	ORPHA:1215
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Cerebral atrophy, Talipe...	OMIM:616756
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Hyperest...	ORPHA:1310
Lethal Congenital Contracture Syndrome 10	Torticollis, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers...	OMIM:617022
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Bilateral tonic-clonic seizure, Ataxia, Seizur...	ORPHA:464282
Spinocerebellar Ataxia 48	Ataxia, Bilateral tonic-clonic seizure, Chorea, Dysmetria, Gait ataxia	OMIM:618093
Danon Disease	Myocardial necrosis, Distal muscle weakness, Cardiomegaly, Proximal muscle weakness, Dilated card...	OMIM:300257
Cln3 Disease	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Vacuolated lymphocytes, Myoclonic se...	ORPHA:228346
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Seizure, Bilateral tonic-clonic seizure, Hypomimic face	OMIM:300423
Machado-Joseph Disease	Cerebellar atrophy, External ophthalmoplegia, Distal amyotrophy, Gliosis, Spinocerebellar tract d...	OMIM:109150
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Delayed ossification of carpal bones, Short f...	OMIM:618392
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Bulbar palsy, Poor head control, Congenital hip dislocation, Kyph...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Bulbar palsy, Poor head control, Congenital hip dislocation, Kyph...	ORPHA:590
Hypotonia-Cystinuria Syndrome	Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Long eyelashes, Failure to ...	OMIM:606407
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Flexion contracture, Myopathy, Cardiomyopathy, Scoliosis, Weakness of f...	OMIM:201470
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb...	ORPHA:93360
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Focal-on...	OMIM:619743
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Paresthesia	ORPHA:53583
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Rocker bottom foot, Tapered finger, Cryptorchidism, ...	OMIM:615547
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skele...	OMIM:255710
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity	ORPHA:179494
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept...	OMIM:613970
Pyle Disease	Muscle weakness, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus	ORPHA:726
Chanarin-Dorfman Syndrome	Myopathy, Alopecia, Muscle weakness	OMIM:275630
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyo...	ORPHA:367
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus	OMIM:617290
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Arachnodactyly, Kyphosis, Ophthalmoplegia, Absent phalangea...	OMIM:108145
Leigh Syndrome	Ophthalmoplegia, Hepatocellular necrosis, Gliosis, Failure to thrive, Hypertrichosis	OMIM:256000
Xp21 Deletion Syndrome	Decreased muscle mass, Osteoporosis, Reduced bone mineral density, Seizure, Myopathy, Calf muscle...	ORPHA:261476
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Short stature, Sandal gap, Cryptorchidism, Kyphosis, Small hand, Sh...	OMIM:300354
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Hirsutism	OMIM:277950
Glycogen Storage Disease Xii	Short stature, Short neck, Low posterior hairline, Myopathy, Delayed puberty, Increased variabili...	OMIM:611881
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Localized osteoporosis, Bilateral tonic-clonic seizure	ORPHA:199354
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Neuronal loss in central nervous system, Gliosis, Limb hypertonia	OMIM:614498
Intellectual Developmental Disorder, Autosomal Dominant 26	Short stature, Small for gestational age, Highly arched eyebrow, Kyphosis, Scoliosis, Clinodactyl...	OMIM:615834
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Cdkl5-Deficiency Disorder	Hallux valgus, Poor head control, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Grow...	ORPHA:505652
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	ORPHA:79085
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Cervical ...	OMIM:177170
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Foot joint contracture	ORPHA:457205
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Uln...	ORPHA:1358
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Bilateral tonic-clonic seizure, Limb hypertonia, Focal impaired awareness se...	OMIM:301058
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Pain insensitivity, Distal muscle weakness, Ataxia, Progressive muscle w...	OMIM:256810
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Optic Atrophy 11	Ataxia, Splenomegaly, Dysmetria, Seizure, Facial diplegia, Athetosis, Increased variability in mu...	OMIM:617302
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anterior beaking of l...	OMIM:253220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cortical atrophy, Proximal muscle weakness	OMIM:615911
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Huntington Disease	Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:143100
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis	OMIM:615119
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneou...	OMIM:114300
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Kyphosis, Scoliosis, Cerebral cortical atrophy	ORPHA:2047
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Hypoplasia of the corpus callosum, Dysphagia, Mental deterioration, Abnormal periventric...	OMIM:604360
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus add...	ORPHA:3101
Sialidosis Type 2	Skeletal muscle atrophy, Short stature, Kyphosis, Flexion contracture, Muscle weakness	ORPHA:87876
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes...	OMIM:300957
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Myopathy, Mitochondrial, And Ataxia	Short stature, Thick hair, Growth delay, Distal amyotrophy, Scoliosis, Increased variability in m...	OMIM:617675
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Status ep...	ORPHA:561854
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus...	ORPHA:298
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Bilateral tonic-clonic seizure, Gait ataxia	ORPHA:488635
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, Neuronal loss in central nervous system, Gliosis, Global brain atrophy	OMIM:221820
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Prolonged G2 p...	OMIM:227646
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa...	ORPHA:412
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Coenzyme Q10 Deficiency, Primary, 3	Decreased level of coenzyme Q10 in skeletal muscle, Bilateral tonic-clonic seizure with focal ons...	OMIM:614652
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Short stature, Myopathy	ORPHA:85329
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Abnormal mitochondrial shape, Short femur, Patent ductus ...	ORPHA:17
Autosomal Dominant Progressive External Ophthalmoplegia	Ataxia, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalmoplegia, Ragg...	ORPHA:254892
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placement of thumb, Crypt...	ORPHA:628
Spinocerebellar Ataxia, Autosomal Recessive 2	Short stature, Gliosis, Cerebellar vermis atrophy	OMIM:213200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:604317
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Limb muscle weakness, Lower limb muscl...	OMIM:614409
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Flexion contracture, Ophthalmoparesis, Skeletal muscle hypertrophy, Myop...	ORPHA:682
Arthrogryposis, Distal, Type 4	Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Low anterior hairline, Low posterior hair...	OMIM:609128
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Limb ataxia, Status e...	OMIM:617166
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo...	ORPHA:1945
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Split hand, Gliosis, Abnormal astrocyte morphology	ORPHA:168486
X-Linked Intellectual Disability, Hedera Type	Bilateral tonic-clonic seizure, Dysmetria, Left ventricular hypertrophy, Atonic seizure, Hypomimi...	ORPHA:93952
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Short stature, Tapered finge...	OMIM:301072
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atrophy, Dec...	OMIM:124000
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Highly arched e...	OMIM:619173
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Rhabdomyolysis, Dilated cardiomyopathy, Generalized muscle weakness, M...	OMIM:609015
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ...	ORPHA:365
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Arachnodactyly, Kyphosis, Coarse hair, Join...	ORPHA:1883
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen...	ORPHA:444490
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Tapere...	ORPHA:2953
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Melas	Progressive external ophthalmoplegia, Short stature, Ragged-red muscle fibers, Dilated cardiomyop...	ORPHA:550
