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Gene: Plpp7 MGI:2445183

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phospholipid phosphatase 7 (inactive)
Synonyms:
D830019K17Rik,  Ppapdc3,  NET39

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 Plpp7 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.

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

The table below shows human diseases predicted to be associated to Plpp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nuc... OMIM:618655
Nonaka Myopathy
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... OMIM:605820
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Gait disturbance, Muscle fiber hypertrophy, Skele... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Falls, Muscle fiber necrosis, ... OMIM:618848
Welander Distal Myopathy
Steppage gait, Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Type II diabetes mellitu... OMIM:500002
Distal Myopathy, Welander Type
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... ORPHA:603
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... ORPHA:399058
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... ORPHA:266
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Muscle fibe... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... OMIM:254110
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... OMIM:618940
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Gowers sign, Fasting hypoglycemia, Growth delay, Short s... ORPHA:171706
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle weakness, Waddling gait,... OMIM:612937
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... OMIM:619477
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Muscle weakness, Increased variability in muscle fiber diameter, ... OMIM:619042
Nemaline Myopathy 6
Gait disturbance, Myopathy, Neck flexor weakness, Limb muscle weakness, Nemaline bodies OMIM:609273
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Nemaline Myopathy 7
Gowers sign, Gait disturbance, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficienc... OMIM:610687
Myopathy, Distal, 1
Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Gait disturbance, Fa... OMIM:160500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Gait disturbance, Scapular winging, Abdo... OMIM:618129
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... OMIM:603511
Nemaline Myopathy 2
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... OMIM:256030
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Steppage gait, EMG: m... ORPHA:399086
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Gowers sign, Reduced muscle fiber alpha dystroglycan, Waddling gait, L... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Waddling g... OMIM:605637
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... OMIM:608358
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Calf muscle hy... OMIM:617760
Myopathy, Myofibrillar, 2
Autophagic vacuoles, Respiratory insufficiency due to muscle weakness, Late-onset proximal muscle... OMIM:608810
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... OMIM:603689
Nemaline Myopathy 4
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Waddling gait, Diffi... OMIM:609285
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... OMIM:300717
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... OMIM:615424
Myopathy, Distal, 3
Steppage gait, Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic... OMIM:610099
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Short stature ORPHA:366
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Neck flexor weakness, Respiratory insufficiency due to ... ORPHA:171442
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... ORPHA:353
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Proximal muscle weakness, Fatigable weakness OMIM:614750
Vacuolar Neuromyopathy
Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... OMIM:601846
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Hypoglycemia, Short stature, Ataxia, Postnatal growth retardation OMIM:616113
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... OMIM:616924
Myasthenic Syndrome, Congenital, 14
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Waddling gait, Flexion contracture, Sc... OMIM:616228
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, X-Linked, With Postural Muscle Atrophy
Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness, Flexion contracture, Scapula... OMIM:300696
Glycogen Storage Disease Ixb
Muscle weakness, Short stature, Increased muscle glycogen content OMIM:261750
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf muscle hypoplasi... ORPHA:488650
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, D... OMIM:610717
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... OMIM:253601
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... ORPHA:353327
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Bethlem Myopathy 2
Proximal muscle weakness, Myopathy, Muscle weakness, Increased variability in muscle fiber diamet... OMIM:616471
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Left v... ORPHA:86812
Merrf
Ataxia, Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Muscle weakness, Increased endomysial connective t... OMIM:617072
Myofibrillar Myopathy 11
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... OMIM:619178
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Difficulty walking OMIM:500003
