Gene Summary

Name:
follistatin
Synonyms:
N/A

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Fstem1(IMPC)Wtsi HET Early adult 4.19×10-06
preweaning lethality, complete penetrance Fstem1(IMPC)Wtsi HOM   Early adult 3.18×10-05
persistence of hyaloid vascular system Fstem1(IMPC)Wtsi HET   Early adult 3.45×10-05
abnormal vitreous body morphology Fstem1(IMPC)Wtsi HET   Early adult 2.40×10-05
increased total body fat amount Fstem1(IMPC)Wtsi HET   Early adult 4.95×10-06
decreased lean body mass Fstem1(IMPC)Wtsi HET   Early adult 1.67×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Fst 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 Fst by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Cervical Rib
Cervical ribs OMIM:117900
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Neuralgic Amyotrophy
Redundant neck skin, Respiratory insufficiency, Scapular winging, Narrow mouth, Upper limb muscle... ORPHA:2901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Parana Hard Skin Syndrome
Respiratory insufficiency, Pectus carinatum, Hyperkeratosis, Restricted chest movement, Short sta... ORPHA:2812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ... ORPHA:2900
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Kyphosis, Congenital finger flexion contractures... ORPHA:536516
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Cutis Laxa, Autosomal Recessive, Type Iib
Long philtrum, Excessive wrinkled skin, Scoliosis, Redundant skin, High palate, Pectus excavatum,... OMIM:612940
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb... OMIM:156530
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Narrow mouth, Pectus excavatum, Thickened sk... ORPHA:1979
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Weakness of the intrinsic hand muscles, Limb-girdle muscle weaknes... ORPHA:178400
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Spinal rigidity, Scoliosis, High palate, Pectus excavatum, Dry skin, Increase... OMIM:617066
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormality of th... ORPHA:3268
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Nemaline Myopathy 6
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:609273
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Acanthosis nigricans, Abnormal hair morphology, Abnorma... ORPHA:3071
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Limb muscle weakness, Short stature, Atl... OMIM:600561
Huriez Syndrome
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly ORPHA:384
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness OMIM:164300
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Gingival overgrowth, Delayed cranial suture closure, Mandibu... ORPHA:1832
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Spinal rigidity, Scoliosis, High palate, EMG: myopathic abnormalities, Pectus ex... ORPHA:486815
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, High palate, Pectus excavatum, Facial palsy, EMG: myopathic... OMIM:614399
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Reduced muscle... ORPHA:280333
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Abnormality of the dentition, Palmoplantar hyperkeratosis OMIM:617756
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Increased variability in muscle fiber diameter,... OMIM:300717
Anonychia With Flexural Pigmentation
Macular telangiectasia, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Carious teet... ORPHA:69125
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Talipes equinovarus ORPHA:178145
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Everted lower lip vermilion, Abnormality of the dentition, Dry skin, ... ORPHA:313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Hammertoe, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type groupi... OMIM:608340
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
8Q22.1 Microdeletion Syndrome
Sandal gap, Craniosynostosis, Finger syndactyly, Highly arched eyebrow, Abnormality of the dentit... ORPHA:178303
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Scoliosis, Facial diplegia, High palate, Kyphosis, Respiratory ... OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Kyphosis, Adducted thumb, Long toe, Hip dislocation, Scoliosis, Elbow flexion co... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities, Weakn... ORPHA:399086
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Rocker bottom foot, Skin ulcer, Chondroca... ORPHA:902
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Scoliosis, Open bite, Mandibular prognathia, Microdontia, Vertebr... ORPHA:1248
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Congenital Myopathy 14
Weakness of facial musculature, Elbow flexion contracture, High palate, Death in infancy, Increas... OMIM:618414
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities,... OMIM:610099
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Camptodactyly of finger... OMIM:212360
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Neu-Laxova Syndrome
Retrognathia, Everted lower lip vermilion, Bifid uvula, Intrauterine growth retardation, Pterygiu... ORPHA:2671
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Pectus carinatum, Hyperextensibility of the finger joint... OMIM:313420
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Orofaciodigital Syndrome Ii
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ... OMIM:252100
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Proximal amyotrophy, Resp... OMIM:253300
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Perching Syndrome
Scoliosis, High palate, Camptodactyly, Joint contracture, Cyanosis OMIM:617055
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Prematurely aged appearance, Alopecia, Wormian bones, Osteolytic defects of the d... ORPHA:90153
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Scoliosis, Mandi... OMIM:265900
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Type 1 muscle fiber predominance, Abnormality of masticatory muscle, Scolios... ORPHA:98913
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type ... OMIM:619903
Trichothiodystrophy 2, Photosensitive
Ichthyosis, Cutaneous photosensitivity, Tiger tail banding, Short stature, Congenital nonbullous ... OMIM:616390
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Rhizomelia, Genu valgum, Fixed elbow flexion, Small epiphy... ORPHA:166016
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Skeletal muscle hypertrophy, Scoliosis, Calf muscle hypertrophy, Hypog... ORPHA:370968
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Ulerythema Ophryogenesis