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Upper limb hypertonia	ORPHA:319199
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Small for gestational age, Decreased activity of mit...	OMIM:615471
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Distal muscle weakness, Short stature, Facial pals...	OMIM:301041
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in upper limbs, Impaired distal vibration sensation, Proximal muscle wea...	OMIM:616687
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Progressive external ophthalmoplegia, Gait ataxia	OMIM:613077
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Generalized muscle weakness, Cerebral atrophy, Neurodegeneration, Gliosis, Ne...	OMIM:256600
Cystinosis	Short stature, Myopathy, Delayed puberty, Failure to thrive, Muscle weakness	ORPHA:213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Neuromuscular Oculoauditory Syndrome	Poor head control, Bilateral tonic-clonic seizure, Infantile spasms, Knee flexion contracture, Ca...	OMIM:618733
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (a...	OMIM:615637
Tay-Sachs Disease	Cerebellar atrophy, Skeletal muscle atrophy, Hip flexor weakness, Distal muscle weakness, Quadric...	ORPHA:845
Three M Syndrome 1	Scapular winging, Small for gestational age, Short stature, Short neck, Hyperlordosis, Increased ...	OMIM:273750
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obe...	ORPHA:3409
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Arachnodactyly, Cachexia, Short neck, Elbow flexion contracture, ...	ORPHA:371364
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes...	ORPHA:171430
Huntington Disease-Like 1	Cerebellar atrophy, Weight loss, Abnormal shoulder morphology, Gliosis, Cerebral cortical atrophy	ORPHA:157941
Bardet-Biedl Syndrome 22	Large for gestational age, Microcephaly, Obesity, Macrocephaly, Polyphagia	OMIM:617119
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Postnatal growth retardation, Cryptorchidism, Dilated cardiomyopath...	OMIM:610198
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:619428
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal cortical bone morphology	ORPHA:1486
Sanjad-Sakati Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Small hand, Spinal canal stenosis, S...	ORPHA:2323
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Neuronal loss in central nervous system, Gliosis	OMIM:607136
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Distal muscle weakness, Bilateral tonic-clonic seizure, Facial hypotonia, Sei...	ORPHA:364028
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Progressive distal muscle weakness, Equinus calcaneus, Rhabdomyolys...	ORPHA:746
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr...	OMIM:232800
Bruck Syndrome 1	Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f...	OMIM:259450
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Kyphosis, Synophrys, Scoliosis, Muscle weakness, Hypertrichosis	ORPHA:85317
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Caudate atrophy, Gliosis, Cerebral atrophy	OMIM:221770
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, Bilateral tonic-clonic seizure	ORPHA:209370
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the ...	ORPHA:3098
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy	OMIM:604218
Sandhoff Disease	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensation, ...	OMIM:268800
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Musc...	OMIM:600721
Amish Lethal Microcephaly	Limb hypertonia, Decreased skull ossification, Osteoporosis, Bilateral tonic-clonic seizure	ORPHA:99742
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes...	OMIM:211530
Polymyositis	Pericarditis, Abnormal muscle fiber morphology, Proximal muscle weakness, Dilated cardiomyopathy,...	ORPHA:732
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Overweight, Hip dysplasia, Gliosis, Decreased testicular size	ORPHA:457240
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida oc...	ORPHA:64755
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Intercostal muscle weakness, ...	ORPHA:258
Sandhoff Disease	Kyphosis, Failure to thrive, Muscle weakness	ORPHA:796
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge...	ORPHA:2311
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Cardiomyopathy, Stillbirth, Neonatal death, Cerebral cortical atrophy	OMIM:614922
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Generalized...	OMIM:612164
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Slow-growing hair, Short neck, Abnormal hair...	ORPHA:3082
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Glycogen Storage Disease Xv	Muscle weakness, Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance	OMIM:613507
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow	ORPHA:2429
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Abnormal...	ORPHA:192
Hypomelanosis Of Ito	Syndactyly, Alopecia, Kyphosis, Cerebral atrophy, Hand polydactyly, Scoliosis, Radial deviation o...	OMIM:300337
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Poor head control, Myoclonic seizure	OMIM:619877
Sporadic Creutzfeldt-Jakob Disease	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis	ORPHA:204
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Cerebral cortical atrophy	OMIM:300438
Muscle-Eye-Brain Disease	Seizure, Myopathy	ORPHA:588
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Paresthesia, Thin bony cortex	ORPHA:75508
Familial Isolated Hypoparathyroidism	Seizure, Myopathy	ORPHA:2238
Kearns-Sayre Syndrome	Sideroblastic anemia, Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Sei...	OMIM:530000
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Acute rhabdomyolysis, Infantile spasms, Atax...	ORPHA:480864
Lipe-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati...	ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Obesity, Secondary microcephaly, Periventricular white matter hyperin...	OMIM:619737
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Seizure, Myopathy, Focal impaired awareness seizure...	ORPHA:90289
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:615381
Familial Expansile Osteolysis	Osteolysis, Thin bony cortex	OMIM:174810
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con...	OMIM:130060
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Helsmoortel-Van Der Aa Syndrome	Gliosis, Short 4th toe, Atrial septal defect, Prominent fingertip pads, Clinodactyly of the 5th f...	OMIM:615873
Pontocerebellar Hypoplasia, Type 2A	Congenital contracture, Gliosis, Cerebral cortical atrophy	OMIM:277470
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Short stature, Obesity	OMIM:618822
Immunodeficiency 10	Myopathy, Nail dysplasia	OMIM:612783
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Focal tonic...	ORPHA:168491
Gorham-Stout Disease	Osteopenia, Torticollis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis in...	ORPHA:73
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto...	ORPHA:2616
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Generalized hirsutism, Short stature, Hyperlordosis, Paten...	ORPHA:354
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxia...	OMIM:614557
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorc...	OMIM:619797
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormality of the vertebral spinous processes, Myelopathy, Tendon xanthomato...	ORPHA:909
Sulfite Oxidase Deficiency, Isolated	Choreoathetosis, Bilateral tonic-clonic seizure, Ataxia	OMIM:272300
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos...	ORPHA:583
Masa Syndrome	Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Adducted thumb	OMIM:303350
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial necrosis, Muscle fiber a...	ORPHA:228302
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Poor head control, Congenital hip dislocation, Limb joint contracture, Facial...	ORPHA:404454
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Proximal muscle weakness, Proximal amyotrophy, Mitral valve prolapse, ...	OMIM:606408
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Synophrys, Abnormal tibia morphology, Low anterior hairline, Ve...	ORPHA:251014
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure...	OMIM:619835
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Renal tubular epithelial necrosis, Myopathy, Decreased plasma total carnitine, Ca...	ORPHA:157
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin...	ORPHA:1328
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Short stature, Kyphosis, Postaxial hand polyda...	ORPHA:2916
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Short stature, Bicuspid aortic valve, Kyphosc...	ORPHA:536545
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder, Macrocephaly	OMIM:618725
