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:
N/A

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
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Difficulty... ORPHA:609
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Difficult... ORPHA:603
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Narrow mouth, Waddling gait, Sk... OMIM:256030
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, T... OMIM:618823
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connectiv... ORPHA:266
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Resting tremor, Ataxia,... ORPHA:401768
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Rimmed vacuo... ORPHA:34516
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, High palate, Flexion contracture, Centrally nucle... OMIM:255200
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, High palate, Centrally nucleated skeletal muscle fibers, Type 1 m... ORPHA:169186
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Benign Samaritan Congenital Myopathy
Narrow mouth, Lethargy, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal... ORPHA:324581
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Muscle fiber inclusion bodies,... ORPHA:399058
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Waddling gait, Rimme... OMIM:616924
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Difficulty walking, Split hand, Weak... ORPHA:399086
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Calf muscle pseudohypertrophy, Waddling gait, Redu... ORPHA:280333
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:618484
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Nemaline Myopathy 6
Myopathy, Gait disturbance, Nemaline bodies, Limb muscle weakness OMIM:609273
Myopathy, Distal, 1
Gait disturbance, High palate, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature,... OMIM:160500
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Toe walking, Lower limb musc... OMIM:254130
Marinesco-Sjogren Syndrome
Gait ataxia, Short metatarsal, Limb ataxia, Flexion contracture, Centrally nucleated skeletal mus... OMIM:248800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Loss of ability to walk, Centrally nucleated skeletal mus... OMIM:616812
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
High palate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Nemaline Myopathy 7
Gait disturbance, Nemaline bodies, Myofibrillar myopathy, High palate, Minicore myopathy OMIM:610687
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, High palate, Nemaline bodies, Waddling gait, Facial palsy, Talipes equinovarus OMIM:617336
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Myopathy, Muscle fiber splitting OMIM:618129
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle muscle weakness, ... OMIM:603689
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Myopathy, Distal, 3
EMG: myopathic abnormalities, Split hand, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Waddling gait, High palate, Ragged-red muscle fibers, Limb... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Waddling gait, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fibe... OMIM:619065
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, W... ORPHA:97240
8p23.1 deletion syndrome
Cryptorchidism, Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia,... DECIPHER:39
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Difficulty walking, Flexion contracture, Tongue atrophy, Increa... OMIM:617114
Distal Myotilinopathy
EMG: myopathic abnormalities, Difficulty walking, Loss of ability to walk in first decade, Abnorm... ORPHA:98911
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Waddling gait, High pala... OMIM:605637
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Ca... OMIM:619110
Distal Nebulin Myopathy
EMG: myopathic abnormalities, High palate, Weakness of the intrinsic hand muscles, Nemaline bodie... ORPHA:399103
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Split hand, High palate, Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, H... OMIM:607684
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Difficulty walking, Centrally nucleated skeletal muscle fibers, Typ... ORPHA:169189
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, High palate, Increased variabil... OMIM:616470
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia, Neonatal death, Nemaline bodies, Adducted thumb, In... OMIM:619334
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, T... ORPHA:536516
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Laing Early-Onset Distal Myopathy
Talipes cavus equinovarus, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of o... ORPHA:59135
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Pelvic girdle muscle atrophy, Gait di... OMIM:167320
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Waddling gait... ORPHA:34515
