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
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... OMIM:605820
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Welander Distal Myopathy
Rimmed vacuoles, Steppage gait, Distal amyotrophy OMIM:604454
Nemaline Myopathy 2
High palate, Inability to walk, Cleft palate, Weakness of facial musculature, Increased variabili... OMIM:256030
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Fat... OMIM:618823
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... ORPHA:266
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Resting tremor, Increased variability in muscle fiber diameter, Difficulty walking, Centr... ORPHA:401768
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
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
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusio... OMIM:609524
Rigid Spine Muscular Dystrophy 1
High palate, Loss of ambulation, Increased endomysial connective tissue, Flexion contracture, Mus... OMIM:602771
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, High palate, Inability to walk, Weakness of facial musculature, ... ORPHA:596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fib... OMIM:500002
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, High palate, Narrow mouth, Talipes equinovarus, Left ventricula... ORPHA:169186
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... OMIM:616812
Myopathy, Centronuclear, 2
High palate, Talipes equinovarus, Flexion contracture, EMG: myopathic abnormalities, Scapular win... OMIM:255200
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
High palate, Loss of ambulation, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-gird... OMIM:255160
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Minicore Myopathy With External Ophthalmoplegia
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:255320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... OMIM:619566
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Talipes equinovarus, Flexi... OMIM:618484
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Oculopharyngodistal Myopathy 4
High palate, Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fib... OMIM:619790
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, Type 1 muscle fiber predomina... OMIM:609285
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Adult-Onset Nemaline Myopathy
High palate, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variab... ORPHA:171442
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Dystonia 31
Leg dystonia, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal posturing, Arm ... OMIM:619565
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal musc... OMIM:618654
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposits immunor... OMIM:254130
Myopathy, Distal, 1
High palate, Amyotrophy of ankle musculature, Tip-toe gait, Toe extensor amyotrophy, Rimmed vacuo... OMIM:160500
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Narrow mouth, Internally nucleated skeletal muscle fi... ORPHA:324581
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... ORPHA:353
Marinesco-Sjogren Syndrome
Ataxia, Coxa valga, Flexion contracture, Limb ataxia, Rimmed vacuoles, Gait ataxia, Centrally nuc... OMIM:248800
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increa... ORPHA:486815
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... OMIM:253700
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Open mouth OMIM:616816
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Myopathy, Congenital, With Fiber-Type Disproportion
High palate, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Limb joint contra... OMIM:255310
Myasthenic Syndrome, Congenital, 14
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Waddling... OMIM:616228
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Myopathy, Myofibrillar, 8
High palate, Nemaline bodies, Dental malocclusion, Scapular winging, Joint contracture of the 5th... OMIM:617258
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... OMIM:167320
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Muscle fiber necrosis, Talipes equinovarus, Cleft palate, EMG: myopathic abnormaliti... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Tremor, Clubbing of fingers, Centrally ... OMIM:619574
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... ORPHA:75840
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Waddling gait OMIM:617760
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscl... OMIM:603511
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, EMG: myopathic abnormalities,... ORPHA:171439
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fiber diameter... OMIM:619065
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
8p23.1 deletion syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... DECIPHER:39
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
King-Denborough Syndrome
High palate, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 musc... OMIM:619542
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... ORPHA:98911
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Nemaline bodies, Ulnar claw, Flexion contracture, Foot dorsiflexor weakness, Distal ... OMIM:607684
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Loss of ambulation, Centrally nuclea... OMIM:619518
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... ORPHA:119
Myopathy, Proximal, With Ophthalmoplegia
High palate, Muscle fiber inclusion bodies, Waddling gait, Scapular winging, Congenital contractu... OMIM:605637
