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Gene: Kbtbd13 MGI:1921742

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Gene Summary

Name:
kelch repeat and BTB (POZ) domain containing 13
Synonyms:
5430433E21Rik

Order Alleles

IMPC Data Collections

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.

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Kbtbd13 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.

The table below shows human diseases associated to Kbtbd13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439

The table below shows human diseases predicted to be associated to Kbtbd13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... OMIM:160800
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... ORPHA:684
Myotonia Congenita, Autosomal Recessive
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mus... OMIM:255700
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:310440
Muscular Dystrophy, Barnes Type
Myopathy, Myotonia, Muscular dystrophy OMIM:158800
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con... OMIM:606072
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi... ORPHA:97240
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture OMIM:601003
Paramyotonia Congenita
Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia ORPHA:371
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo... OMIM:608390
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia, Irregular femoral epiphysis, Genu valgum, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Myotonia OMIM:170400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Distal lower limb amyotrophy, Short third metatarsal, Handgrip myotonia, Myo... ORPHA:324442
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... ORPHA:98855
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mu... ORPHA:209335
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia ORPHA:99736
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... ORPHA:99734
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Hypokalemic Periodic Paralysis
Myotonia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Percu... OMIM:619040
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... ORPHA:98863
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... ORPHA:98853
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... ORPHA:1878
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Myotonia Permanens
Skeletal muscle hypertrophy, Myotonia, Generalized muscle hypertrophy ORPHA:99735
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Thomsen And Becker Disease
Myotonia ORPHA:614
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia, Generalized amyotrophy, Weakness of facial musculature, Type 2 muscl... OMIM:602668
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Metatarsus... ORPHA:3101
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Episodic Ataxia Type 1
Hand clenching, Calf muscle hypertrophy, Myotonia ORPHA:37612
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Myopathy ORPHA:682
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... OMIM:620310
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Facial hypotonia, Obesity, Decreased body weight ORPHA:589821
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... ORPHA:75840
Idiopathic Camptocormia
Myositis, Myotonia, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proxim... ORPHA:1320
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Bowing of the long bones, Shoulder flexion contracture,... OMIM:255800
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Failure to thrive, Nemaline bodies OMIM:618246
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, Myopathy,... OMIM:167320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Myotonic Dystrophy 1
Facial diplegia, Myotonia OMIM:160900
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Obesity, Tapered finger OMIM:309585
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia, Nemaline bodies, Elbow contracture OMIM:620275
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Central Core Disease
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... ORPHA:597
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Summitt Syndrome
Syndactyly, Obesity OMIM:272350
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615983
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly OMIM:300577
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia, 2-3 toe syndactyly ORPHA:391307
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:2141
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia ORPHA:171719
Thyrotoxic Periodic Paralysis
Myotonia, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intra... ORPHA:79102
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia OMIM:614100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Congenital Myopathy 24
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... OMIM:617336
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build... OMIM:254090
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Muscular dystrophy, Distal... ORPHA:459033
Fetal Encasement Syndrome
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth OMIM:613630
Stuve-Wiedemann Syndrome 1
Brachydactyly, Bowing of the long bones, Myotonia, Adducted thumb, Clubbing, Abnormal metaphyseal... OMIM:601559
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Muscle mounding, Skeletal muscle... OMIM:613327
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co... OMIM:161800
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Acrocallosal Syndrome
Tall stature, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb ORPHA:36
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Schwartz-Jampel Syndrome
Hip contracture, Bowing of the long bones, Skeletal muscle atrophy, Myotonia, Shoulder flexion co... ORPHA:800
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Shox-Related Short Stature
Obesity, Tibial bowing, Short foot, Skeletal muscle hypertrophy, Genu valgum, Forearm undergrowth... ORPHA:314795
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... OMIM:601462
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... ORPHA:3210
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... ORPHA:178148
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly OMIM:615984
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... OMIM:248800
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... OMIM:601163
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Facial hypotonia ORPHA:438216
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... ORPHA:169186
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615982