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Nemaline bodies,... OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle musc... OMIM:613818
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Gait disturbance, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Difficulty walking, Muscle fiber tubular inclusions, Ragged-red muscle fibers, ... ORPHA:353327
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Open mouth, Increased variability in muscle fiber diameter OMIM:616816
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy... OMIM:609560
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Bradykinesia, Generalized amyotrophy, Fac... OMIM:258450
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Long philtrum, Arthrogryposis multiplex congenita, Difficulty walki... ORPHA:171433
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, High palate, Flexion contracture, Type... OMIM:254090
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Cap Myopathy
Abnormal muscle fiber morphology, Toe walking, Lower limb muscle weakness, Generalized amyotrophy... ORPHA:171881
Typical Nemaline Myopathy
Genu valgum, Arthrogryposis multiplex congenita, Facial diplegia, Gait disturbance, Flexion contr... ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia, Cleft palate OMIM:615350
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Dysmetria, Type 2 muscle fiber predominance OMIM:619028
Native American Myopathy
Inability to walk, Arthrogryposis multiplex congenita, Downturned corners of mouth, Camptodactyly... ORPHA:168572
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Type 1 muscle fiber predominance, Shou... ORPHA:98902
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, High, narrow palate, Cleft palate, High palate, Myopathy, Vel... OMIM:201550
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Cardiomyopathy, Dilated, 1R
Left ventricular noncompaction, Restrictive cardiomyopathy, Dilated cardiomyopathy, Left ventricu... OMIM:613424
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Flexion contracture, Limitation of joint mobility, Congenital di... ORPHA:171719
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Type 1 muscle fiber predominanc... ORPHA:424107
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Myopathy, Fatty replacement of ... ORPHA:397744
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Ataxia OMIM:612016
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Hi... ORPHA:1145
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Muscular dystrophy, Limb-girdle muscular dystrophy, Waddling ... ORPHA:369840
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Muscular dystrophy, Interphalangeal joi... ORPHA:610
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, High p... ORPHA:254864
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Flexion contracture, Aplasia of ... OMIM:618658
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Scapular muscle atrophy, Peroneal muscle atrophy, Amyoplasia, Progressive dista... OMIM:181405
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Long philtrum, Axial dystonia, Drooling, Flexion contracture, High palate, Increased variability ... OMIM:619026
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Ataxia, Action tremor, Bradykin... ORPHA:254886
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Difficulty... ORPHA:329478
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Tremor, Increased muscle glycogen content, Incr... ORPHA:502423
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Rhabdomyolysis, Resting tremor, Bradykinesia, Facial p... OMIM:157640
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Hypomimic face, Drooling, Gait disturbance, Resting tr... ORPHA:225147
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormality of the tongue, Abnormal posturing, Gait disturbance, Toe walking, ... ORPHA:216866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Myopathy, Increased muscle lipid content OMIM:610717
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Velopharyngeal insufficiency OMIM:617732
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Delayed eruption of teeth, Short phalanx of fing... OMIM:612350
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Waddling gait, Rimmed vacuoles, Fatty repla... ORPHA:52430
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Bifid uvula, Cleft palate OMIM:618768
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Temple Syndrome
Short philtrum, Flexion contracture, Cleft palate, Clinodactyly, Small hand, Short foot, Bifid uv... OMIM:616222
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Ragged-red muscle fibers OMIM:619024
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Broad thumb, Drooling, Smooth philtrum, Abnormality of the dentition, Thin upper l... ORPHA:576283
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid distal ... ORPHA:2669
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Contractures of the joints of the upper limbs, Diffi... ORPHA:300605