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Talipes equinovarus, Flexion contracture, Z-band st... OMIM:617114
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... OMIM:619903
Distal Nebulin Myopathy
High palate, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot ... ORPHA:399103
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:619110
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Ullrich Congenital Muscular Dystrophy 2
High palate, Flexion contracture, Increased variability in muscle fiber diameter, Congenital musc... OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weakness, Difficu... OMIM:613818
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, High palate, Hypertrophied muscle fibers, Flexion contracture, ... ORPHA:98905
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myopathy OMIM:545000
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Akinesia, Adducted thumb, Increased variability in muscle fiber diameter, Neonat... OMIM:619334
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Ataxia, Spastic gait, Congenital diaphragmatic hernia ORPHA:972
Laing Early-Onset Distal Myopathy
High palate, Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:59135
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Talipes equinovarus, Joint contracture of the hand, Flexion contract... ORPHA:536516
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Nemaline Myopathy 11, Autosomal Recessive
High palate, Nemaline bodies, Talipes equinovarus, Scapular winging, Type 1 muscle fiber predomin... OMIM:617336
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Tongue fasciculations, Skeletal muscle atrophy OMIM:300816
Myotubular Myopathy With Abnormal Genital Development
High palate, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Tremor, Sho... OMIM:605355
Congenital Myasthenic Syndromes With Glycosylation Defect
High palate, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakne... ORPHA:353327
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakne... ORPHA:352479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Muscle fiber necrosis, Ataxia, Dysmetria, Weakness of facial musculature, Scapu... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Talipes equinovarus, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Fo... OMIM:620011
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... ORPHA:598
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Oromandibular dystonia, Inability to walk, Blepharospas... OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Ataxia, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Cleft palate, Muscular dystrophy OMIM:615350
Cap Myopathy
High palate, Abnormal muscle fiber morphology, Tip-toe gait, Increased variability in muscle fibe... ORPHA:171881
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, High, narrow palate, Flexion contracture, EMG: myopathic abnorm... ORPHA:171433
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, High palate, Talipes equinovarus, Flexion contracture, Increa... OMIM:254090
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Tremor, Type 2 muscle fiber predominance, Impaired tandem gait OMIM:619028
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, High palate, Flexion contracture, Increased variability in musc... ORPHA:171436
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Cari... OMIM:226670
Native American Myopathy
High palate, Muscle fiber atrophy, Inability to walk, Talipes equinovarus, Cleft palate, Submucou... ORPHA:168572
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Limb ataxia, Intention tremor, Weakness of facial mu... OMIM:258450
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Difficulty walking, Lingual dystonia, Paroxysmal choreoathetosis OMIM:500003
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Limitation of joint mobility, Congenital diaphragmatic hernia, F... ORPHA:171719
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Broad-based gait, Tal... OMIM:181405
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture OMIM:615368
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... ORPHA:98902
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Inability to walk, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb ... OMIM:609560
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, S... ORPHA:1145
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Difficulty walking, Waddling gait, Limb... ORPHA:369840
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Myopathy, Mitochondrial, And Ataxia
High palate, Ataxia, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Increased var... OMIM:617675
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
High palate, Axial dystonia, Flexion contracture, Increased variability in muscle fiber diameter,... OMIM:619026
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased... ORPHA:254864
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Spinocerebellar Ataxia 28
Limb ataxia, Ragged-red muscle fibers, Gait ataxia, Lower limb hypertonia, Dystonia OMIM:610246
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... OMIM:616867
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... ORPHA:329478
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... ORPHA:597
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Action tremor, Scapular winging, Ragged-red m... ORPHA:254886
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Bifid uvula, Cleft palate OMIM:618768