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... ORPHA:270
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Myopathy, Gait disturbance, Minicore myopathy, Respiratory insufficienc... ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... OMIM:613818
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Proximal muscle weakness, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder g... ORPHA:34515
Nemaline Myopathy 1
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... OMIM:609284
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Hypoglycemia, Severe postnatal growth retardation, Short stature OMIM:262700
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... OMIM:613530
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Short stature, Delayed puberty ORPHA:314802
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Facial palsy, Waddling gait, Scapular winging, Nemaline bodies OMIM:617336
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Inc... ORPHA:119
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Short stature, Muscle weakness, Rhabdomyolysis, Lethargy OMIM:618120
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Gait disturbance, Dystonia, Li... OMIM:167320
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... OMIM:609560
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... OMIM:160565
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... OMIM:255200
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Short stature, Respiratory insufficiency due to muscle weakness, Facial palsy, Type 1 f... OMIM:300580
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Growth delay, Short stature, Delayed puberty ORPHA:314811
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Muscle we... OMIM:613954
Isolated Growth Hormone Deficiency, Type Ia
Pituitary dwarfism, Hypoglycemia, Severe short stature OMIM:262400
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Absent muscle dystrophin expression, Abnormality of the shoulder girdle... ORPHA:206546
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Generalized amyotrophy, EM... ORPHA:75840
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... ORPHA:681
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Short stature, Increased intramyocellular lipid droplets, Ataxia, Increased variability... OMIM:619065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... OMIM:617070
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Proximal muscle weakness, Dystonia, Ataxia, Ophthalmoplegi... ORPHA:401768
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, Muscle weakness,... OMIM:607855
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... OMIM:300718
Nemaline Myopathy 3
Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Respiratory insufficiency d... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Skel... OMIM:300816
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Dpm3-Cdg
Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscle weakness, Calf muscle ... ORPHA:263494
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... OMIM:608930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Steppag... OMIM:258450
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... OMIM:618823
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... OMIM:602771
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... ORPHA:98905
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Limb-girdle muscular dyst... OMIM:616052
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Facial palsy, Nemaline bodies, Flexion contracture, Distal amyotrophy, Hypotrophy ... OMIM:607684
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance ORPHA:972
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... ORPHA:352479
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... OMIM:603034
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Glycogen Storage Disease Iii
Myopathy, Hypoglycemia, Short stature, Muscle weakness, Distal amyotrophy OMIM:232400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, Mitochondrial swelling, E... ORPHA:397744
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Short stature, Increa... OMIM:252011
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Limb... ORPHA:369840
Carnitine Deficiency, Systemic Primary
Myopathy, Hypoglycemia, Recurrent hypoglycemia, Reduced muscle carnitine level, Muscle weakness, ... OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Short stature, Neonatal hypoglycemia, Diastasis recti, Postnatal growth retardation ORPHA:231140
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... ORPHA:596
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness, Generalized muscle weakness, I... OMIM:601462
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... ORPHA:486815
Myopathy, Congenital, With Fiber-Type Disproportion
Proximal muscle weakness, Limb joint contracture, Respiratory insufficiency due to muscle weaknes... OMIM:255310
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Gowers sign, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Progre... OMIM:181405
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Gait disturbance, Myopathy, Neck flexor weakness, F... ORPHA:171436
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... ORPHA:171881
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... OMIM:615422
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Intrauterine growth retardation, Ketotic hypoglycemia, Lethargy ORPHA:26792