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:601494
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed skeletal maturation OMIM:618117
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Decreased muscle mass, Thick lower lip vermilion, Dental crowding, Hyperextensibi... OMIM:309583
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Tremor, Difficulty walking, Ataxia, Autophagic vacuoles, Distal amy... OMIM:164310
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus, Delayed skeletal maturation OMIM:614842
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Moebius Syndrome
Dysdiadochokinesis, Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Gait... OMIM:157900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Short phalanx of finger, High palate, Wide mouth, Ataxia, Bifid uvula, Short femora... OMIM:266920
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... OMIM:256200
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Dental crowding, Mesomelia, Abnormality of the dentition, Short dista... OMIM:616331
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased muscle mass, Short phalanx... OMIM:114300
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia, Bradykinesia, Cleft palate OMIM:614924
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Ataxia, Abnormal mitoch... OMIM:252011
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Titubation, Dysmetria, Skeletal muscle atrophy ORPHA:98771
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Cardiocranial Syndrome, Pfeiffer Type
Cutaneous syndactyly of toes, Small hypothenar eminence, Plantar flexion contractures, High, narr... ORPHA:2872
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Narrow mouth, Flexion contracture, D... OMIM:616866
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Thin upper lip vermilion, Long philtrum, Type 2 muscle fiber predominance, Increased variability ... OMIM:619173
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dystonia OMIM:304700
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Hypomimic face, 2-3 toe syndactyly, Cleft up... OMIM:608572
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic ataxia, Ataxia, ... OMIM:614487
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Accessory oral f... ORPHA:2919
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Delayed skeletal maturation OMIM:617690
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Facial diplegia, Truncal ataxia, Drooling, Downturned corners of m... OMIM:619121
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the uterus, Streak o... ORPHA:168563
Spastic Paraplegia Type 7
Lower limb hypertonia, Lower limb muscle weakness, Spastic gait, Ragged-red muscle fibers, Attent... ORPHA:99013
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Advanced eruption of teeth, Abnormality of skeletal muscle... ORPHA:2348
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Hypodontia, Torticollis, Unsteady gait, Distal amyotrophy, T... ORPHA:397946
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Progressive gait ataxia, Intestinal pseudo-obstruction, Muscle fiber necrosis, Ragged-red muscle ... OMIM:607459
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Preaxial hand polydactyly, Postaxial hand polydactyly, Broad th... OMIM:175700
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Facial hypotonia, Esophageal atresia, Smooth philtrum, Cleft soft palate, Brachydactyly OMIM:614526
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, High palate, Flexion contracture, Villous atrophy, Clinodacty... OMIM:601110
Left Ventricular Noncompaction 1
Ventricular septal defect, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular... OMIM:604169
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Hypodo... ORPHA:3201
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Dysmetria ORPHA:157941
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Testicular gonadoblastoma, Ambi... ORPHA:755
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Difficulty walking, Shoulde... ORPHA:600
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cri-Du-Chat Syndrome
Diastasis recti, Short philtrum, Short metatarsal, Downturned corners of mouth, Difficulty walkin... OMIM:123450
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Arachnodactyly, Long fingers OMIM:604841
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Difficulty walking, Fiber type grouping, Thenar muscle atrophy, Dista... OMIM:500013
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Gait ataxia, Increased variability in mu... ORPHA:70595
Oculofaciocardiodental Syndrome
Genu valgum, Oligodontia, Long philtrum, Delayed eruption of teeth, Radioulnar synostosis, Tooth ... ORPHA:2712
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Abnormal palate morphology, Facial palsy, Skeletal muscle atrop... ORPHA:3068