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Difficulty walking OMIM:619024
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Ataxia, Muscle fiber atrophy, Lower-limb joint contracture, Inability to ... ORPHA:300605
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Joint c... OMIM:612350
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Clin... ORPHA:178148
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Abnor... ORPHA:216866
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Small hand, Short philtrum, Bifid uvula, Clinodac... OMIM:616222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Resting tremor, EMG: myopathic abnormalities, Increased variability in mus... OMIM:157640
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variabilit... OMIM:613327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmetria, EMG: my... ORPHA:502423
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... ORPHA:52430
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... ORPHA:2669
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed skeletal maturation OMIM:618117
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Arthrogryposis, Distal, Type 3
High palate, Overlapping toe, Talipes equinovarus, Cleft palate, Camptodactyly of toe, Camptodact... OMIM:114300
Moebius Syndrome
Facial diplegia, High palate, Talipes equinovarus, Abnormality of the dentition, Dysdiadochokines... OMIM:157900
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Left ventricular noncompaction, Truncal ataxia, Increased intramyoce... OMIM:252011
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Narrow mouth, Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, ... OMIM:616866
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Gait disturbance, Titubation, Gait ataxia, Dystonia, Hypomimic face, Abnormal pos... ORPHA:225147
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Narrow palate, High, narrow palate, Right ventricular hypertrophy, Increased variability in muscl... OMIM:612949
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, High, narrow palate, Slender finger, Cutaneous syndactyly of toes, Bifid uvula, Smal... ORPHA:2872
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Long phi... ORPHA:576283
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia, Cleft palate OMIM:614924
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Thin upper lip vermilion, Increased variability in muscle fiber diameter, Long philtrum, Type 2 m... OMIM:619173
Limb-Mammary Syndrome
Hypodontia, Joint contracture of the hand, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... OMIM:603543
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Delayed skeletal maturation OMIM:617690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Osteopenia, Hypogonadotropic hypogonadism, Decreased testic... OMIM:614837
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Abnormal posturing OMIM:304700
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Malabsorption, Ataxia OMIM:613662
Oculopharyngodistal Myopathy 1
High palate, Ataxia, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in musc... OMIM:164310
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, We... ORPHA:324604
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Tongue fasciculat... OMIM:619461
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, 2-3 toe syndactyly, Dysmetria, Adducted thumb, Short philtrum, Long philtrum, Bi... OMIM:619121
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Brachydactyly, Genu valgum, Cleft hard palate, Rhizomelia, Knee flexion c... ORPHA:166016
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe, Broad hall... OMIM:175700
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Brachydactyly, Broad thumb, Esophageal atresia, Smooth philtrum OMIM:614526
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Thin vermilion border, Short phi... OMIM:608572
Congenital Disorder Of Glycosylation, Type Id
High palate, Talipes equinovarus, Joint contracture of the hand, Flexion contracture, Adducted th... OMIM:601110
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Spastic gait, Upper ... ORPHA:99013
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular ... OMIM:616331
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Advanced eruption of teeth, Myopathy, Abnormality of skeletal muscle... ORPHA:2348
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Arachnodactyly, Bifid uvula, Long fingers, Pierre-Robin sequence OMIM:604841
Huntington Disease-Like 1
Gait disturbance, Gait ataxia, Dysmetria, Abnormal posturing ORPHA:157941
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Difficulty walking, Thenar muscle atrophy, Dista... OMIM:500013
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Flexion cont... ORPHA:2712
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Adducted thumb, Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral clef... OMIM:618622
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... ORPHA:79083
Cri-Du-Chat Syndrome
Diastasis recti, High palate, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Synda... OMIM:123450
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Increased variability in muscle fiber di... ORPHA:70595
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Short femoral... ORPHA:93316
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Abno... ORPHA:3068
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Falls, Protruding tongue, Thick vermilion border, Facia... OMIM:618106
Sandifer Syndrome