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Bilateral tonic-clonic seizure, Ataxia, Osteoporosis, Generalized non-motor (absence)...	OMIM:615398
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Rett Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Short foot, Scoliosis, Cerebral corti...	OMIM:312750
Emanuel Syndrome	Torticollis, Sacral dimple, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmat...	OMIM:609029
Scleromyxedema	Distal muscle weakness, Proximal muscle weakness, Abnormal skeletal muscle morphology, Seizure, M...	ORPHA:167635
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Dextrocardia, Short neck, Postnatal growth retardation, Cr...	OMIM:248700
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Short neck, Cryptorch...	ORPHA:254346
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebra...	ORPHA:2822
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Abdominal wall muscle weakness, Short stature, Cachexia, Myopathy, Scoli...	ORPHA:109
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Failure to thrive, Hypoglycemia	ORPHA:369
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ophthalmoplegia, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Gliosis, Left ventr...	OMIM:618321
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Cessation of head growth, Obesity, Inappropriate laughter, P...	ORPHA:411515
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ...	OMIM:115197
Seckel Syndrome 10	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins...	OMIM:617253
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Proximal mu...	ORPHA:206572
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei...	ORPHA:268947
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Ophthalmoplegia, Decreased activity of mitochondrial complex IV, Ragged-red mu...	OMIM:614924
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut...	OMIM:234250
14Q11.2 Microduplication Syndrome	Microcephaly, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Molybdenum Cofactor Deficiency, Complementation Group C	Poor head control, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclon...	OMIM:615501
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic seizure, Myoclonic...	OMIM:619580
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Short stature, Ventricular septal defect, Congenital diaphragmatic...	OMIM:617602
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:268940
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Thick eyebrow, Proxim...	OMIM:162300
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617600
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Ventricular septal defect, Sandal gap, Tapered finger, Kyphosis,...	OMIM:617061
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Ruvalcaba Syndrome	Short palm, Short metacarpal, Short stature, Micromelia, Cryptorchidism, Kyphosis, Short metatars...	OMIM:180870
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased muscle mass, Corpus callosum atrophy, Split hand, Hammertoe, Gliosi...	OMIM:261515
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ...	ORPHA:79106
Sialidosis Type 1	Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosi...	ORPHA:812
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology	ORPHA:166277
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky...	OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly	ORPHA:2786
Kleefstra Syndrome Due To A Point Mutation	Short stature, Large for gestational age, Tapered finger, Abnormal heart morphology, Gliosis, Fai...	ORPHA:261652
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormal c...	ORPHA:2075
Fanconi Anemia, Complementation Group E	Small for gestational age, Microcephaly, Cryptorchidism, Prolonged G2 phase of cell cycle, Defici...	OMIM:600901
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Flexion contracture, Seizure, Fo...	ORPHA:481152
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Finger syndactyly...	ORPHA:2215
Stormorken Syndrome	Howell-Jolly bodies, Proximal muscle weakness, Asplenia, Anemia, Myopathy, Hypoplastic spleen, Th...	OMIM:185070
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Hypertrophic ...	OMIM:617403
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Short stature, Camptodactyly of finger, Cachexia, Short neck, Abnormal hair patte...	ORPHA:85293
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Short stature, Iliac crest serration, H...	OMIM:607326
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Synophrys, Small hand, Growth delay, Short foot...	ORPHA:238750
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morph...	OMIM:215470
Leukoencephalopathy With Vanishing White Matter 1	Gliosis	OMIM:603896
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Micromelia, Femoral retroversion, Kyphosis, Macroglossia, Sc...	ORPHA:79107
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity	ORPHA:819
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:203800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Proximal upper limb muscle hypertrophy, Generalized hi...	ORPHA:280365
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Narrow greater sciatic notch, Cervical cord compression, Abnormal...	ORPHA:508533
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Alpha-Mannosidosis	Bowing of the long bones, Short neck, Kyphosis, Macroglossia, Hip dysplasia, Scoliosis, Hypoplast...	ORPHA:61
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Obesity, D...	ORPHA:3085
Developmental And Epileptic Encephalopathy 61	Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
Japanese Encephalitis	Skeletal muscle atrophy, Neutrophilia, Bilateral tonic-clonic seizure, Facial palsy, Paucity of a...	ORPHA:79139
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis, Generalized muscle weakness, ...	ORPHA:1900
Fanconi Anemia, Complementation Group A	Small for gestational age, Microcephaly, Cryptorchidism, Prolonged G2 phase of cell cycle, Defici...	OMIM:227650
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Bruck Syndrome	Bowing of the long bones, Short stature, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis,...	ORPHA:2771
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur...	ORPHA:3042
Congenital Myopathy 17	Overlapping fingers, Failure to thrive in infancy, Overlapping toe, Tapered finger, Myopathy, Dis...	OMIM:618975
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Cryptorchidism, Kyphosis, Low posterior hairline, P...	ORPHA:2617
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Impaired vibratory sensation, Ataxia, Acanthocytosis, Impaired dista...	ORPHA:14
Carcinoid Syndrome	Myopathy, Hepatic necrosis	ORPHA:100093
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:435651
Baralle-Macken Syndrome	Tapered finger, Kyphosis, Obesity, Global brain atrophy, Hirsutism	OMIM:619255
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp...	ORPHA:15
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Tethered cord, Short stature, Bicuspid aortic valve, Ven...	OMIM:130720
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Neonatal death, Hepatic periportal necrosis, Electron transfer flavoprotein-ubiquinone o...	OMIM:231680
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Hypertric...	OMIM:617190
Myotonic Dystrophy 2	Neck flexor weakness, Frontal balding, Proximal muscle weakness, Oligozoospermia, Generalized amy...	OMIM:602668
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Kyphosis, Ophthalmoparesis, Scoliosis, Atrophy/Degen...	ORPHA:88644
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Low anterio...	OMIM:615761
Spastic Paraplegia 9A, Autosomal Dominant	Distal muscle weakness, Short stature, Corpus callosum atrophy, Abnormal pelvic girdle bone morph...	OMIM:601162
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Hypoplastic ...	OMIM:313400
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Self-mutilation, Obesity, Cerebral atrophy, Polyphagia, Thin corpus callosum	OMIM:616521
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Frank-Ter Haar Syndrome	Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Abnormal metacarpal morpholo...	ORPHA:137834
Koolen-De Vries Syndrome	Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Vertebral fusion, Short st...	OMIM:610443
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:619827
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, Gliosis, Atrophy/De...	OMIM:614946
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Abnorma...	ORPHA:1969
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Hallux valgus, Facial hypotonia, Small for gestational age, Sandal ...	ORPHA:506358
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Facial hypotonia, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Flexion contracture, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:544503
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Nocturnal seizures	OMIM:619725