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Cleft upper lip, Cleft palate, Bifid uvula, Broad-based gait OMIM:300958
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Thin vermilion border, Arthrogryposis multiplex congenita, Short philtrum, De... OMIM:618622
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Coffin-Siris Syndrome 11
Downturned corners of mouth, Esophageal atresia, Wide mouth, Small hand, Bifid uvula, High palate... OMIM:618779
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Cleft uppe... OMIM:613150
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Gait disturbance, Ataxia ORPHA:1349
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
1Q41Q42 Microdeletion Syndrome
Thick vermilion border, Congenital diaphragmatic hernia, Cleft palate, Talipes equinovarus, Submu... ORPHA:250999
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Sandifer Syndrome
Hiatus hernia, Torticollis, Esophagitis, Abnormal posturing ORPHA:71272
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Abnormality of the mouth, Abnormality of the philtrum, Muscul... ORPHA:2671
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Amish Lethal Microcephaly
Cleft soft palate, Limb hypertonia ORPHA:99742
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Bifid uvula, Submucous cleft hard palate, Hyperactivity OMIM:619239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Gait disturbance, Limb muscle weakness OMIM:609286
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Camptodactyly, Agenesis of maxillary central incisor,... OMIM:311450
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Oligodactyly, Long philtrum, Tarsal synostosis, Ac... ORPHA:2756
Loeys-Dietz Syndrome 5
Hiatus hernia, Scapular winging, Decreased muscle mass, Congenital finger flexion contractures, H... OMIM:615582
Vici Syndrome
Abnormal posturing, Left ventricular hypertrophy, Cleft upper lip, Cleft palate, Myopathy OMIM:242840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Short femur, Increased intramyocellular lipid droplets, Polydactyly, Flexion contractur... ORPHA:17
W Syndrome
Radial bowing, Camptodactyly, Agenesis of maxillary central incisor, Hypoplasia of the ulna, Uppe... ORPHA:2804
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Cleft palate, Clinodactyly, Small hand, Short foot, Bifid uvula, Hi... ORPHA:96184
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Prominent finge... OMIM:617412
Schilbach-Rott Syndrome
Narrow mouth, 3-4 finger cutaneous syndactyly, Clinodactyly, Bifid uvula, 2-3 toe cutaneous synda... OMIM:164220
Walker-Warburg Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:899
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Brachydactyly OMIM:612938
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Toe walking... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Toe walking... ORPHA:98914
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Pierre-Robin sequence, Rhabdomyolysis, Cleft palate OMIM:614921
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Submucous cleft lip... ORPHA:96170
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Long philtrum, Downturned corners of mouth, Deep philtrum, 2-3 to... ORPHA:404440
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Myopathy, Cleft soft palate, Skeletal muscle atrophy OMIM:614557
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Congenital muscu... ORPHA:457279
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Coarse metaphyseal trabecularization, Bifid uvula, Facial palsy, Cleft... ORPHA:2780
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Myhre Syndrome
Thin vermilion border, Narrow mouth, Skeletal muscle hypertrophy, Gingival cleft, Unilateral clef... ORPHA:2588
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Syndactyly, Cleft upper lip, Cleft p... OMIM:129400
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Craniosynostosis 2
Cleft soft palate, Triphalangeal thumb, Brachydactyly, Supernumerary tooth OMIM:604757
Progeria-Short Stature-Pigmented Nevi Syndrome
Fragile teeth, Short distal phalanx of finger, Hypodontia, Multiple joint contractures, Selective... ORPHA:2959
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Meckel Syndrome 12
Bifid uvula, Rocker bottom foot, Arthrogryposis multiplex congenita OMIM:616258
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Scapular winging, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Small intestinal dysmotility, Atro... ORPHA:298
Buratti-Harel Syndrome
Broad thumb, Broad hallux, Bifid uvula, High palate, Clinodactyly of the 5th finger, Velopharynge... OMIM:619314
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Dens... OMIM:263540
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Tremor, Short philtrum, Toe syndactyly, Overlapping toe, Downturned corners o... OMIM:601808
Loeys-Dietz Syndrome 4
Talipes equinovarus, Torticollis, Broad uvula, Bifid uvula, High palate, High, narrow palate, Ara... OMIM:614816
Hydrolethalus
Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Unilateral cleft lip, Cl... ORPHA:2189
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Unsteady gait, Wrist flexion contracture, Knee flexion contracture,... OMIM:618733
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Short phalanx of finger, Flared femoral metaphysis, Limb undergrowth, Sand... ORPHA:1427
Temple Syndrome
Bifid uvula, Small hand, Clinodactyly of the 5th finger, Short foot ORPHA:254516
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Radioulnar synostosis, Narrow mouth,... ORPHA:2461
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Snakebite Envenomation
Gingival bleeding, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Bifid tongue, Supernumerary tooth, Postaxial foot pol... OMIM:258850
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Long philtrum, Finger syndactyly, Abnormality of the dentition, Sandal g... ORPHA:178303
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Ataxia OMIM:607426
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, High palate, Anal stenosis, ... OMIM:300373
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Macroglossia, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, A... ORPHA:258
Cree Mental Retardation Syndrome
Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate OMIM:606851
Hyperphosphatasia-Intellectual Disability Syndrome
Shortening of all distal phalanges of the fingers, Short philtrum, Downturned corners of mouth, G... ORPHA:247262
Diamond-Blackfan Anemia 6
Cleft palate, Cleft upper lip, Short thumb, Bifid uvula, Triphalangeal thumb OMIM:612561
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the vagina OMIM:158330
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Aplasia/Hypoplasia of the distal phalanges of the toes, Posteriorly placed... OMIM:192445
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Dysdiadochokinesis, Dystonia, Flexion contracture, Submucous cleft hard palate, Generalized limb ... OMIM:618891
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Stickler Syndrome, Type I
Pierre-Robin sequence, Abnormality of femoral epiphysis, Cleft palate, Bifid uvula, Arachnodactyl... OMIM:108300
Frontometaphyseal Dysplasia 2
Dislocated radial head, Short philtrum, Decreased muscle mass, Short metatarsal, Finger clinodact... OMIM:617137
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Malabsorption, Intestinal perforation OMIM:603041
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Type 1 muscle fiber atrophy, Macroglossia, Open bite, Open mouth, Downturned c... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Type 1 muscle fiber atrophy, Macroglossia, Open bite, Open mouth, Downturned c... ORPHA:352665
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Narrow palate, Tapered toe, Increased muscle lipid content, Long toe, Knee flexion cont... OMIM:608836
Polymyositis
Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Frontometaphyseal Dysplasia
Oligodontia, Broad thumb, Short metatarsal, Short phalanx of finger, Short distal phalanx of fing... ORPHA:1826
Desbuquois Dysplasia 2
Metaphyseal widening, Long philtrum, Broad thumb, Short phalanx of finger, Dental crowding, Hypod... OMIM:615777
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Ataxia ORPHA:1020
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Tremor, Lethargy, Gait ataxia, Hypomimic face, Ragged-red muscle fi... ORPHA:254892
Branchiootorenal Syndrome 1
Intestinal malrotation, Facial palsy, Increased overbite, Cleft palate, Bifid uvula, High palate,... OMIM:113650
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Esophageal varix, Skeletal muscle atrophy,... ORPHA:367
Megalocornea-Mental Retardation Syndrome
Genu valgum, Long philtrum, Ataxia, Bifid uvula, High palate, Arachnodactyly OMIM:249310
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Abnormality of the dentition, Skeletal muscle atrophy, Bifid uvula OMIM:615802
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Delayed calcaneal ossification, Coxa vara, Waddling gait, Cleft palate, Bi... OMIM:183900
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Orofaciodigital Syndrome Type 4
Split hand, Aplasia/Hypoplasia of the tibia, Oral cleft, Rectovaginal fistula, High, narrow palat... ORPHA:2753
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Genu valgum, Hypoplasia of the tooth germ, Broad thumb, Overlapping toe, Contracture of the proxi... ORPHA:293967
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia OMIM:530000
Cerebrocostomandibular Syndrome
Long philtrum, Anal stenosis, Abnormality of the dentition, Short humerus, Anteriorly placed anus... OMIM:117650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Short philtrum, Narrow mouth, Open mouth, Dental crowding, Widely spaced teeth, Drooling,... OMIM:300967
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Short phalanx of finger, Narrow mouth, Pierre-Robin sequence, Cleft low... OMIM:268305
