Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mesenchyme homeobox 2
Synonyms:
Gax,  Mox-2,  Mox2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Meox2 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 Meox2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... OMIM:616199
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... OMIM:618848
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait OMIM:604454
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Distal Myopathy, Welander Type
Rimmed vacuoles, Difficulty walking, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myo... ORPHA:603
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Resti... ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Limb muscle weakness, Narrow mout... OMIM:256030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... ORPHA:596
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance OMIM:616304
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl... OMIM:609524
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Gait a... ORPHA:309169
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Bifid uvula, Waddling gait, Facial diplegia, Type 1 m... ORPHA:169186
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Waddling gait, Talipes equinovarus, Scapular winging,... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Pyloric stenosis, Upper limb mus... OMIM:616924
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Bifid uvula, Narrow mouth, Hip contracture, Weakness ... OMIM:615959
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... OMIM:609285
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Narrow mouth, Internally nucleated skeletal muscle fi... ORPHA:324581
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tip-toe gait, Tibialis anterior muscle atrophy, Type 1 ... OMIM:160500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Inability to walk, Gait ataxia, Enamel hypoplasia... OMIM:617915
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Intrinsic hand muscle atrophy... ORPHA:399086
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Limb ataxia... OMIM:248800
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Oculopharyngeal Muscular Dystrophy 1
Gait disturbance, Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Dental malocclusion, Limb muscle wea... OMIM:617258
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Triceps weakness, ... OMIM:619574
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ragged-red muscle fibers, Ataxia, Dystonia, Athetosis OMIM:615159
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Talipes equinovarus, Mus... OMIM:614399
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Loss of a... OMIM:619518
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... OMIM:610099
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid drople... OMIM:619065
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Loss of ambulation, Facial ... OMIM:603511
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... OMIM:616052
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Multiple joint contractures, Abnormal muscle fiber myotili... ORPHA:98911
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Int... OMIM:620285
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... OMIM:619903
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, High palate, Flexion contract... OMIM:616470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Talipes equinovarus, Scapular winging, High pa... OMIM:617336
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Neonatal death, Adduct... OMIM:619334
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, High palate, Myopathy, Neonatal death OMIM:300219
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Myasthenic Syndrome, Congenital, 12
Waddling gait, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han... ORPHA:536516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Multiple joint contra... OMIM:128100
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Motheaten musc... OMIM:226670
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predominance, Ragge... ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing, Tremor OMIM:304700
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Broad... OMIM:607459
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Open mouth, Myopathy OMIM:616816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Abnorma... ORPHA:171881
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... OMIM:620011
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Ataxia OMIM:125250
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ... OMIM:254090
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:618242
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Ataxia, Dystonia, Chore... OMIM:618416
Native American Myopathy
Bifid uvula, Congenital contracture, Skeletal muscle atrophy, Downturned corners of mouth, Inabil... ORPHA:168572
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Difficulty walking, Ragged-red muscle fibers, Lingual dystonia OMIM:500003
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo... ORPHA:171436
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Talipes eq... OMIM:151800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Li... OMIM:258450
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Wide mouth, Incre... OMIM:617228
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Abnormality of the dentition OMIM:613752
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Broad-based gait, Clino... OMIM:181405
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Facial diplegia, Foot dorsiflexor weak... ORPHA:329478
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Neonatal death OMIM:614096
Spinocerebellar Ataxia 28
Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Dystonia, Lower limb hypertonia OMIM:610246