Facial erythema, Miscarriage, Dry skin, Sparse lateral eyebrow, Hyperkeratotic papule, Follicular... ORPHA:3406
Intermediate Nemaline Myopathy
High, narrow palate, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies... ORPHA:171433
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Distal Nebulin Myopathy
Ankle flexion contracture, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, ... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... OMIM:612937
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Joint contracture, Skelet... OMIM:616081
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Hyperkeratosis, Abnormality of the... ORPHA:163966
Distal Myotilinopathy
Distal amyotrophy, Multiple joint contractures, EMG: myopathic abnormalities, Abnormal muscle fib... ORPHA:98911
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Thickened skin, Striae distensae,... OMIM:608328
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300718
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Hammertoe, Increased variability in muscle fiber diameter, Increased endomysial connective tissue... OMIM:620542
Sjögren-Larsson Syndrome
Ichthyosis, Abnormal dental enamel morphology, Scoliosis, Hyperkeratosis, Dry skin, Kyphosis, Sho... ORPHA:816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Scoliosis, Narrow mouth, Kyphosis, Micrognathia, Joint contracture, Lack of skin... OMIM:615381
Mitral Valve Prolapse 1
High, narrow palate, High palate, Pectus excavatum, Striae distensae, Reversed usual vertebral co... OMIM:157700
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Flexion contracture, P... OMIM:603511
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,... OMIM:605355
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal meta... ORPHA:1452
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Pectus carinatum, Pectus excavatum,... ORPHA:1327
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte... OMIM:612350
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Kyphosis, Short stature, Platyspondyly, Pallor, Albinism ORPHA:2786
Insulin-Resistance Syndrome Type A
Delayed puberty, Hyperkeratosis, Generalized hirsutism ORPHA:2297
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Cutaneous photosensitivity ORPHA:735
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... OMIM:310440
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... OMIM:617526
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy OMIM:610542
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Diaphragmatic eventration, Intrauterine growth retardati... OMIM:600252
Arthrogryposis, Distal, Type 12
Spinal rigidity, Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalan... OMIM:620545
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec... ORPHA:628
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Severe short stature, Acrocyanosis, Alopecia totalis, Tapered f... OMIM:302000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Facial palsy, Kyphosis, EM... OMIM:606612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Baralle-Macken Syndrome
High, narrow palate, Acanthosis nigricans, Striae distensae, Hirsutism, Kyphosis, Tapered finger OMIM:619255
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Hypodon... OMIM:272440
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased endomysial connective tissue, Generalized limb muscle atrophy, Type ... OMIM:620249
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Highly ar... OMIM:613684
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Limb muscle weakness, General... OMIM:167320
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Kyphosis, Prenatal death, Campto... OMIM:618393
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Spinal rigidity, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amy... OMIM:604801
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... ORPHA:171445
Restrictive Dermopathy 2
Rectal prolapse, Short clavicles, Overtubulated long bones, Thickened skin, Hypoplastic facial bo... OMIM:619793
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:617571
Three M Syndrome 2
Long philtrum, Delayed eruption of teeth, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosi... OMIM:612921
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy OMIM:609452
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Abnormal hair quantity, Micro... ORPHA:3352
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Short long bone, Tooth agenesis, Flattened epiphysis, Thoracic hyp... OMIM:618363
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Hyperekplexia 4
Kyphoscoliosis, Adducted thumb, High palate, Camptodactyly, Distal arthrogryposis, Flexion contra... OMIM:618011
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... ORPHA:34515
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Lethal Acantholytic Erosive Disorder
Absent hair, Clinodactyly of the 5th finger, 4-5 finger syndactyly, Absent eyelashes, 3-4 finger ... ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Retrognathia, Redundant neck skin, Long toe, Exaggerated cupid's bo... ORPHA:254528
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Leg muscle stiffness, L... OMIM:608810
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Geleophysic Dysplasia 1
Short long bone, Pectus excavatum, Wrist flexion contracture, Thickened skin, Wide mouth, Long ph... OMIM:231050
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Acrootoocular Syndrome
Kyphoscoliosis, Sandal gap, Abnormality of facial musculature, Pectus excavatum, Short metacarpal... ORPHA:2980
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Short metacarpal, Sparse hair, Long philtrum, Fine hair, Short finger, Scoliosis... OMIM:190351
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hyperkeratosis, Skin fragility with non-scarring blistering, Abnormality of the d... ORPHA:79399
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Congenital Myopathy 20
Short finger, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in... OMIM:620310
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... OMIM:620389
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypopl... ORPHA:2616
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Stiff Skin Syndrome
Short stature, Thickened skin, Lack of skin elasticity ORPHA:2833
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Hypertrophied muscle f... OMIM:500009
Amish Nemaline Myopathy
Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,... ORPHA:98902
Pseudoxanthoma Elasticum
Excessive wrinkled skin, Hyperextensible skin, Scoliosis, High palate, Lack of skin elasticity, T... ORPHA:758