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Impaired tandem gait, Talipes eq... ORPHA:1900
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles OMIM:606070
15Q Overgrowth Syndrome
Overlapping toe, Dental crowding, Large hands, Abnormal finger flexion creases, Smooth philtrum, ... ORPHA:314585
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Atrial septal defect, Bifid scrotum, Ventr... OMIM:618280
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Delayed eruption of teeth, Short femur, Narrow mouth, Dental crow... OMIM:300990
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft lip, Thick lower lip vermilion, Unilateral cleft palate, Attention d... OMIM:619103
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Prader-Willi Syndrome Due To Translocation
Carious teeth, Overlapping toe, Downturned corners of mouth, Clinodactyly of the 4th finger, Ever... ORPHA:177907
Birk-Barel Syndrome
Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, High palate OMIM:612292
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Small hand, Short foot, Bifid uvula, Short palm OMIM:241410
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Diastasis recti, Craniosynostosis, Unilateral hypoplasia of pectoralis major muscle... ORPHA:1521
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Diastasis recti, Anal stenosis, Smooth philtrum, Thin upper lip vermilion, Short l... OMIM:145410
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Abnormality of finger, Finger syndactyly, Wide mouth, Symphala... ORPHA:2658
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Orofaciodigital Syndrome Type 3
Postaxial hand polydactyly, Hamartoma of tongue, Abnormality of the dentition, Irregular dentitio... ORPHA:2752
Limb-Mammary Syndrome
Oligodactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Submucous cleft soft palate, Hypod... ORPHA:69085
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Postaxial polydactyly, Smooth philtrum, Abnormality of the dentition, Cleft palate... OMIM:300968
Apert Syndrome
Delayed eruption of teeth, Toe syndactyly, Broad thumb, Narrow palate, Finger syndactyly, Esophag... ORPHA:87
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Preaxial hand polydactyly, Postaxial hand pol... OMIM:101200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Radioulnar synostosis, Narrow mouth, Phalangeal dislocation, Bowing of th... OMIM:130070
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Oligodontia, Downturned corners of mouth, Open mouth, Furrowed tongue, Cleft palate... ORPHA:453499
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Aplasia of the uterus, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, ... ORPHA:90793
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Finger syndactyly, Submucous cleft ... ORPHA:1071
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Cryptorchidism, Aplasia of the uterus, Midshaft hypospadias, Urogenital sinus anoma... ORPHA:168558
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Broad distal phalanx of finger, Macroglossia, Deep philtrum, Wide mouth, Submucous c... OMIM:619194
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Cryptorchidism, Aplasia of the uterus, Midshaft hypospadias, Urogenital sinus anoma... ORPHA:289548
Trisomy 8P
Short fifth metatarsal, Clinodactyly of hallux, Thin vermilion border, Malrotation of small bowel... ORPHA:264450
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Ataxia OMIM:124000
Thyrotoxic Periodic Paralysis
Tremor, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb m... ORPHA:79102
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Adducted thumb, Smooth philtrum ORPHA:293725
Blackfan-Diamond Anemia
Lethargy, Adenocarcinoma of the colon, Partial duplication of thumb phalanx, Cleft lip, Short thu... ORPHA:124
Camptodactyly Syndrome, Guadalajara, Type I
Scapular winging, Short metatarsal, Toe syndactyly, Narrow mouth, Downturned corners of mouth, Hi... OMIM:211910
Desmosterolosis
Narrow mouth, Intestinal malrotation, Submucous cleft hard palate, Metatarsus adductus, Cleft pal... ORPHA:35107
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Meester-Loeys Syndrome
Bifid uvula, Camptodactyly, Flexion contracture OMIM:300989
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Narrow mouth, Thick vermilion border, Cleft palate, Patellar aplasia, Bi... ORPHA:2554
Dubowitz Syndrome
Delayed eruption of teeth, Broad thumb, Toe syndactyly, Anal stenosis, Wide mouth, Submucous clef... ORPHA:235
Tolchin-Le Caignec Syndrome
Diastasis recti, Narrow mouth, High palate, Clinodactyly of the 5th finger, Arachnodactyly, Submu... OMIM:618971
Zttk Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Downturned corners of mouth, Flexion contrac... OMIM:617140
Choreoacanthocytosis
Peroneal muscle atrophy, Blepharospasm, Head titubation, Resting tremor, Bradykinesia, Lingual dy... ORPHA:2388