Torticollis, Hiatus hernia, Esophagitis, Abnormal posturing ORPHA:71272
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Coffin-Siris Syndrome 11
High palate, Wide mouth, Small hand, Bifid uvula, Downturned corners of mouth, Esophageal atresia... OMIM:618779
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ragged-red muscle fibers, Ataxia ORPHA:1349
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
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Bifid uvula, Camptodactyly, Pos... OMIM:614175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Macroglossia, Skeletal muscle hypertrophy, Cleft palate, Muscular dystrophy, Inc... OMIM:613150
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Broad-based gait, Bifid uvula, Cleft palate OMIM:300958
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia, Cleft palate, Thick vermilion border, Submu... ORPHA:250999
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Anterior op... ORPHA:3473
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers ORPHA:352447
Amish Lethal Microcephaly
Limb hypertonia, Cleft soft palate ORPHA:99742
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Long hallux, Talipes equinovarus, High, narrow palate, Cleft palate, Hyperexten... OMIM:309583
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Short femur, Increased variability in muscle fiber diameter, Short humerus, ... ORPHA:17
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Congenital diaphragmatic hernia, Cleft palate OMIM:606164
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... OMIM:615418
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... ORPHA:2756
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Hemidystonia, Brachydactyly, Tapered finger, Downturned corners of mouth, Tremor, Th... OMIM:619680
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Camptodactyly, Hypopla... OMIM:311450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Gait disturbance OMIM:609286
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Talipes equinovarus, Cleft palate, Eosinophilic infiltration of the e... OMIM:615582
Neu-Laxova Syndrome
Flexion contracture, Cleft palate, Everted lower lip vermilion, Opisthotonus, Muscular dystrophy,... ORPHA:2671
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Small hand, Short philtrum, Bifid uvula, Pyloric stenosi... ORPHA:96184
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Clinodactyly of the 5th finger, Talipes equi... OMIM:268305
Vici Syndrome
Cleft upper lip, Cleft palate, Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Walker-Warburg Syndrome
Cleft palate, Muscular dystrophy, Bifid uvula, Metatarsus valgus, Aplasia/Hypoplasia involving th... ORPHA:899
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Bifid uvula, O... OMIM:617412
Congenital Myasthenic Syndrome
High palate, Ataxia, Muscle fiber atrophy, Tip-toe gait, EMG: myopathic abnormalities, Limb-girdl... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Ataxia, Muscle fiber atrophy, Tip-toe gait, EMG: myopathic abnormalities, Limb-girdl... ORPHA:98914
W Syndrome
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Broad uvula, Clinodactyly, Metatarsus adduc... ORPHA:2804
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Talipes equinovarus, Type 1 muscle fiber predominance, Waddling gait, Myopathy, Skeletal muscle a... OMIM:614557
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... OMIM:200990
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... ORPHA:404440
Emanuel Syndrome
High palate, Multiple joint contractures, Anal atresia, Ectopic anus, Congenital diaphragmatic he... ORPHA:96170
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Long philt... ORPHA:457279
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Coenzyme Q10 Deficiency, Primary, 1
Loss of ambulation, Ataxia, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle... OMIM:607426
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, High, narrow palate, Cleft palate, Delayed eruption of teet... ORPHA:2780
White-Sutton Syndrome
High palate, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion border, Short philtrum... OMIM:616364
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly... OMIM:129400
Myhre Syndrome
Narrow mouth, Cleft palate, Skeletal muscle hypertrophy, Thin vermilion border, Gingival cleft, B... ORPHA:2588
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Lobulate... OMIM:174300
Craniosynostosis 2
Brachydactyly, Triphalangeal thumb, Supernumerary tooth, Cleft soft palate OMIM:604757
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Atrophic muscularis propria, Small intestinal dysmotility... ORPHA:298
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Tented upper lip vermilion OMIM:606407
Mucopolysaccharidosis, Type Ix
Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate OMIM:601492
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Dental malocclusion, Multiple joint contractures, Short distal phalanx of finge... ORPHA:2959
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Buratti-Harel Syndrome
High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Bifid uvula, Broad hal... OMIM:619314
Hydrolethalus
Cleft palate, Gingival cleft, Micromelia, Bifid uvula, Postaxial hand polydactyly, Unilateral cle... ORPHA:2189
Loeys-Dietz Syndrome 4
Torticollis, High palate, Talipes equinovarus, High, narrow palate, Eosinophilic infiltration of ... OMIM:614816
Cardiac-Urogenital Syndrome
Ventricular septal defect, Ambiguous genitalia, Tracheomalacia, Unilateral cryptorchidism, Tetral... OMIM:618280