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Impulsivity, Increased body weight, Attention deficit hyperactivity disorder	ORPHA:589905
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Obesity, Stereotypical hand wringing, Low frustration toleran...	ORPHA:163681
Hurler Syndrome	Short stature, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hyp...	OMIM:607014
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Small for gestational age, Cryptorchidism, Cerebral atrophy, Gliosis	OMIM:619847
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d...	ORPHA:1858
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Ragged-red muscle fibers, Ophth...	ORPHA:255210
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz...	ORPHA:395
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Abnormal heart valve morphology, Short neck, Kyphosis, Flexi...	OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy	OMIM:616538
Osteogenesis Imperfecta, Type Xvii	Decreased muscle mass, Short stature, Bowed humerus, Kyphoscoliosis, Hip dislocation, Thin metaca...	OMIM:616507
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Bilateral tonic-clonic seizure, Muscle weakness	OMIM:201475
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Kyphosi...	ORPHA:3121
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Kyphosis, Small hand, Cerebral atrophy, Short foot, Scoliosi...	OMIM:617435
Obesity Due To Sim1 Deficiency	Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp...	ORPHA:369873
Caffey Disease	Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Poor head control, Bilateral tonic-clonic seizure	OMIM:619356
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati...	OMIM:143095
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Spasticity of facial muscles, Cerebral cortical atrophy	OMIM:606353
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondy...	ORPHA:2655
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615716
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal fe...	OMIM:271640
Spondyloepiphyseal Dysplasia Congenita	Back pain, Short neck, Abnormally ossified vertebrae, Lumbar hyperlordosis, Flat acetabular roof,...	ORPHA:94068
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Triphalangeal thumb, E...	ORPHA:2549
Fanconi Anemia, Complementation Group C	Small for gestational age, Microcephaly, Cryptorchidism, Prolonged G2 phase of cell cycle, Defici...	OMIM:227645
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Astrocytoma, Myopathy, Cardiomyopathy, Generalized hirsutism	ORPHA:79086
Mucopolysaccharidosis, Type Iva	Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of...	OMIM:253000
Glass Syndrome	Bilateral tonic-clonic seizure, Facial hypotonia, Seizure, Camptodactyly, Febrile seizure (within...	OMIM:612313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst...	OMIM:613150
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ...	OMIM:252605
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Ataxia, Myoclonus, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Glycerol Kinase Deficiency	Seizure, Osteoporosis, Muscular dystrophy, Myopathy	OMIM:307030
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Muscle weakness	OMIM:600081
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
Cockayne Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Dry hair, Severe short stature, Cachexia, Postnatal ...	ORPHA:191
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Distal muscle weakness, Sparse eyebrow, Kyphosis, Hand clenching,...	OMIM:617988
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Tapered finger	OMIM:618512
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Low...	OMIM:619909
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) ...	ORPHA:435638
Hereditary Late-Onset Parkinson Disease	Weight loss, Gliosis, Cerebral cortical atrophy, Hypomimic face	ORPHA:411602
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Severe short stature, Brachydactyly, Kyphosis, Hip dislocation, Mode...	ORPHA:1005
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Hip dy...	OMIM:618846
3C Syndrome	Finger syndactyly, Brachydactyly, Short stature, Ventricular septal defect, Abnormal mitral valve...	ORPHA:7
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Decreased body weight, E...	OMIM:182250
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, D...	ORPHA:33364
Distal Triplication 15Q	Arachnodactyly, Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contractur...	ORPHA:314588
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure	ORPHA:83451
Lissencephaly, X-Linked, 2	Gliosis, Decreased testicular size	OMIM:300215
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities	ORPHA:684
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Increased body weight, Progressive neurologic deterioration	ORPHA:276608
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Generalized hirsutism, Short stature, Cryptorchidism, Patent duct...	ORPHA:1606
Dysostosis, Stanescu Type	Bowing of the long bones, Short stature, Micromelia, Hyperlordosis, Short neck, Kyphosis, Macrogl...	ORPHA:1798
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gliosis, Short stature, Tapered finger, Cryptorchidism, Scoliosis, Aortic valve stenosis, Hallux ...	ORPHA:268261
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure, Limb hypertonia, Focal impaired awareness seizure	ORPHA:488613
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Fucosidosis	Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to t...	ORPHA:349
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk short stature, Proxima...	OMIM:113500
Snakebite Envenomation	Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula...	ORPHA:90041
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on...	ORPHA:501
Prader-Willi Syndrome	Decreased muscle mass, Short palm, Syndactyly, Short stature, Cryptorchidism, Acromicria, Obesity...	OMIM:176270
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interpha...	OMIM:607015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Large for gestational age, Short neck, Patent ductus arteriosus, Flexion contrac...	OMIM:300868
Noonan Syndrome 14	Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis...	OMIM:619745
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Generaliz...	ORPHA:79241
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Crisponi Syndrome	Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis	ORPHA:1545
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Arthrogryposis multiplex congeni...	ORPHA:496641
Leber Optic Atrophy	Myopathy, Ataxia	OMIM:535000
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Lower limb amyotrophy, G...	OMIM:300912
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Type 1 muscle fiber atrophy, Cerebral atrophy, Type 2 muscle fiber predominance, ...	OMIM:619036
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar...	OMIM:618325
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Macroglossia, Abnormal mitochondrial shape, Cerebral atrophy	ORPHA:412217
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Sparse facial hair,...	ORPHA:2232
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Cohen Syndrome	Low anterior hairline, Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Arachnod...	ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 42	Bilateral tonic-clonic seizure, Lower limb muscle weakness, Infantile spasms, Tonic seizure, Foca...	OMIM:616973
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:79264
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Spina ...	ORPHA:3219
Xeroderma Pigmentosum, Complementation Group A	Mental deterioration, Defective DNA repair after ultraviolet radiation damage, Microcephaly	OMIM:278700
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Abnormal testis morphology, Microcephaly, Cryptorchidism, Obesity, Depr...	ORPHA:96147
De Sanctis-Cacchione Syndrome	Microcephaly, Bilateral cryptorchidism, Basal ganglia calcification, Defective DNA repair after u...	OMIM:278800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Abdominal wall muscle weakness, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:264700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Abdominal wall muscle weakness, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:277440
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Secundum atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Growth ...	OMIM:612541
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Cranio-Osteoarthropathy	Abnormal cortical bone morphology	ORPHA:1525
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Facial hypotonia, Highly arched eyebrow, Short neck, Genu valgum, Macroglossi...	ORPHA:309282
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Myoclonus, Ataxia	OMIM:607876