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Upper limb per... ORPHA:1299
Semilobar Holoprosencephaly
Inability to walk, Lethargy, Flexion contracture, Solitary median maxillary central incisor, Limb... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Lethargy, Flexion contracture, Solitary median maxillary central incisor, Limb... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Lethargy, Flexion contracture, Solitary median maxillary central incisor, Limb... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Lethargy, Flexion contracture, Solitary median maxillary central incisor, Limb... ORPHA:93924
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Fused cervical vertebrae, Aplasia of the... ORPHA:3320
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Syndactyly, Hyperactivity,... OMIM:223370
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Vertebral fusion, Block vertebrae, Aplasia of the ut... OMIM:271520
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity ... OMIM:619227
Singleton-Merten Syndrome 1
Genu valgum, Carious teeth, Expanded metacarpals with widened medullary cavities, Tendon rupture,... OMIM:182250
Microphthalmia, Syndromic 2
Oligodontia, Sandal gap, Contracture of the proximal interphalangeal joint of the 3rd toe, Fused ... OMIM:300166
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Polydactyly, Widely spaced teeth, Gait disturbance, 2-4 toe cutaneous syndact... ORPHA:268261
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Cleft palate ORPHA:3426
Cardiofaciocutaneous Syndrome 1
Open bite, Open mouth, Deep philtrum, Abnormality of the dentition, Hyperextensibility of the fin... OMIM:115150
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Short ph... ORPHA:3310
Melas
Ragged-red muscle fibers, Gait disturbance, Ataxia, Abnormal mitochondria in muscle tissue, Intes... ORPHA:550
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Downturned corners of mouth, Flexion contracture, Intestinal malrotation, Smooth phi... OMIM:619321
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Skele... ORPHA:284339
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Facial hypotonia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Vertebral fusion, Persistent cloaca,... ORPHA:94095
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina OMIM:146255
Baller-Gerold Syndrome
Hypoplasia of the radius, Narrow mouth, Perineal fistula, Aphalangy of the hands, Short humerus, ... OMIM:218600
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Thick lower lip vermilion, Ana... OMIM:211380
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Cleft palate OMIM:617660
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Septate vagina, Vaginal atresia, Uterus didelphys, Aplasia of the uterus ORPHA:2237
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Wide mouth, Smooth ... OMIM:607812
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Dystonia, Gait ataxia, Ataxia ORPHA:255210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Open mouth, Dental crowding, Camptodactyly, Long toe, Hallux valgus, Genu valgum, Abnormality of ... ORPHA:261537
Mowat-Wilson Syndrome
Open mouth, Dental crowding, Camptodactyly, Pyloric stenosis, Long toe, Hallux valgus, Genu valgu... ORPHA:2152
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Triangular mouth, Bifid uvula, High pal... OMIM:617506
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Cleft palate, Bifid uvula, Submucous c... ORPHA:2250
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Holoprosencephaly 3
Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Cleft palate OMIM:142945
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Carious teeth, Abnormal thumb morphology, Toe syndac... ORPHA:2363
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Downturned corners of mouth, Natal tooth, Long toe, Thin long bone diaphyses, Short... ORPHA:3455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Broad distal phalanx of finger, Abnormality of finger, Micromelia, Large hands, Submucous cleft h... ORPHA:2636
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Shoulder muscle hypoplasia, Ventricular septal defect, Carpal synostosis, T... OMIM:274000
Velocardiofacial Syndrome
Open mouth, Pierre-Robin sequence, Cleft palate, Velopharyngeal insufficiency, Submucous cleft ha... OMIM:192430
Treacher Collins Syndrome 1
Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate, Cleft soft palate OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Open mouth, Dental crowding, Camptodactyly, Long toe, Hallux valgus, Genu valgum, Abnormality of ... ORPHA:261552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Accelerated skeletal maturation, Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Prema... ORPHA:90794
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:184705
Restrictive Dermopathy, Lethal
Rocker bottom foot, Narrow mouth, Stillbirth, Flexion contracture, Natal tooth, Submucous cleft h... OMIM:275210