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... ORPHA:206559
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Neck flexor we... ORPHA:98913
Nemaline Myopathy 8
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... OMIM:615348
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Short stature, Dysmetria, Acute rhabdomyolysis, At... ORPHA:48431
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ataxia, Ophthalmoplegia, Increased variability in muscle fiber diameter OMIM:125250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Proximal muscle weakness, Skeletal muscle atrophy, Limb muscle weakness, Loss of ability to walk,... OMIM:616812
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Gowers sign, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Respira... OMIM:608931
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... ORPHA:600
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Salih Myopathy
Myopathy, Facial palsy, Generalized muscle weakness, Calf muscle hypertrophy, Flexion contracture... OMIM:611705
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Increased intramyocellular lipid droplets, Ataxia OMIM:612016
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Respiratory insuf... ORPHA:597
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... ORPHA:254886
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... OMIM:605809
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Muscle weakness... ORPHA:254864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Inability to walk, Ataxia, Muscle we... OMIM:615350
Autosomal Recessive Centronuclear Myopathy
Gowers sign, Hip contracture, Facial diplegia, Progressive muscle weakness, Generalized amyotroph... ORPHA:169186
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, ... OMIM:254210
Kearns-Sayre Syndrome
Ataxia, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Glycerol Kinase Deficiency
Myopathy, Hypoglycemia, Growth delay, Short stature, Muscular dystrophy, Lethargy OMIM:307030
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nuc... OMIM:255160
Classic Multiminicore Myopathy
Poor head control, Increased muscle lipid content, Weakness of facial musculature, Short stature,... ORPHA:324604
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Generalized muscle... ORPHA:276608
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Inability to walk, Gait ata... OMIM:300148
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... ORPHA:324575
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Glycogen Storage Disease Ixa1
Hypoglycemia, Growth delay OMIM:306000
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, Skeletal ... OMIM:619518
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Generalized amyotrophy... OMIM:617519
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Ri... ORPHA:52430
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... OMIM:617066
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy, Lethargy OMIM:610006
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Gowers sign, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle f... OMIM:253700
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Spastic gait, Attention deficit hyperactivity disorder, Abnormal mitoch... ORPHA:99013
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic hypoglycemia,... ORPHA:276580
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, A... OMIM:248800
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamete... OMIM:619334
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Dystonia, Hypoglycemia, Limb hypertonia, Skeletal muscle atrophy, Intrauterine growth ... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... ORPHA:57
Ullrich Congenital Muscular Dystrophy 1
Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Respiratory insufficiency due ... OMIM:254090
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Proximal muscle weakness, Dystonia, Arm dystonia, ... ORPHA:300605
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98855
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Hypoglycemia,... ORPHA:42
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... OMIM:617258
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Weakness of facial musculature, Arthrogryposis multiplex congenita, Flexion contract... OMIM:618484
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Skeletal muscle atrophy, Dysmetria, Increased intramyocellular lipid droplets, Spastic ... OMIM:614487
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Poor head control, Hypoglycemia, Skeletal muscle atrophy, Intrauterine growth retardation, Growth... OMIM:245400
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Fiber type grouping, Distal lower limb amyotrophy, Interosseus muscle ... OMIM:500013
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Ataxia, Type 2 muscle fiber predominance, Impaired tandem gait OMIM:619028
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoglycemia, Ataxi... ORPHA:453533
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Muscle weakness, Proximal muscle wea... OMIM:615352
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Gait disturbance, Ragged-red muscle fibers, Progressive external ophtha... OMIM:609286
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98853
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Intrauterine growth retardation, Hypoglycemia OMIM:619048