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Calf muscle hypertrophy... OMIM:618733
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Temple Syndrome
Small hand, Short foot, Clinodactyly of the 5th finger, Bifid uvula ORPHA:254516
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... OMIM:192445
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Macrodontia, Bifid... OMIM:263540
Chromosome 18Q Deletion Syndrome
Cleft upper lip, U-Shaped upper lip vermilion, Broad-based gait, Overlapping toe, Talipes equinov... OMIM:601808
Meckel Syndrome 12
Bifid uvula, Arthrogryposis multiplex congenita, Rocker bottom foot OMIM:616258
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Submucous cleft hard palate OMIM:619239
Otospondylomegaepiphyseal Dysplasia
Tibial bowing, Cleft palate, Glossoptosis, Brachydactyly, Bifid uvula, Short phalanx of finger, F... ORPHA:1427
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis, Gingival bleeding ORPHA:449285
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Ataxia, Cleft palate, Prominent fingertip pads, Eclabion, Limb hypertonia, Short phil... OMIM:619950
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Camptodactyly of finger, Long philtrum, Sandal gap, Finger syndacty... ORPHA:178303
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Ataxia, Shortening of all distal phalanges of the fingers, Short philtrum, Bifid uvu... ORPHA:247262
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Flexion contracture, Dysdiadochokinesis, Generalized limb muscle atrophy, Dysto... OMIM:618891
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Bifid uvula, Clinoda... OMIM:164220
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Skeletal muscle atrophy OMIM:615802
Frontometaphyseal Dysplasia 2
High palate, Hip contracture, Dislocated radial head, Ulnar deviation of the hand, Talipes equino... OMIM:617137
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Frontometaphyseal Dysplasia
Cleft palate, Progressive bowing of long bones, Short distal phalanx of finger, Short distal phal... ORPHA:1826
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Bifid uvula, Triphalangeal thumb, Short thumb OMIM:612561
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Bra... OMIM:612938
Overlap Myositis
Subluxation of the small joints of the hand, Finger swelling, Difficulty walking, Perifascicular ... ORPHA:206572
Polymyositis
Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand polydactyly, Tongue n... OMIM:258850
Marshall Syndrome
Thick upper lip vermilion, Wide tufts of distal phalanges, Clinodactyly of the 5th finger, Macrod... OMIM:154780
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Inability to walk, Macroglossia, Flexion contracture, Absent muscle fiber m... ORPHA:258
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Macroglossia, Cleft ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Tooth agenesis, Inability to walk, High, narrow palate, Macroglossia, Cleft ... ORPHA:352665
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Toe clinodactyly, Hypodontia, Cleft palate, Metaphyseal wi... OMIM:615777
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Anal atresia, Clinodactyly... OMIM:300373
Cree Mental Retardation Syndrome
Cutaneous finger syndactyly, Cleft soft palate, Rocker bottom foot OMIM:606851
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Ataxia ORPHA:1020
Branchiootorenal Syndrome 1
High palate, Cleft palate, Intestinal malrotation, Microdontia, Bifid uvula, Increased overbite, ... OMIM:113650
Neutral Lipid Storage Myopathy
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... ORPHA:98908
Marden-Walker Syndrome
Narrow mouth, Cleft palate, Arachnodactyly, Muscular dystrophy, Camptodactyly of finger, Bifid uv... ORPHA:2461
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Cleft palate, Short philtrum, Micromelia, Perineal fistula, Anal atres... ORPHA:2753
Stickler Syndrome, Type I
Cleft palate, Arachnodactyly, Bifid uvula, Irregular femoral epiphysis, Pierre-Robin sequence, Ab... OMIM:108300
Megalocornea-Mental Retardation Syndrome
High palate, Ataxia, Arachnodactyly, Long philtrum, Bifid uvula, Genu valgum OMIM:249310
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, High, narrow palate, Prominent fingertip pads, Small hand, Long philtrum, Sandal gap... OMIM:612863
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Resting tremor, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:254892
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
15Q Overgrowth Syndrome
High palate, Overlapping toe, Clinodactyly of the 5th finger, High, narrow palate, Abnormal finge... ORPHA:314585
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia OMIM:530000
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Overlapping toe, Hypoplasia of the tooth germ, Bifid uvula, Broad hallux, Genu valgum, Broad thum... ORPHA:293967
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Talipes equinovarus, Cleft palate, Delayed calcaneal ossification, Bifid uvula, Waddli... OMIM:183900
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Talipes equinovarus, High, narrow palate, EMG: myopathic abnormalities, Wri... ORPHA:1900
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Narrow mouth, Ataxia, Synostosis of the proximal phalanx of the thumb with the 1st me... OMIM:300967
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion OMIM:612292
Cerebrocostomandibular Syndrome
High palate, Clinodactyly of the 5th finger, Glossoptosis, Abnormality of the dentition, Short ha... OMIM:117650