Mitochondrial Complex I Deficiency, Nuclear Type 29	Proximal muscle weakness, Abnormal heart morphology, Decreased activity of mitochondrial complex ...	OMIM:618250
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia	OMIM:602481
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Muscle weakness, Hypophosphatem...	OMIM:241530
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	ORPHA:457351
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, S...	OMIM:618443
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology, Seizure	OMIM:614886
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal cardiac...	OMIM:608776
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity, Macrocephaly	OMIM:614651
Gm1-Gangliosidosis, Type Ii	Ataxia, Splenomegaly, Sea-blue histiocytosis, Generalized myoclonic seizure, Thin bony cortex	OMIM:230600
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Albinism, Postnatal growth retardation, Dilated c...	OMIM:242840
Marden-Walker Syndrome	Skeletal muscle atrophy, Severe short stature, Ventricular septal defect, Camptodactyly of finger...	ORPHA:2461
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Abnormal cardiomyocyte morph...	ORPHA:565612
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Cryptorc...	OMIM:301040
Sotos Syndrome	Aggressive behavior, Cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus cal...	OMIM:117550
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomegaly, Seizure, Myoclonus	ORPHA:309155
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Poor head control, Ragged-red muscle fibers, Concent...	OMIM:252010
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Cerebral atrophy, Limb hypertonia	ORPHA:500180
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Cessation of hea...	ORPHA:98794
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Limb hypertonia, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:620070
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphos...	OMIM:128100
Xfe Progeroid Syndrome	Failure to thrive, Defective DNA repair after ultraviolet radiation damage, Cachexia, Microcephaly	OMIM:610965
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Multiple joint contractures, Ataxia, Focal-o...	OMIM:618143
Warburg Micro Syndrome 3	Decreased muscle mass, Flexion contracture, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:614222
Xanthinuria, Type I	Myopathy	OMIM:278300
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Highly arched eyebrow, Cryp...	ORPHA:261318
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Small hand, Intrinsic hand muscle atrophy, Short foot, Gliosis, Scoliosis, Decr...	OMIM:615273
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Cerebral cortical atrophy	ORPHA:886
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Arachnodactyly, Scoliosis	ORPHA:1548
Xeroderma Pigmentosum, Complementation Group D	Mental deterioration, Defective DNA repair after ultraviolet radiation damage, Microcephaly	OMIM:278730
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Bulbar palsy, Rocker bottom foot, Kyphosis, Postaxial ha...	ORPHA:521426
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Ovoid vertebral bodies, Hyperlordosis, Epiphys...	OMIM:253010
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, ...	OMIM:619951
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Reduced bone mineral density	OMIM:619795
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Wolfram Syndrome	Ataxia, Ophthalmoplegia, Seizure, Myopathy, Anemia	ORPHA:3463
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Ophthalmoparesis, Episodi...	ORPHA:79102
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Kleefstra Syndrome 2	Growth delay, Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Facial palsy, Supernumerary nipple, Sparse eyebrow, Kyphosis...	ORPHA:261349
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Tall stature	OMIM:618406
Mucolipidosis Type Ii	Hip contracture, Dry hair, Short stature, Diastasis recti, Abnormal mitral valve morphology, Post...	ORPHA:576
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Obesity, Membranous subvalvular aortic stenosis, Scoliosis, ...	ORPHA:3191
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Bulbar palsy, Rocker bottom foot, Postaxial polydactyly, Kyphosis, Long fingers, Contractures of ...	OMIM:617527
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized no...	OMIM:620224
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:619911
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia	OMIM:617591
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Chorea, Athetosis	OMIM:619435
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Bilateral cryptorchid...	ORPHA:544488
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Congenital Insensitivity To Pain With Severe Intellectual Disability	Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure	ORPHA:453510
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seiz...	ORPHA:289157
Progressive Supranuclear Palsy	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Supranuclear ophthal...	ORPHA:683
Hermansky-Pudlak Syndrome 10	Poor head control, Bilateral tonic-clonic seizure, Splenomegaly, Neutropenia, Focal myoclonic sei...	OMIM:617050
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Cessation of head growth, Obesity, Mild microcephaly,...	ORPHA:411511
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Myopathy, Thrombocytopenia	ORPHA:169090
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb...	OMIM:219090
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater...	ORPHA:98795
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:616672
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Oligozoospermia, Weight loss, Myopathy, Abnormal testis morphology	ORPHA:85450
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ragged-red muscle fibers,...	OMIM:603041
Clark-Baraitser syndrome	Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorchidism	OMIM:300602
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy	OMIM:159400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Limb hypertonia, HbH hemoglobin, Bilateral tonic-clonic seizure	ORPHA:423479
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Platyspondyly, Atrial septal defec...	ORPHA:93274
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacar...	OMIM:602535
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs...	ORPHA:79351
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Cryptorchidism, Obesity,...	ORPHA:3157
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Gm1-Gangliosidosis, Type I	Severe short stature, Abnormal heart valve morphology, Short neck, Kyphosis, Dilated cardiomyopat...	OMIM:230500
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Abnormal heart morphology, Cardiomyopathy, Scoliosis	ORPHA:79327
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Gliosis	OMIM:169500
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synop...	OMIM:619557
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hyp...	OMIM:619418
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus	OMIM:220120
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea...	ORPHA:275761
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical verte...	ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Aggressive behavior, Increased body weight, Self-i...	OMIM:300860
Early Infantile Epileptic Encephalopathy	Poor head control, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, ...	ORPHA:1934
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P...	ORPHA:309246
Oculodentodigital Dysplasia	Ataxia, Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Seizure, Abnormal cortical b...	ORPHA:2710
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:3378
Autosomal Recessive Robinow Syndrome	Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Atrial septal def...	ORPHA:1507
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Increased body mass index, Increased body weight	OMIM:614450
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Short foot,...	ORPHA:500055
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Atrial sep...	OMIM:194190
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Focal myocl...	ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615474
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short stature, Hypoplastic right heart, Ventricular septal defect, Sho...	OMIM:616894
Leptin Receptor Deficiency	Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia	OMIM:614963
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Abnormal heart valve morphology, Hyperlordosis, Short ne...	ORPHA:582
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619983
Familial Acute Necrotizing Encephalopathy	Generalized muscle weakness, Gliosis	ORPHA:88619
Stromme Syndrome	Myopathy, Stillbirth, Preaxial polydactyly	OMIM:243605