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Diabetes mellitus ORPHA:181393
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness, Increased variabili... OMIM:616867
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content OMIM:611556
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Dysmetria, Muscle weakness, Inability to walk, Dysdiadochokinesis, A... OMIM:617675
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Gowers sign, Proximal muscle weakness, Growth delay, Weakness of facial musculature, Short statur... ORPHA:502423
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Ophthalmoplegia, Diabetes mellitus OMIM:540000
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Dystonia, Hypoglycemia, Lethargy OMIM:246900
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ophthalmoparesi... ORPHA:1349
Mitochondrial Myopathy With Lactic Acidosis
Gowers sign, Dystonia, Proximal muscle weakness, Growth delay, Dysmetria, Muscle weakness, Postna... OMIM:251950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Limb mus... OMIM:157640
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, First dorsal interossei muscle weakness, Impaired tandem gait, Intrinsic hand m... OMIM:619574
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Hip contracture, Intra... ORPHA:319514
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Short stature, Insulin-resistant diabetes mellitus, Diabetic ... OMIM:262190
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Neutral Lipid Storage Myopathy
Gowers sign, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness... ORPHA:98908
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Cog8-Cdg
Hypoglycemia, Poor head control, Skeletal muscle atrophy, Ataxia ORPHA:95428
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Lethargy ORPHA:324581
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Weakness of facial musc... ORPHA:352447
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Immune-Mediated Necrotizing Myopathy
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... ORPHA:206569
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... ORPHA:169189
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Axial dystonia, External ophthalmoplegia, Increased variability in muscle fiber dia... OMIM:619026
Congenital Myasthenic Syndrome
Proximal muscle weakness, Poor head control, Ataxia, Arthrogryposis multiplex congenita, EMG: myo... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Poor head control, Ataxia, Arthrogryposis multiplex congenita, EMG: myo... ORPHA:98914
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... ORPHA:73272
Myotonic Dystrophy 2
Oligospermia, Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Insuli... OMIM:602668
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Bradykinesia, Ragged-red muscle fibers, Ophthalmoplegia OMIM:614924
Oculopharyngodistal Myopathy 1
Proximal muscle weakness, External ophthalmoplegia, Autophagic vacuoles, Respiratory insufficienc... OMIM:164310
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Neck flexor weakness, Increased mitochondrial number, EMG: myopathic abnor... ORPHA:263297
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Skeletal myopathy, Progressive distal muscle weakness, Generalized musc... ORPHA:746
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Reactive hypogly... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Hypoglycemia, Short stature, Ataxia, Distal muscle weakness OMIM:256810
King-Denborough Syndrome
Proximal muscle weakness, Minicore myopathy, Weakness of facial musculature, Short stature, Muscl... OMIM:619542
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Type I diabetes me... ORPHA:276575
Synaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... ORPHA:98915
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia OMIM:614702
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... OMIM:615418
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Skeletal muscle atrophy, Lethargy ORPHA:156
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal muscle weakness, Poor head control, Skeletal muscle atrophy, Hypoglycemia, Increased int... ORPHA:26791
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Muscle weakness, Rhabdomyolysis, Lethargy OMIM:212138
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Intrauterine growth retardation, Hypoglycemia, Severe postnatal growth retardation, Proportionate... ORPHA:391408
Mental Retardation, Autosomal Dominant 35
Hypoglycemia, Congenital muscular torticollis, Facial hypotonia OMIM:616355
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Short stature, Muscle weakness, A... OMIM:530000
Classic Galactosemia
Gait disturbance, Dystonia, Hypoglycemia, Gait imbalance, Ataxia, Attention deficit hyperactivity... ORPHA:79239
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Progres... OMIM:607459
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Short stature, Prog... ORPHA:79240
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabetes, Skeletal muscle hypertrop... ORPHA:79083
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Native American Myopathy
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Short stature, Arthrogryposis... ORPHA:168572
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Postnatal growth retardation, Hypoglycemia, Short stature ORPHA:231137
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Insulinoma