Loeys-Dietz Syndrome 1
Postaxial hand polydactyly, Camptodactyly, Cleft palate, Bifid uvula, Talipes equinovarus, Arachn... OMIM:609192
Cardiofaciocutaneous Syndrome
Genu valgum, Long philtrum, Abnormality of the ulna, High palate, Submucous cleft hard palate ORPHA:1340
Trichohepatoenteric Syndrome 1
Long philtrum, Narrow mouth, Villous atrophy, Wide mouth, Bifid uvula OMIM:222470
Pallister-Killian Syndrome
Short phalanx of finger, Intestinal malrotation, Congenital diaphragmatic hernia, Long philtrum, ... OMIM:601803
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Duodenal atresia, Cleft palate, M... OMIM:301043
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Neoplasm of the tongue, Bifid uvula, Clinodactyly of the 5th finger, Sub... ORPHA:3047
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Loeys-Dietz Syndrome
Camptodactyly of finger, Oral cleft, Bifid uvula, High palate, Arachnodactyly ORPHA:60030
Holoprosencephaly 2
Solitary median maxillary central incisor, Median cleft lip and palate, Bifid uvula, Submucous cl... OMIM:157170
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Joint hypermobility, Cryptorchidism, Finger joint hypermobility, Hypermobili... OMIM:130050
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Abnormality of salivation, Abnormal uvula morp... ORPHA:100050
Ring Chromosome 7 Syndrome
3-4 toe syndactyly, Genu valgum, Thin vermilion border, Short philtrum, Narrow mouth, Median clef... ORPHA:1449
Pallister-Hall Syndrome
Broad thumb, Natal tooth, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal bones, Postax... ORPHA:672
Hydrolethalus Syndrome 1
Bifid uterus, Agenesis of the diaphragm, Abnormal vagina morphology, Ventricular septal defect, C... OMIM:236680
Loeys-Dietz Syndrome 2
Camptodactyly, Postaxial polydactyly, Cleft palate, Syndactyly, Joint contracture of the hand, Ab... OMIM:610168
Van Esch-O'Driscoll Syndrome
Bifid uvula OMIM:301030
Phocomelia, Schinzel Type
Cryptorchidism, Humeroradial synostosis, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Mowat-Wilson Syndrome
Delayed eruption of teeth, Tooth malposition, Drooling, Aganglionic megacolon, Abnormality of ent... OMIM:235730
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Osteoarthritis of the small joints of the hand, Left ventricular hypertr... ORPHA:284984
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Charge Syndrome
Delayed eruption of teeth, Abnormality of tibia morphology, Narrow mouth, Abnormal soft palate mo... ORPHA:138
Digeorge Syndrome
Short philtrum, Cleft palate, Bifid uvula, High palate, High, narrow palate, Attention deficit hy... OMIM:188400
Coffin-Siris Syndrome 12
Broad thumb, Radioulnar synostosis, Facial palsy, Slender finger, Short thumb, Cutaneous syndacty... OMIM:619325
Coffin-Siris Syndrome 1
Cryptorchidism, Aplasia of the uterus, Atrial septal defect, Joint laxity, Ventricular septal def... OMIM:135900
Okamoto Syndrome
Joint hypermobility, Bifid uterus, Ventricular septal defect, Abnormal mitral valve morphology, A... ORPHA:2729
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Long philtrum, Camptodactyly, High palate, Brachydactyly, Oral cleft, Me... OMIM:607872
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Decreased muscle mass, Atrial septal defect, Radioulnar sy... OMIM:194190
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Ventricular septal defect, Camptodactyly, Joint contracture of the ... OMIM:256520
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Ventricular septal defect, Urethral valve, Rectoperi... OMIM:107480
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100
Restrictive Dermopathy
Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow mouth, Natal tooth, Multiple ... ORPHA:1662
Frontofacionasal Dysplasia
Oral cleft, Bifid uvula, Cleft upper lip OMIM:229400
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Abnormal heart morphology, Penoscrotal transposition... ORPHA:322
Rubinstein-Taybi Syndrome 1
Joint hypermobility, Bifid uterus, Atrial septal defect, Cryptorchidism, Joint laxity, Ventricula... OMIM:180849
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Downturned corners of mouth, Submucous cleft soft palate, ... ORPHA:500150
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Humeroradial synostosis, Decreased calvarial ossification, Scrotal hypoplasia, El... OMIM:276820
Loeys-Dietz Syndrome 3
Talipes equinovarus, Camptodactyly, Left ventricular hypertrophy, Cleft palate, Bifid uvula, High... OMIM:613795
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Talipes equinovarus OMIM:601374
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Osteolysis, Mitral valve prolapse, Abnormal heart valve morphology, Joint hyperfl... ORPHA:286
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665
Norrie Disease
Cryptorchidism, Uterine rupture 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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