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Bethlem Muscular Dystrophy
Difficulty walking, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps mu... ORPHA:610
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... OMIM:500009
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Muscle fiber atrophy, Myo... ORPHA:369840
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Long philtrum, Axial dystonia, High palate, Flexi... OMIM:619026
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, High palate, In... ORPHA:254864
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy ORPHA:263494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Ragged... OMIM:616479
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Talipes... ORPHA:597
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Ragged-red muscle fibers OMIM:619024
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, A... ORPHA:254886
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Gait ataxia, Gait disturbance, Hypomimic face, Dystonia, Titu... ORPHA:225147
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Tip-toe g... ORPHA:300605
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, High palate, Flexion con... ORPHA:178148
Arthrogryposis, Distal, Type 3
Bifid uvula, Decreased muscle mass, Camptodactyly of finger, Ulnar deviation of the hand or of fi... OMIM:114300
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Dysdiadochokinesis, Difficulty walking, Tremor, W... ORPHA:502423
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Nar... OMIM:616866
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Gait apraxia, Ataxia,... OMIM:617302
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Opisthotonus, Gait dis... ORPHA:216866
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly, Facial hypotonia OMIM:614526
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent fingertip pads,... OMIM:618529
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Abnormality of the dentition, Short distal phalanx of finger, Broad thumb, Dental malo... OMIM:616331
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mu... ORPHA:52430
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin... OMIM:612949
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Toe syndactyly, Downturned corners of mouth, Lobulated tongue, Post... OMIM:620107
Multiple Epiphyseal Dysplasia, Lowry Type
Rhizomelia, Genu valgum, Knee flexion contracture, Fibular hypoplasia, Brachydactyly, Cleft hard ... ORPHA:166016
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h... OMIM:216300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou... ORPHA:3201
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology, Gonadal dysgenesis, Abnor... ORPHA:168563
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Facial palsy, Waddling gait OMIM:602541
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Thin upper lip vermilion, Increased variability in muscle fiber diameter, Type 2 muscle fiber pre... OMIM:619173
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty wa... OMIM:164310
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Difficulty walking, Rhab... OMIM:255125
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High... OMIM:618779
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Short ... ORPHA:2712
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Falls, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, F... OMIM:618106
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Overlapping fingers... OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, High palate, Limb dystonia, Myopathy OMIM:604377
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Huntington Disease-Like 1
Gait disturbance, Gait ataxia, Abnormal posturing, Dysmetria ORPHA:157941
Leydig Cell Hypoplasia
Male hypogonadism, Delayed skeletal maturation, Hypoplasia of the Leydig cells, Abnormal external... ORPHA:755
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Advanced eruption of teeth, Myopathy, Skeletal muscle ... ORPHA:2348
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Difficulty walking, Distal upper limb amyotroph... ORPHA:600
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Talipes equinovarus, Thick vermilio... ORPHA:250999
Sandifer Syndrome
Hiatus hernia, Esophagitis, Abnormal posturing, Torticollis ORPHA:71272
Loeys-Dietz Syndrome 5
Bifid uvula, Bilateral coxa valga, Decreased muscle mass, Cleft soft palate, Tented upper lip ver... OMIM:615582
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Long philtrum, Short toe, Ol... ORPHA:2756
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Tented upper lip vermilion, Tr... OMIM:619424
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Downturned corners of mouth, Tremor, Submucous cleft hard palate, Thin upper lip ve... OMIM:619680
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Gait ataxia, Ragged-red muscle fibers, Intestinal... ORPHA:70595
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Abnormal palate morphology, Tracheoesophageal fistula, Abnormal muscle f... ORPHA:3068
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Submucous cleft hard palate, Hypoplasia ... ORPHA:2804
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, High palate, Facial palsy OMIM:616720
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Hypoplasia... OMIM:609441
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Cleft... OMIM:613150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Cleft soft palate, Type 1 muscle fiber predominance, Myopathy, Talipes e... OMIM:614557
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... ORPHA:2671
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... ORPHA:899
Amish Lethal Microcephaly
Cleft soft palate, Limb hypertonia ORPHA:99742
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Aplasia/hyp... ORPHA:3320