Cardiofacioneurodevelopmental Syndrome	Brachydactyly, Ventricular septal defect, Cryptorchidism, Kyphosis, Pulmonic stenosis, Camptodact...	OMIM:619123
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, M...	OMIM:219800
Harrod Syndrome	Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal shoulder morphology, Abnormal pelvic girdle bo...	ORPHA:2115
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Atypical Rett Syndrome	Total ophthalmoplegia, Kyphosis, Small hand, Growth delay, Short foot, Scoliosis	ORPHA:3095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Microtriplication 11Q24.1	Hyperlipidemia, Obesity	ORPHA:289522
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Small for gestational age, Short stature, Ventricular...	ORPHA:464306
X Small Rings	Seizure, Osteoporosis, Bilateral tonic-clonic seizure, Reduced bone mineral density	ORPHA:96201
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Retrocollis, Senile plaque...	OMIM:601104
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Bilateral tonic-clonic seizure, Rhabdomyolysis, Seizure, Muscle weakness	OMIM:610505
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Cryptorchidism, Kyphosis...	ORPHA:404440
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Overweight, Head-banging, Self-injurious behavior, Lateral ventricle dilata...	OMIM:619575
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ...	OMIM:300554
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Status epilep...	OMIM:610042
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Kyphosis, Truncal obesity	OMIM:219080
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Scoliosis, Camptodactyly, Flexion...	ORPHA:88628
Intellectual Developmental Disorder, Autosomal Dominant 54	Poor head control, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal impaired awareness seiz...	OMIM:617799
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Finger syndactyly, Ventricular septal defect, Overlapping toe, Sparse eyebrow,...	ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Seizure, Decreased muscle mass, Osteoporosis, Thin bony cortex	OMIM:309583
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric...	ORPHA:79259
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Pelvic girdle muscle atrophy, Bila...	ORPHA:3044
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Bilateral tonic-clonic seizure, Pure red cell aplasia	OMIM:618165
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure	OMIM:271900
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei...	OMIM:614231
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Limb muscle weakness, Oculomotor nerve palsy, Abnormal oligodendro...	ORPHA:217260
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Cryptorchidism, Kyphosis, Flexion contracture, Small han...	ORPHA:398069
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Diffuse cerebral atrophy, Gliosis	ORPHA:3240
Pycnodysostosis	Ridged nail, Brachydactyly, Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Hypoplastic iliac wi...	ORPHA:763
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure, Elevated hemoglobin A1c	OMIM:619278
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, Short palm, Atrial septa...	OMIM:249420
Sjögren-Larsson Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:816
Mend Syndrome	Sacral dimple, Short stature, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long finge...	ORPHA:401973
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Short lower limbs	OMIM:259440
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Abnormal mitochondrial shape, External ophthalmoplegia, Growth delay, Muscle ...	ORPHA:485421
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Genu valgum, Spin...	ORPHA:2983
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, Gliosis, Neonatal death	OMIM:252160
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia, Autoimmune th...	ORPHA:436159
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Bicuspid aortic valve, Highly arched eyebrow, Mitral atresia, Decrease...	OMIM:220111
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Scolio...	OMIM:618493
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Scoliosis	OMIM:610743
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Microform Holoprosencephaly	Short stature, Scoliosis, Intrauterine growth retardation, EMG: myopathic abnormalities, Tetralog...	ORPHA:280200
Choreoacanthocytosis	Impaired vibratory sensation, Distal muscle weakness, Bilateral tonic-clonic seizure, Acanthocyto...	ORPHA:2388
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Ophthalmoplegia, Pontocerebellar atrophy, ...	ORPHA:171629
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Bilateral tonic-clonic seizure, Abnormal lymphocyte count, Thrombocytopenia, Abnorm...	ORPHA:79124
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Prominent interphalangeal joints, Atrial septal defect...	OMIM:135900
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t...	ORPHA:420794
Cockayne Syndrome Type 2	Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation, Limb h...	ORPHA:90322
Alternating Hemiplegia Of Childhood	Facial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Chorea, Focal motor seizure, Choreoathe...	ORPHA:2131
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Atrial septal defect, Promi...	ORPHA:363958
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Ventricular septal defect, Ankle flexio...	ORPHA:464311
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Impaired glucose tolerance, Insulin resistance, ...	OMIM:606721
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Kyphosis, Long fingers...	OMIM:616914
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
W Syndrome	Bilateral tonic-clonic seizure, Camptodactyly	ORPHA:2804
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Impaired pain sensation, Flex...	ORPHA:3206
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Bilateral tonic-clonic seizure, Ataxia,...	ORPHA:355
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Abnormal form of the vertebral bodies,...	ORPHA:904
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Pseudoleprechaunism Syndrome, Patterson Type	Delayed pubic bone ossification, Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Gliosis,...	OMIM:203700
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Microphthalmia, Lenz Type	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosi...	ORPHA:568
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormal form of the ve...	ORPHA:818
Melnick-Needles Syndrome	Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges...	ORPHA:2484
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Short stature, Bicuspid aortic valve, Arachnodactyly,...	ORPHA:96169
Hajdu-Cheney Syndrome	Short neck, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, Partial absence...	ORPHA:955
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyoc...	ORPHA:423
Lujo Hemorrhagic Fever	Bilateral tonic-clonic seizure, Leukocytosis, Leukopenia, Seizure, Muscle weakness, Lymphopenia, ...	ORPHA:319213
Pachydermoperiostosis	Impaired temperature sensation, Splenomegaly, Osteoporosis, Osteolysis, Abnormal cortical bone mo...	ORPHA:2796
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure	ORPHA:98784
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Kyphosis, Decreased testicular size, Proximal placement of thumb	OMIM:615433
Developmental And Epileptic Encephalopathy 49	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus	OMIM:617281
Papillorenal Syndrome	Short stature, Gliosis, Scoliosis	OMIM:120330
Srd5A3-Cdg	Cerebellar atrophy, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Hypertrichosis	ORPHA:324737
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Osteoporosis, Seizure, Lower-limb jo...	ORPHA:459070
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the ...	OMIM:618050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Supranuclear Palsy, Progressive, 2	Neuronal loss in central nervous system, Gliosis, Retrocollis, Granulovacuolar degeneration	OMIM:609454
Trisomy 9P	Sacral dimple, Brachydactyly, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, S...	ORPHA:236
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia	ORPHA:247262
Dent Disease 1	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	OMIM:300009
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal defect, Kyphosis, Syno...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Kyphosis, Scoliosis, Cerebral cortical atr...	ORPHA:702
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Embryonal rhabdomyosarcoma, Seizure, Generalized myoclonic seizur...	OMIM:257300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Short neck, Broad distal phalanx of the toes, Cryptorchidi...	OMIM:619194
H Syndrome	Diabetes mellitus, Hypertriglyceridemia	ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Failure to t...	ORPHA:905