Hyperinsulinemic hypoglycemia, Generalized muscle weakness, Fasting hyperinsulinemia, Reactive hy... ORPHA:97279
Combined Oxidative Phosphorylation Defect Type 39
Poor head control, Limb hypertonia, Intrauterine growth retardation, Neonatal hypoglycemia, Loss ... ORPHA:565624
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypoglycemia, Ataxia, Muscle weakness, Rhabdomyolysis OMIM:124000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hypoglycemia, Delayed puberty, Short stature ORPHA:369
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hypoglycemia OMIM:617156
Dilated Cardiomyopathy With Ataxia
Dystonia, Intrauterine growth retardation, Growth delay, Generalized amyotrophy, Neonatal hypogly... ORPHA:66634
Donohue Syndrome
Fasting hypoglycemia, Skeletal muscle atrophy, Intrauterine growth retardation, Hyperglycemia, Po... OMIM:246200
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Shoulder girdle muscle weakness, Rimmed vacuole... OMIM:606070
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ophth... ORPHA:171430
Combined Malonic And Methylmalonic Acidemia
Dystonia, Hypoglycemia ORPHA:289504
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait disturbance, Dystonia, Hypoglycemia, Acute rhabdomyolysis, Gait ataxia, Muscle weakness, Ata... OMIM:616878
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Facial palsy, Ophthalmo... ORPHA:3068
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Poor head control, Limb hypertonia, Intrauterine growth retardation, Dysmetria, Genera... ORPHA:572798
Genetic Recurrent Myoglobinuria
Viral infection-induced rhabdomyolysis, Type 2 muscle fiber atrophy, Myositis, Abnormality of jaw... ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Isolated Complex I Deficiency
Poor head control, Abnormal mitochondria in muscle tissue, Hypoglycemia, Intrauterine growth reta... ORPHA:2609
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Gait disturbance, Inability to walk, Hypoglycemia OMIM:618241
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Skeletal muscle atrophy, Hypoglycemia, Short stature, Growth delay, Progres... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Skeletal muscle atrophy, Growth delay, Progressive muscle weakness, Increas... ORPHA:370
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy ORPHA:2089
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Ophthalmoparesis, Increased variability in mu... ORPHA:70595
2P21 Microdeletion Syndrome
Hypoglycemia, Growth delay ORPHA:163693
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Insulin resista... ORPHA:2348
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Temple Syndrome
Recurrent hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus, Short stature ORPHA:254516
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Muscle weakness... OMIM:616866
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Rhabdo... ORPHA:368
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Lethargy OMIM:619386
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Muscle weakness, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Glycogen Storage Disease Ixc
Postnatal growth retardation, Fasting hypoglycemia, Hypoglycemia, Growth delay OMIM:613027
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Dystonia, Inability to walk, Hypoglycemia OMIM:614739
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Intrauterine growth retardation, Growth delay, Short stature, Recurrent hypoglycemia, Truncal ata... OMIM:616817
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia OMIM:618253
Hypotonia-Cystinuria Syndrome
Muscle weakness, Facial palsy, Neonatal hypoglycemia OMIM:606407
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Respiratory insufficiency due to muscl... OMIM:619461
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Muscle weakness, Myopathy, Rhabdomyolysis, Hypoketotic hypoglycemia ORPHA:228305
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Hypoketotic hypoglycemia, Generalized muscle weakness, Rhabdomyolysis, Lethargy OMIM:609015
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Muscle weakness, Exercise-induced rhabdomyolysis, Nonketotic hypoglycemia, Lethargy OMIM:201475
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Short stature ORPHA:364
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypoglycemia ORPHA:79096
Silver-Russell Syndrome 2
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:618905
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Short stature, Neonatal hypoglycemia OMIM:262600
Overlap Myositis
Proximal muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper ... ORPHA:206572
Propionic Acidemia
Dystonia, Hypoglycemia, Limb hypertonia, Short stature, Lethargy OMIM:606054
Hsd10 Disease, Infantile Type
Dystonia, Poor head control, Loss of ability to walk, Hypoglycemia ORPHA:391428
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, External ophthalmoplegia, Ophthalmoparesis, Foot... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Smith-Kingsmore Syndrome
Diastasis recti, Rhizomelia, Hypoglycemia OMIM:616638
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Muscle weakness, Rhabdomyolysis, Lethargy ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Hypoglycemia OMIM:220111
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Hypoglycemia, Lethargy ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Muscle weakness, Ataxia, Neonatal hypoglycemia OMIM:619046