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har... OMIM:617412
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Submucous cleft hard palate, Contracture of the proximal interphalangeal joint of ... ORPHA:457279
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content OMIM:232800
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, High palate, U-Shaped upper lip ve... OMIM:620450
Vici Syndrome
Everted upper lip vermilion, Long philtrum, Cleft upper lip, Abnormal posturing, Median cleft pal... OMIM:242840
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Ataxia, High, narrow palate, Downturned corners of ... OMIM:619950
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip, Scapular winging OMIM:619122
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Cleft Soft Palate
Cleft soft palate OMIM:119570
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Clinodactyly of the 5th finger, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... OMIM:618280
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Stippled calcification proximal humeral epiphyses, Submucous cleft hard palate, Hip c... OMIM:222765
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Myhre Syndrome
Bifid uvula, Gingival cleft, Unilateral cleft lip, Abnormal lip morphology, Narrow mouth, Submuco... ORPHA:2588
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Coarse metaphyseal trabecularization, Delayed eruption of teeth... ORPHA:2780
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Finger syndactyly, Long philtrum, Camptodactyly of finger, Sandal g... ORPHA:178303
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Submucous cleft hard palate, Posta... ORPHA:2189
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Genu valgum, Cleft soft palate, Abnormal metaph... ORPHA:93316
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Craniosynostosis 2
Triphalangeal thumb, Cleft soft palate, Brachydactyly, Supernumerary tooth OMIM:604757
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Buratti-Harel Syndrome
Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cleft hard palate... OMIM:619314
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Generalized limb muscle atrophy, Submucous cleft hard palate, Dystonia, Flexion... OMIM:618891
Mucopolysaccharidosis, Type Ix
Bifid uvula, Finger joint hypermobility, Submucous cleft hard palate OMIM:601492
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Congenital diaphr... OMIM:301022
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Elbow flexion con... OMIM:117650
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Submucous cleft hard palate OMIM:619239
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Narrow mouth, Submucous cleft hard palat... OMIM:164220
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi... ORPHA:3109
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Cree Impaired Intellectual Development Syndrome
Cutaneous finger syndactyly, Cleft soft palate, Rocker bottom foot OMIM:606851
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Anteriorly placed anus,... OMIM:612863
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... OMIM:300967
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... ORPHA:2461
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, Submucous cleft ... OMIM:108300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th finger, Microglossia, Exaggerated median tongue furrow, ... OMIM:608670
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Rectal atresia, Anal atresi... ORPHA:2753
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Polymyositis
Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Finger syndactyly, Widely spaced teeth, Abnormal dental... ORPHA:1071
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Toe syndactyly, Oligodactyly, Submucous cleft soft palate, Hypodontia, Cl... ORPHA:69085
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Diastasis recti, Abnormal reproductive sys... ORPHA:1521
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Narrow m... OMIM:300990
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Elbow flexion contracture, Hypoplasia of the capital femoral epip... OMIM:619194
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate, Adducted thumb ORPHA:293725
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Cleft soft palate, Narrow mouth, Hip contracture, High palate, Esophageal varix... OMIM:619503
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft pa... OMIM:619103
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Finger syndactyly, Abnormal dental enamel morphology, Abnormal ... ORPHA:2658
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced teeth, Cleft soft pa... ORPHA:268261
Diamond-Blackfan Anemia
Cleft lip, Absent thumb, Abnormality of the thenar eminence, Short thumb, Cleft soft palate, Part... ORPHA:124
Desmosterolosis
Bifid uvula, Micromelia, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Metat... ORPHA:35107
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt... OMIM:619321
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Delayed skeletal maturation, Bifid scrotum, Bil... ORPHA:90793
Tolchin-Le Caignec Syndrome
Diastasis recti, Narrow mouth, Submucous cleft hard palate, Arachnodactyly, Clinodactyly of the 5... OMIM:618971
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... ORPHA:2879
Meckel Syndrome 14
Postaxial foot polydactyly, Decreased calvarial ossification, Bowing of the long bones, Aplasia o... OMIM:619879
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate OMIM:609166
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Submucous cleft hard pa... OMIM:115150
Meier-Gorlin Syndrome 5
Clinodactyly, Long philtrum, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiph... OMIM:613805
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Small hand, Toe syndactyly, Delayed eruption of teet... ORPHA:235