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Clinodactyly of the 5th finger, Long upper lip, Cleft palate, Everted lower lip verm... OMIM:608670
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Broad distal phal... OMIM:300990
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Postaxial hand ... ORPHA:2752
Congenital Disorder Of Glycosylation, Type It
Pierre-Robin sequence, Rhabdomyolysis, Bifid uvula, Cleft palate OMIM:614921
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Small hand, Long philtrum, Bifid uvula, Short foot, Short palm OMIM:241410
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Hypodontia, Cleft palate, 3-4 finger cutaneous syndactyly, Submuc... ORPHA:69085
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Ataxia, Cone-shaped epiphyses of the phalanges of the hand, Microdontia,... OMIM:266920
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Diastasis recti, Aplasia/Hypoplasia involving the shoulder musculature, Craniosynostosis, Bifid u... ORPHA:1521
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina, Vertebral fusion ORPHA:3109
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Abnormality of finger, High, narrow palate, Cleft palate, Finger syndactyly, Brachyda... ORPHA:2658
Apert Syndrome
Ectopic anus, Narrow palate, Aplasia/Hypoplasia of the thumb, Cleft palate, Micromelia, Delayed e... ORPHA:87
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Dislocated radial head, Narrow mouth, Talipes equinovarus, Coxa valga, Cleft palate, Flexion cont... OMIM:130070
Sifrim-Hitz-Weiss Syndrome
Gait imbalance, Short femoral neck, Tapered finger, Bifid uvula, Anteriorly placed anus OMIM:617159
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Hypodontia, Cleft palate, Finger syndactyly, Submucous cleft soft... ORPHA:1071
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Alveolar ridge overgrowth, Clinodactyly of the 5th finger, Overlapping t... ORPHA:177907
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Macroglossia, Oligodontia, Bifid uvula, Downturned corners of mouth, F... ORPHA:453499
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Cleft palate, Postaxial polydactyly, Small hand, Abnormality of the dentition, Long... OMIM:300968
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Ataxia OMIM:124000
Desmosterolosis
Narrow mouth, Cleft palate, Intestinal malrotation, Micromelia, Bifid uvula, Metatarsus adductus,... ORPHA:35107
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous c... OMIM:619103
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Wide mouth, Macroglossia, Broad distal phalanx of finger, Microdontia, Hypoplasi... OMIM:619194
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Malabsorption, Allodynia, Distal amyotrophy, Ragged-red muscle fibers, Colonic diverticula, Intes... OMIM:603041
Alg9-Cdg
Torticollis, Wide mouth, Ulnar deviation of the hand, Hypoplasia of the musculature, Talipes equi... ORPHA:79328
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Humeroradial synostosis, Cleft palate, Broad di... OMIM:101200
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... ORPHA:79102
Trisomy 8P
Multiple joint contractures, Short fifth metatarsal, Clinodactyly of the 5th finger, Overlapping ... ORPHA:264450
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Smooth philtrum, Cleft soft palate, Adducted thumb ORPHA:293725
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Short palm, Abnormality of dental eruption, Campt... OMIM:211910
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:1790
Meester-Loeys Syndrome
Bifid uvula, Flexion contracture, Camptodactyly OMIM:300989
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Long philtrum, Delayed eruption of teeth, Bifid uvula, Car... OMIM:607812
Tolchin-Le Caignec Syndrome
Diastasis recti, High palate, Narrow mouth, Clinodactyly of the 5th finger, Arachnodactyly, Submu... OMIM:618971
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Ear-Patella-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Camptodactyly of... ORPHA:2554
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Upp... ORPHA:1299
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Intestinal malrotation, Downturned corners of mouth, Genu valgum, Smooth phi... OMIM:619321
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Submucous cleft hard palate OMIM:609166
Zttk Syndrome
High palate, Narrow mouth, Intestinal atresia, Flexion contracture, Thin vermilion border, Abnorm... OMIM:617140
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Slender finger, Delayed eruption of teeth, Falls, Tapered finger, Esopha... OMIM:619503
Blackfan-Diamond Anemia
High palate, Abnormality of the thenar eminence, Absent thumb, Partial duplication of thumb phala... ORPHA:124
Choreoacanthocytosis
Oromandibular dystonia, Loss of ambulation, Muscle fiber atrophy, Blepharospasm, Laryngeal dyston... ORPHA:2388
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of... ORPHA:3320
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Hyperextensibility o... OMIM:115150
Meier-Gorlin Syndrome 5
Long philtrum, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphysis, Patellar... OMIM:613805
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Block vertebrae, Aplasia of t... OMIM:271520
Semilobar Holoprosencephaly
High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... ORPHA:220386
Alobar Holoprosencephaly
High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... ORPHA:93926
Lobar Holoprosencephaly