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Dystonia, Ragged-red muscle fibers, Skeletal muscle atrophy, Hypogl... ORPHA:17
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Myopathy With Lactic Acidosis, Hereditary
Muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Rhabdomyolysis OMIM:255125
Laron Syndrome
Hypoglycemia, Delayed puberty, Severe short stature ORPHA:633
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ragged-red muscle fibers, Ataxia OMIM:607426
Silver-Russell Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Postnatal growth retardation, Hypoglycemia, Intrauterin... ORPHA:397590
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Propionic Acidemia
Hypoglycemia ORPHA:35
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Myopathy, Ragged-red muscle fibers, External ophthalmoplegia, Limb muscle weakn... ORPHA:254892
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Gait disturbance ORPHA:732
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Ragged-red muscle fibers, Skeletal muscle atrophy, Hypoglycemia, Growth delay,... OMIM:252010
Leigh Syndrome
Athetosis, Dystonia, Myopathy, Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retarda... ORPHA:506
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Diastasis recti, Gait disturbance, Neonatal hypoglycemia ORPHA:457485
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Intrauterine growth retardation, Setting-sun eye phenomenon, Hypogl... OMIM:619355
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities, Generalized muscle weakness, Fatigable weakness, Nonketot... ORPHA:99901
Visceral Steatosis, Congenital
Lethargy, Myocardial steatosis, Hypoglycemia, Neonatal death OMIM:228100
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Poor head control, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Neonatal hypogl... OMIM:619055
Glycogen Storage Disease Vii
Muscle weakness, Increased muscle glycogen content OMIM:232800
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Growth delay, Short stature, Muscle weakness, Rhabdomyolysis, Delayed puberty OMIM:614921
Neuromuscular Oculoauditory Syndrome
Poor head control, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contract... OMIM:618733
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Tenorio Syndrome
Macroglossia, Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Hypoglycemia, Acute rhabdomyolysis, EMG: myopathic abnormalities, Ataxia, Hypoglycemic ... ORPHA:480864
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Short stature OMIM:248360
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Skeletal muscle atrophy, Lethargy OMIM:210210
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Short stature, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities,... ORPHA:98907
Silver-Russell Syndrome
Decreased muscle mass, Intrauterine growth retardation, Short stature, Insulin resistance, Recurr... ORPHA:813
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... ORPHA:79102
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Unsteady ... ORPHA:457279
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal muscle weakness, Progressive external ophthalmoplegia, Distal am... OMIM:603041
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness OMIM:159400
Maple Syrup Urine Disease
Ataxia, Hypoglycemia, Lethargy OMIM:248600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Infantile Liver Failure Syndrome 2
Hypoglycemia, Lethargy OMIM:616483
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypoglycemia, Intrauterine growth retardation OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Hypoglycemia, Intrauterine growth retardation OMIM:618839
Bannayan-Riley-Ruvalcaba Syndrome
Myopathy, Hypoglycemia, Skeletal muscle atrophy, Short stature, Muscle weakness, Abdominal wall m... ORPHA:109
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, P... ORPHA:2020
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Short stature ORPHA:436174
Multiple Acyl-Coa Dehydrogenase Deficiency
Muscle weakness, Neonatal death, Hypoglycemia, Glycosuria OMIM:231680
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Growth delay, Delayed puberty ORPHA:95619
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Intrauterine growth retardation, Skeletal muscle atrophy, Growth delay, Short stature OMIM:608779
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Intrauterine growth retardation, Hyperinsulinemic hypoglycemia, Proport... ORPHA:71212
Mitochondrial Complex I Deficiency, Nuclear Type 20
Muscle weakness, Hypoglycemia OMIM:611126
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness OMIM:619424
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis ORPHA:449285
Mody
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:552
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short stature, Hypoglycemia, Flexion contracture OMIM:618005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased muscle lipid content, Knee flexion contracture, Nonketotic hypoglycemia, Elbow flexion ... OMIM:608836
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Intercostal muscle weakness, Myositis, Macroglossia, Facial palsy, C... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia OMIM:261680
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Severe postnatal growth retardation, Short... ORPHA:769
Nephrotic Syndrome, Type 14
Ataxia, Hypoglycemia OMIM:617575
Timothy Syndrome
Hypoglycemia OMIM:601005