Stickler Syndrome, Type I	Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Mitral valve prolapse, Platyspondyly, Morb...	OMIM:108300
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Synophrys,...	OMIM:300966
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Generalized osteoporosis	OMIM:617952
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy	OMIM:607485
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Kyphosis, Mitral...	OMIM:609008
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Low anterior hairli...	OMIM:618223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Mitochondrial Complex I Deficiency, Nuclear Type 2	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Gliosis	OMIM:618222
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Cryptorchidism, Kyphosis, Low ante...	OMIM:619244
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Progressive gait ataxia, Bilateral tonic-clonic seizure	ORPHA:329308
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Wrinkly Skin Syndrome	Scapular winging, Congenital hip dislocation, Short stature, Short nail, Hypoplasia of the muscul...	OMIM:278250
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor...	ORPHA:666
Lateral Meningocele Syndrome	Ventricular septal defect, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, Abnormal form of ...	ORPHA:2789
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Mgat2-Cdg	Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal heart morphology, Long ey...	ORPHA:79329
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphosco...	OMIM:300967
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Pericarditis, Pericardial effusion, Kyphosis, Flexion contracture, Cardiomyop...	OMIM:212065
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Agitation, Increased body weight, Progressive neurologic deterioration, Large for gestational age	ORPHA:263455
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Dry hair, Short stature, Cryptorchidism, Kyphosis, Cerebral ...	OMIM:216400
Kinsship Syndrome	Osteopenia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) ...	OMIM:619297
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Kyphosis, Tibial bowing, Slender long bone, Disproportionate short-limb shor...	OMIM:259420
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Short stature, Arachnodactyly, Kyphoscoliosis, Sparse eyebrow, C...	ORPHA:3063
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Thoracic scoliosis, Sacral dimple, Alopecia, Arachnodactyly, Kyphoscoliosis, Equin...	ORPHA:536532
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Generalized muscle weakness, Increased spinal bone density	ORPHA:329475
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Gliosis, Cerebral atrophy	OMIM:252150
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Myopathy, Neurodegeneration, Cerebral degeneration, Global brain atrophy	OMIM:234200
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Reduced bone minera...	ORPHA:2909
Caribbean Parkinsonism	EMG: myopathic abnormalities, Myoclonus, Progressive gait ataxia	ORPHA:97355
Insulinoma	Transient global amnesia, Polyphagia, Increased body weight	ORPHA:97279
Dermatomyositis	Abnormal hair quantity, Pericarditis, Proximal muscle weakness, Myocarditis, Weight loss, Inflamm...	ORPHA:221
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Arachnodactyly, Cachexia, Protrusio acetabuli, Kyphosis, ...	ORPHA:828
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus	ORPHA:91
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Low anterior hairline, Obesity	ORPHA:261222
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Kyphosis, Flexion contractu...	ORPHA:90324
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Abnormal spi...	ORPHA:1724
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Ne...	OMIM:618476
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, 2-3 toe syndactyly, Cerebral atrophy, ...	OMIM:616449
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Brachydactyly, Severe short stature, Facial palsy, Aplastic clavicle, Cryptorc...	ORPHA:2658
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Subcortical cerebral atrophy, Sparse hair, Abnormal vertebral morphology...	ORPHA:2273
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Kyphosis, Abnormal form of the vert...	ORPHA:2050
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Testicular neoplasm, Cache...	ORPHA:744
Parkinson Disease 1, Autosomal Dominant	Gliosis, Global brain atrophy	OMIM:168601
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,...	OMIM:616482
Alkaptonuria	Low back pain, Vertebral fusion, Mitral valve calcification, Kyphosis, Aortic valve calcification...	OMIM:203500
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Increased body weight, Depression	OMIM:615830
Familial Osteodysplasia, Anderson Type	Seizure, Abnormal cortical bone morphology	ORPHA:2769
Zttk Syndrome	Curly hair, Short stature, Ventricular septal defect, Sparse eyebrow, Kyphosis, Patent ductus art...	OMIM:617140
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Decreased number of sternal ossification centers	OMIM:234100
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral femoral bowing, Failure...	OMIM:239000
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Cockayne Syndrome B	Dry hair, Severe short stature, Small for gestational age, Postnatal growth retardation, Cryptorc...	OMIM:133540
Micro Syndrome	Short stature, Cryptorchidism, Kyphosis, Generalized hirsutism, Scoliosis, Delayed puberty, Intra...	ORPHA:2510
Oliver Syndrome	Elbow flexion contracture, Bilateral tonic-clonic seizure, Camptodactyly of finger, Knee flexion ...	ORPHA:2920
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at...	OMIM:608594
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Proximal placement of th...	ORPHA:261250
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Hyperinsulinemia, Insulin-resistant diabetes melli...	OMIM:269700
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Large for gestational age...	ORPHA:457359
Cocaine Intoxication	Bilateral tonic-clonic seizure, Focal-onset seizure, Rhabdomyolysis, Atypical absence status epil...	ORPHA:90068
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Neutropenia, Leukem...	ORPHA:221008
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral tonic-clonic seizure, Ataxia, Lower-limb joint contracture, Generalized myoclonic seizu...	ORPHA:99885
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Short stature, Aplasti...	OMIM:119600
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
15Q14 Microdeletion Syndrome	Ventricular septal defect, Short stature, Kyphosis, Scoliosis, Atrial septal defect	ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 53	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:617798
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Cachexi...	ORPHA:558
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Alexander Disease	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive, Muscle weakness	ORPHA:58
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat...	OMIM:256040
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Acute lymphoblastic leukemia, Seizure, Gait at...	OMIM:280000
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Narrow iliac wing	OMIM:616294
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Aplastic anemia, Neutropenia, Leukem...	ORPHA:221016
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Cardiac fibroma, Abnormality o...	ORPHA:77301
Fumarase Deficiency	Decreased fumarate hydratase activity, Cerebral atrophy, Perimembranous ventricular septal defect...	OMIM:606812
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Congenital diaphragmatic h...	OMIM:301044
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia	OMIM:118450
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent fi...	OMIM:216340
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure	OMIM:620066
Megalocornea-Intellectual Disability Syndrome	Short stature, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum	ORPHA:2479
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Multiple joint contractures, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms	ORPHA:447997
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Arthrogryposis multiplex congenita, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619512
17Q11 Microdeletion Syndrome	Short stature, Glioma, Rhabdomyosarcoma, Cerebellar glioma, Bowing of the legs, Kyphosis, Brainst...	ORPHA:97685
Occipital Horn Syndrome	Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Aplastic clavicle, Scoliosis...	ORPHA:198
Dent Disease	Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex	ORPHA:1652
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, S...	OMIM:610915