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... ORPHA:99013
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... OMIM:166300
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Disproportionate tall st... ORPHA:3068
Schisis Association
Small for gestational age, Congenital diaphragmatic hernia, Micromelia ORPHA:63862
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Hemihypotrophy of low... ORPHA:412035
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Small hand, 2-3 toe syndactyly, Truncal obesity ORPHA:284180
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... OMIM:618022
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Handgrip myotonia, Myotonia of the upper limb, Abnormality of the tongue... ORPHA:273
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity ORPHA:141333
Bardet-Biedl Syndrome 8
Obesity, Postaxial polydactyly OMIM:615985
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy ORPHA:352447
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
15Q24 Microdeletion Syndrome
Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal... ORPHA:94065
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Arachnodactyly, Decreased body mass index, Congenital diaphragmatic hernia ORPHA:370079
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... OMIM:619574
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Clinodactyly of the 5th finger, Increased body weight, 2-3 toe syndactyly, Tapered finger ORPHA:589905
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Diastasis recti, Large for gestational age ORPHA:254534
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Hypotonia-Cystinuria Syndrome
Failure to thrive, Ragged-red muscle fibers, Facial palsy OMIM:606407
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy ORPHA:369840
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... ORPHA:298
Bardet-Biedl Syndrome 3
Obesity, Postaxial polydactyly, Brachydactyly OMIM:600151
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Non-Syndromic Posterior Hypospadias
Small for gestational age, Congenital diaphragmatic hernia ORPHA:95706
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature ORPHA:85325
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy OMIM:600462
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... ORPHA:300605
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... OMIM:619036
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th... ORPHA:1120
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,... ORPHA:1001
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Postaxial hand polydactyly, Finger syndactyly, Obesity ORPHA:110
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Cutis Laxa, Autosomal Recessive, Type Ia
Overgrowth, Arachnodactyly, Congenital diaphragmatic hernia OMIM:219100
Wilson Disease
Proximal muscle weakness in lower limbs, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Bardet-Biedl Syndrome 6
Syndactyly, Obesity, Postaxial polydactyly OMIM:605231
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Short foot, Increased body weight, Broad hallux, 2-3 toe syndactyly OMIM:300860
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Smith-Magenis Syndrome
Brachydactyly, Increased body weight, Short palm OMIM:182290
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... OMIM:618733
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Matthew-Wood Syndrome
Failure to thrive, Congenital diaphragmatic hernia ORPHA:2470
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... ORPHA:206572
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia ORPHA:63260
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... ORPHA:168572
Seckel Syndrome 9
Small for gestational age, Talipes equinovarus, Congenital diaphragmatic hernia OMIM:616777
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Pelv... ORPHA:79240
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:98914
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Disproportionate tall sta... ORPHA:1900
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build OMIM:603041
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers OMIM:614924
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Halperin-Birk Syndrome
Failure to thrive, Flexion contracture, Talipes equinovarus, Congenital diaphragmatic hernia OMIM:618651
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur... ORPHA:17
Sotos Syndrome
Long metacarpals, Increased body weight, Genu valgum, Long phalanx of finger, Large hands, Overgr... OMIM:117550
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... ORPHA:254892
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Increased body weight, Increased sarcoplasmic glycogen ORPHA:264580
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight, Proximal amyotrophy ORPHA:189427
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Large for gestatio... OMIM:267000
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Pentalogy Of Cantrell
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic... ORPHA:1335
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Small hand, Increased body weight, Short foot, Abdominal obesity, Failure to... ORPHA:398069
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Insulinoma
Increased body weight ORPHA:97279
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Melas
Myopathy, Failure to thrive, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:550
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Increased intramyocellular ... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Ragged-red muscle fibers ORPHA:255210
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight, Proximal amyotrophy ORPHA:96253
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Failure to thrive, Ragged-red muscle fibers OMIM:124000
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,... OMIM:182250
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... OMIM:236680
Choreoacanthocytosis
Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy ORPHA:2388
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Proximal amyotrophy, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature 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 Kbtbd13

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 Kbtbd13.

No publications found that use IMPC mice or data for Kbtbd13.

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

MGI Allele Allele Type Produced
Kbtbd13tm466043(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kbtbd13em1(IMPC)J Intra-exon deletion Mice

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