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Lethargy OMIM:201450
Glycogen Storage Disease Ia
Decreased muscle mass, Hypoglycemia, Delayed puberty, Short stature OMIM:232200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Lethargy OMIM:615751
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Idiopathic Camptocormia
Dystonia, Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal musc... ORPHA:1320
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay OMIM:231530
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hypoglycemia OMIM:619075
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Lethargy OMIM:600649
Melas
Gait disturbance, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy, Pro... ORPHA:550
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Lethargy OMIM:210200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Generalize... ORPHA:1900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Increased intra... OMIM:220110
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Carnitine Palmitoyltransferase Ii Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis, Hypoketotic hypoglycemia ORPHA:157
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Lethargy OMIM:255120
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy, Neonatal hypoglycemia OMIM:261740
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Growth delay OMIM:251880
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Growth delay, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Po... ORPHA:2088
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Lethargy OMIM:229700
Oculodentodigital Dysplasia
Gait disturbance, Hypoglycemia, Ataxia, Muscle weakness, Camptodactyly of finger ORPHA:2710
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia ORPHA:79644
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia ORPHA:79237
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Severe intrauterine growth retardation, Decreased muscle mass, Fasting hypoglycemia, Intrauterine... ORPHA:96182
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:367
Glutaric Acidemia I
Dystonia, Hypoglycemia OMIM:231670
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia ORPHA:2126
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Bannayan-Riley-Ruvalcaba syndrome
Myopathy, Postnatal growth retardation, Hypoglycemia OMIM:153480
Late-Onset Isolated Acth Deficiency
Muscle weakness, Hypoglycemia, Type I diabetes mellitus, Lethargy ORPHA:199299
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Delayed puberty, Short stature ORPHA:95496
Beta-Ketothiolase Deficiency
Hyperglycemia, Ataxia, Hypoglycemia ORPHA:134
Cholera
Muscle weakness, Hypoglycemia, Lethargy ORPHA:173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Silver-Russell Syndrome 1
Fasting hypoglycemia, Intrauterine growth retardation OMIM:180860
Menkes Disease
Muscle weakness, Aplasia/Hypoplasia of the abdominal wall musculature, Hypoglycemia, Intrauterine... ORPHA:565
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Hypoketotic hypoglycemia, Lethargy ORPHA:26793
Pyruvate Carboxylase Deficiency
Dystonia, Hypoglycemia, Growth delay, Hyperglycemia, Ataxia, Tip-toe gait ORPHA:3008
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Holoprosencephaly
Dystonia, Hypoglycemia, Congenital diaphragmatic hernia, Muscle weakness, Diabetes mellitus ORPHA:2162
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Diabetes mellitus OMIM:613845
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ragged-red muscle fibers, Ophthalmoparesis, Muscle weakness, Ataxia, Gait ataxia ORPHA:255210
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... ORPHA:565612
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia OMIM:608624
Combined Oxidative Phosphorylation Deficiency 37
Poor head control, Hypoglycemia OMIM:618329
Leprechaunism
Severe intrauterine growth retardation, Fasting hypoglycemia, Skeletal muscle atrophy, Insulin re... ORPHA:508
Mirage Syndrome
Intrauterine growth retardation, Hypoglycemia, Short stature OMIM:617053
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Fasting hypoglycemia, Ataxia, Limb dystonia ORPHA:25
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Growth delay, Weakness of facial musculature, Neonatal hypoglycemia OMIM:619418
Kabuki Syndrome 2
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia OMIM:300867
Shigellosis
Rhabdomyolysis, Hypoglycemia ORPHA:810
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Hypoglycemia, Growth delay, Ataxia, Lethargy ORPHA:79282
Congenital Ptosis
Increased muscle lipid content, Congenital facial diplegia, Ophthalmoplegia, Congenital fibrosis ... ORPHA:91411
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Short stature OMIM:233600
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
3-Methylglutaconic Aciduria Type 7
Growth delay, Neonatal hypoglycemia ORPHA:445038
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Growth delay, Macroglossia, Pituitary dwarfism, Lethargy ORPHA:226307
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia OMIM:600955
Acute Adrenal Insufficiency
Muscle weakness, Hypoglycemia, Delayed puberty ORPHA:95409
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Sheehan Syndrome
Muscle weakness, Hypoglycemia ORPHA:91355
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Nonketotic hypoglycemia, Ataxia, Lethargy ORPHA:20
Glycogen Storage Disease Ib
Hypoglycemia, Delayed puberty, Short stature OMIM:232220
Familial Glucocorticoid Deficiency