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Mandibuloacral Dysplasia Progeroid Syndrome	Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Overlappin...	OMIM:619708
Mend Syndrome	Sacral dimple, Short stature, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long finge...	OMIM:300960
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Osteogenesis Imperfecta, Type X	Osteopenia, Decreased calvarial ossification, Thin bony cortex	OMIM:613848
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni...	OMIM:620024
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Seizure, Lo...	ORPHA:513456
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal d...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal d...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal d...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Short neck, Hypoplastic toenails, Hyperconvex fingernails, Atrial septal d...	ORPHA:881
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Cryptorchidism, Kyphosis, Increased femoral anteversion, Long eyelashes, S...	OMIM:619005
Acromegaly	Abnormal fingernail morphology, Macrodactyly, Tapered finger, Kyphosis, Synophrys, Spinal canal s...	ORPHA:963
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti...	ORPHA:1855
Somatomammotropinoma	Abnormal fingernail morphology, Macrodactyly, Tapered finger, Kyphosis, Synophrys, Spinal canal s...	ORPHA:314769
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia	OMIM:618426
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar...	ORPHA:353281
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:248370
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:466943
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Broad eyebrow, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Overweig...	OMIM:619475
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorchidism, Kyphosis, H...	OMIM:309000
Aspartylglucosaminuria	Macroglossia, Splenomegaly, Abnormal cortical bone morphology, Seizure	ORPHA:93
Spondyloocular Syndrome	Osteopenia, Muscle weakness, Thin bony cortex	OMIM:605822
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
Orofaciodigital Syndrome Iii	Hyperconvex nail, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Postencephalitic Parkinsonism	Kyphosis, Generalized muscle weakness, Camptocormia	ORPHA:97349
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Sparse ey...	OMIM:617011
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, Seizure, Anemia	OMIM:613658
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Ogden Syndrome	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Wide anterior fontanel, I...	OMIM:300855
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Small for gestational age	OMIM:264090
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Highly a...	OMIM:303600
Gaucher Disease Type 1	Pericardial effusion, Kyphosis, Growth delay, Delayed puberty, Abnormal myocardium morphology, Ve...	ORPHA:77259
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Macrocephaly, Se...	ORPHA:293948
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Cowden Syndrome	Short stature, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly	ORPHA:201
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance	ORPHA:90154
Aspartylglucosaminuria	Short stature, Kyphosis, Cerebral atrophy, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis,...	OMIM:208400
Branchiooculofacial Syndrome	Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Postnata...	OMIM:113620
Osteoporosis-Pseudoglioma Syndrome	Short stature, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial ...	OMIM:259770
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex	OMIM:608328
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness	ORPHA:43393
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Hypertriglyceridemia, Slender build, Type II diabetes mellitus	ORPHA:3455
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Viss Syndrome	Right ventricular dilatation, Atrial septal defect, Patent foramen ovale, Long toe, Alopecia, Sho...	OMIM:619472
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Kyphosis, Radial deviation of finger, Thin eyebrow, Clinodactyly	OMIM:609944
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:488627
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Kyphosis, Capitate-hamate fusion, Genu valgum, ...	OMIM:304150
Weill-Marchesani Syndrome 1	Thin bony cortex	OMIM:277600
Hartsfield Syndrome	Bilateral tonic-clonic seizure, Craniosynostosis	OMIM:615465
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birt...	OMIM:166220
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Short clavicles	OMIM:603116
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Pulmonic steno...	OMIM:620185
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Epileptic spasm, Osteoporosis, Seizure, Myoclonus, Bilateral tonic-clonic seizure on ...	ORPHA:438213
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset	OMIM:614947
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atonic seizure, Dysmetria, Gait ata...	OMIM:614756
Doors Syndrome	Bilateral tonic-clonic seizure, Sagittal craniosynostosis, Focal impaired awareness seizure, Myoc...	ORPHA:79500
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Spina bifida, Kyphosis, Clinodactyly of the 5th finger,...	ORPHA:1393
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Yellow nails, Kyphosis, Patent ductus arteriosus, Tetralogy of Fallot,...	OMIM:153400
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis	OMIM:300942
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Short stature, Cryptorchidism, Kyphosis, Hip dislocation, Fine hair, Genu valg...	ORPHA:534
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232220
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem...	ORPHA:100070
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis, Mitral valve prolapse	OMIM:177850
Sotos Syndrome	Astrocytoma, Flexion contracture, Atrial septal defect, Abnormal vertebral morphology, Cryptorchi...	ORPHA:821
Cushing Disease	Increased body weight, Emotional lability, Depression, Truncal obesity, Abdominal obesity, Dement...	ORPHA:96253
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Kyphosis	OMIM:610475
Cowden Syndrome 5	Hydrocele testis, Kyphosis, Scoliosis	OMIM:615108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Neurofibromatosis Type 1	Abnormal hair quantity, Astrocytoma, Short stature, Cryptorchidism, Kyphosis, Genu valgum, Slende...	ORPHA:636
Cowden Syndrome 6	Hydrocele testis, Kyphosis, Scoliosis	OMIM:615109
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Camptodactyly	OMIM:612474
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Classic Homocystinuria	Sparse scalp hair, Arachnodactyly, Kyphosis, Genu valgum, Scoliosis	ORPHA:394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Cowden Syndrome 1	Hydrocele testis, Kyphosis, Scoliosis	OMIM:158350
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoc...	OMIM:620330
Ramon Syndrome	Short stature, Kyphosis, Scoliosis, Decreased body weight, Hypertrichosis	OMIM:266270
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Rett Syndrome, Congenital Variant	Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity, Kyphosis	OMIM:610489
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Tarsal synostosis, Aplastic clavicle, Absent eyelashes, Kyphosis	ORPHA:85199
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232240
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight	OMIM:182210
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty	OMIM:619718
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia	ORPHA:293987
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Increased body weight, Emotional lability, Depression, Weight loss, Truncal obesity, De...	ORPHA:99889
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Alström Syndrome	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Truncal obes...	ORPHA:64
Woodhouse-Sakati Syndrome	Hyperlipidemia, Diabetes mellitus	OMIM:241080
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia	ORPHA:3464
Hellp Syndrome	Increased body weight	ORPHA:244242
Kabuki Syndrome 1	Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Autoimmune thrombocytopenia, S...	OMIM:147920
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Carney Complex	Testicular neoplasm, Increased body weight, Testicular adrenal rest tumor, Oligozoospermia, Abdom...	ORPHA:1359

Histopathology

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

There is no histopathology data for Vcp

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 Vcp.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Vcp^{tm36020(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vcp^{tm292865(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vcp^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Vcp^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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