High palate, Inability to walk, Cleft palate, Flexion contracture, Bifid uvula, Solitary median m... ORPHA:93924
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Supernumerary tooth, Abnormality of toe, Polydactyly, Tapered finger, P... ORPHA:268261
Campomelic Dysplasia
High palate, Cleft palate, Femoral bowing, Short 1st metacarpal, Carious teeth, Bowing of the lon... OMIM:114290
Dubowitz Syndrome
High palate, Wide mouth, Malabsorption, Clinodactyly of the 5th finger, Abnormality of thumb phal... ORPHA:235
Melas
Ataxia, Gait disturbance, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Intes... ORPHA:550
Popliteal Pterygium Syndrome
Cleft upper lip, Talipes equinovarus, Cleft palate, Bifid uvula, Lower lip pit, Fibrous syngnathi... OMIM:119500
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Ataxia, Gait ataxia, Dystonia ORPHA:255210
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Cleft palate, Submucous cleft hard palate ORPHA:3426
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Narrow mouth, Bifid uvula, Unilateral facial palsy, Tapered finger, Exaggerated cupi... OMIM:619480
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Impacted tooth, Long philtrum, Delayed eru... OMIM:211380
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Facial hypotonia, Joint hypermobility ORPHA:457284
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... ORPHA:565612
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Aplasia of the vagina, Septate vagina OMIM:146255
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Singleton-Merten Syndrome 1
Eruption failure, Muscle fiber atrophy, Expanded metacarpals with widened medullary cavities, Ten... OMIM:182250
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Abnormal heart morphology ORPHA:2237
Baller-Gerold Syndrome
High palate, Anal atresia, Narrow mouth, Carpal synostosis, Cleft palate, Hypoplasia of the radiu... OMIM:218600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Cleft palate, Short philtrum, Delayed eruption of teeth, Pyloric stenosis, Bro... ORPHA:261537
Dubowitz Syndrome
High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Agenesis of permanent ... OMIM:223370
Mowat-Wilson Syndrome
Ataxia, Inability to walk, Cleft palate, Delayed eruption of teeth, Tapered finger, Pyloric steno... ORPHA:2152
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula OMIM:300472
Tetrasomy 9P
High palate, Small toe, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal number of p... ORPHA:3310
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... ORPHA:2250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Triangular mouth, Long philtrum, Bifid uvula, Deep philtrum, Widely spaced teeth, Th... OMIM:617506
Meckel Syndrome 14
Aplasia of the uterus, Single ventricle, Decreased calvarial ossification, Ambiguous genitalia OMIM:619879
Wiedemann-Rautenstrauch Syndrome
Ataxia, Abnormality of the dentition, Limb hypertonia, Short philtrum, Truncal ataxia, Tremor, Ac... ORPHA:3455
Holoprosencephaly 3
Cleft lip, Solitary median maxillary central incisor, Bifid uvula, Cleft palate OMIM:142945
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Increased intramyocellular lipid droplets, Ragged-red muscle fibers, Tongue fasciculation... OMIM:252010
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Submucous cleft hard palate OMIM:619227
Lacrimoauriculodentodigital Syndrome
Hypodontia, Absent thumb, Finger syndactyly, Hypoplasia of the radius, Abnormality of the dentiti... ORPHA:2363
Viss Syndrome
High palate, Chronic gastritis, Talipes equinovarus, High, narrow palate, Macroglossia, Right ven... OMIM:619472
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Open mouth, Pierre-Robin sequence, Submucous cleft ha... OMIM:192430
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of finger, Clinodactyly of the 5th finger, Cleft palate, Broad distal phalanx of fing... ORPHA:2636
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Cleft palate, Short philtrum, Delayed eruption of teeth, Pyloric stenosis, Bro... ORPHA:261552
Trichohepatoenteric Syndrome 1
Wide mouth, Narrow mouth, Long philtrum, Bifid uvula, Avascular necrosis of the capital femoral e... OMIM:222470
Cardiofaciocutaneous Syndrome
High palate, Abnormal morphology of ulna, Long philtrum, Genu valgum, Submucous cleft hard palate ORPHA:1340
Loeys-Dietz Syndrome 1
Talipes equinovarus, Eosinophilic infiltration of the esophagus, Cleft palate, Arachnodactyly, Bi... OMIM:609192
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Abnormal parotid gland morphology, Cleft soft palate OMIM:154500
Smith-Lemli-Opitz Syndrome
Overlapping toe, 2-3 toe cutaneous syndactyly, Short toe, 2-3 toe syndactyly, Cleft palate, Intes... OMIM:270400
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Hardikar Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal varix, Unilater... OMIM:301068
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Accelerated... ORPHA:90794
Steinfeld Syndrome
Hypoplasia of the radius, Bifid uvula, Hypoplasia of the ulna, Median cleft lip and palate, Aplas... OMIM:184705
Van Esch-O'Driscoll Syndrome
Wide mouth, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Bifid uvula, Downturned co... OMIM:301030
Restrictive Dermopathy 1
Narrow mouth, Flexion contracture, Neonatal death, Osteolytic defects of the distal phalanges of ... OMIM:275210
Pallister-Hall Syndrome
Cleft palate, Polydactyly affecting the 4th finger, Polydactyly affecting the 3rd finger, Anal at... ORPHA:672
Ehlers-Danlos Syndrome, Vascular Type