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Aplasia of the vagina, Joint hypermobility, Postaxial polydactyly, Aplasia of the u... ORPHA:457284
Microphthalmia, Syndromic 2
Hand clenching, Contracture of the proximal interphalangeal joint of the 2nd toe, Talipes equinov... OMIM:300166
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Camptodactyly of finger, Narrow mouth, Patellar aplasia, Submuc... ORPHA:2554
Campomelic Dysplasia
Carious teeth, Shortening of all phalanges of fingers, Contracture of the distal interphalangeal ... OMIM:114290
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Holt-Oram Syndrome
Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, Hypoplasia of deltoid ... OMIM:142900
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly... ORPHA:1299
Zttk Syndrome
Bifid uvula, Abnormality of the dentition, Small hand, Downturned corners of mouth, Narrow mouth,... OMIM:617140
Thyrotoxic Periodic Paralysis
Lower limb muscle weakness, Tremor, Rhabdomyolysis, Increased intramyocellular lipid droplets, Ab... ORPHA:79102
Viss Syndrome
High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga... OMIM:619472
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera... OMIM:301068
Dubowitz Syndrome
Carious teeth, Delayed eruption of teeth, Velopharyngeal insufficiency, Agenesis of permanent tee... OMIM:223370
Acromelic Frontonasal Dysostosis
Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd... OMIM:603671
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Narrow mouth, Action tremor, Ataxia, Downturned corners of mouth, Thin upper lip ver... ORPHA:3455
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Broad-based gait, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndac... ORPHA:261537
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Mowat-Wilson Syndrome
Tooth malposition, Broad-based gait, Genu valgum, Open mouth, Everted lower lip vermilion, Ataxia... ORPHA:2152
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Fibular aplasia, Humeroradial synostosis, Cryptorchidism, Elbow ank... OMIM:276820
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Cleft palate, Pierre-Robin... OMIM:192430
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Skeletal muscle atrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, ... ORPHA:284339
Cardiofaciocutaneous Syndrome
Long philtrum, Genu valgum, Submucous cleft hard palate, Abnormal morphology of ulna, High palate ORPHA:1340
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus, Vertebr... OMIM:271520
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Broad-based gait, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Syndac... ORPHA:261552
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Complete atriovent... OMIM:236680
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Restrictive Dermopathy 1
Natal tooth, Narrow mouth, Submucous cleft hard palate, Neonatal death, Osteolytic defects of the... OMIM:275210
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Broad distal phalanx of finger, Bifid femur, Micromelia, Aplasia/hypoplasia of the f... ORPHA:2636
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Prominent fingertip pads, Widely spaced teeth, Tibial t... OMIM:619539
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atr... OMIM:107480
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Hypermobility of interphalangeal joints, Uterine rupture, Cystocele, Metacar... OMIM:130050
Holoprosencephaly 13, X-Linked
Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary median maxilla... OMIM:301043
Wolf-Hirschhorn Syndrome
Precocious puberty, Pseudoepiphyses of the metacarpals, Short thumb, Delayed skeletal maturation,... OMIM:194190
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... OMIM:256520
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Prominent fingertip pads, Delayed skeletal maturation, Sandal gap, Tetralog... OMIM:135900
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uteru... OMIM:614527
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Velopharyngeal insufficiency, Short thumb, Submucous cleft hard pala... OMIM:619325
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Neoplasm of the tongue, Clinod... ORPHA:3047
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Bifid uvula, Cleft upper lip, Camptodactyly of finger, Long philtrum, Submucous... OMIM:607872
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Generalized m... OMIM:235730
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Restrictive Dermopathy
Microcolon, Natal tooth, Camptodactyly of finger, Narrow mouth, Multiple joint contractures, Subm... ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Absent thumb, Downturned corners of mouth, Submucous cleft soft palate, Arachnodacty... ORPHA:500150
Loeys-Dietz Syndrome
Uterine rupture, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Craniosynostosis ORPHA:60030
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Fanconi Anemia, Complementation Group L
Absent thumb, Aplasia of the uterus, Absent radius, Micropenis, Bilateral talipes equinovarus OMIM:614083
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle... OMIM:157170
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B... ORPHA:322
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Small hand, Postaxial foot polydactyly, Congenital diaphrag... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Mitral valve prolaps... ORPHA:286
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology ORPHA:391665
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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 Meox2

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 Meox2.

No publications found that use IMPC mice or data for Meox2.

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