Cutis Laxa, Autosomal Recessive, Type Iie
Thick lower lip vermilion, Clinodactyly of the 5th finger, Short thorax, Highly arched eyebrow, S... OMIM:619451
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Brittle hair, Scoliosis, Hyperkeratosis, Kyphosis, Short sta... ORPHA:1883
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Death in childhood, Ichthyosis, Limb hypertonia, Hyperkeratosis, Dry skin, Gingivit... OMIM:614457
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fingertip,... ORPHA:79395
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... ORPHA:86812
Trichorhinophalangeal Syndrome Type 1
Pectus carinatum, Hyperlordosis, Short metacarpal, Sparse hair, Short distal phalanx of finger, L... ORPHA:77258
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Abnormal fo... ORPHA:1787
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Palmoplantar keratoderma, Erythema ORPHA:454
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Nail dystrophy, Decreased number of sweat glands, Palmoplantar hyperkeratosi... ORPHA:69087
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Abnormal hair morphology, Hyperkeratosis, Dry skin, Short stature, Pa... ORPHA:317
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperost... ORPHA:2790
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Narrow greater sciatic notch, Short long bone, Severe short stature, Abnormality ... ORPHA:93316
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Intellectual Disability, Birk-Barel Type
Hypomimic face, High, narrow palate, Sacral dimple, Limited elbow flexion/extension, Short philtr... ORPHA:166108
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Arthrogryposis And Ectodermal Dysplasia
Kyphoscoliosis, Orofacial cleft, Trichiasis, Abnormal dental enamel morphology, Oligodontia, Hype... OMIM:601701
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Type 1 muscle fiber... ORPHA:98905
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Aarskog-Scott Syndrome
Pectus excavatum, Everted lower lip vermilion, Long philtrum, Abnormality of the dentition, Short... ORPHA:915
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Limb-gird... OMIM:613818
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Scoliosis, Hyperkeratosis, 4-5 toe syndac... OMIM:308050
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Resp... OMIM:615348
Antisynthetase Syndrome
Joint dislocation, Respiratory insufficiency, Myositis, Arthritis, Telangiectasia of the skin, La... ORPHA:81
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Short stature, Short p... OMIM:114300
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Flexion contracture ORPHA:79503
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Disproportionate short-limb short stature, Pectus carinatum, Flat a... OMIM:609052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodactyly, Upper l... ORPHA:2804
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Fine hair, Hypergranulosis, Plantar hyperkeratosis, Widely spaced p... OMIM:257980
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Long philtrum, Genu valgum, Rhizomelia, Intervertebral space narrowing, Barrel-sh... ORPHA:263463
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Generalized limb muscle atrophy, Ragged-red muscle fibers, Hyperlordosis, Scapul... OMIM:600462
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Respiratory insufficiency due to ... OMIM:613561
Zimmermann-Laband Syndrome
Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Generalized hypertri... ORPHA:3473
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Narrow chest, Delayed eruption ... ORPHA:166272
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Syndactyl... OMIM:613576
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormality of the philtru... ORPHA:2759
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup... ORPHA:364577
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Reduced muscle collagen VI, Torticollis, Respiratory insuffi... OMIM:254090
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin, Ichthyosis OMIM:603165
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, Centrally nucleate... OMIM:618484
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Death in infancy, D... OMIM:256050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle... OMIM:609308
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Genu valgum, Joint dislocation, Cone-shaped epip... ORPHA:502
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Sandestig-Stefanova Syndrome
Rocker bottom foot, Orofacial cleft, Retrognathia, Highly arched eyebrow, Sparse medial eyebrow, ... OMIM:618804
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Thick lower lip vermilion, Sandal gap, Mandibular prognathia, Short foot, Kyphos... OMIM:300354
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Severe short stature, Intrauterine growth retardation, Respiratory failure, Neonata... OMIM:619057
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Retrognathia, Hypomimic face, Respiratory insufficiency, Gingival overgrowth, Faci... OMIM:618186
Ichthyosis With Erythrokeratoderma
Scaling skin, Leukonychia, Parakeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperker... OMIM:620507
Classic Phenylketonuria
Growth delay, Lack of skin elasticity, Hypopigmentation of hair ORPHA:79254
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin OMIM:146590
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Cutis marmor... OMIM:619719
Schopf-Schulz-Passarge Syndrome
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis, Ectodermal dysplasia, Dry skin, Sparse ... OMIM:224750
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Ehlers-Danlos Syndrome, Classic Type, 2
Hyperextensible skin, Recurrent joint dislocation, Fragile skin, Congenital hip dislocation, Recu... OMIM:130010
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Myopathy, Mitochondrial, And Ataxia
Thick hair, Scoliosis, Mandibular prognathia, High palate, Pectus excavatum, Distal amyotrophy, S... OMIM:617675
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Congenital Myopathy 24
Facial palsy, Scapular winging, Nemaline bodies, Type 1 muscle fiber predominance, Talipes equino... OMIM:617336
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Ma... OMIM:620278
Leopard Syndrome 3
Cubitus valgus, Hyperkeratosis, Dry skin, Low posterior hairline, Curly hair, Short stature, Shie... OMIM:613707
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Coffin-Siris Syndrome 3
Long philtrum, Central diaphragmatic hernia, Scoliosis, Hirsutism, High palate, Sparse scalp hair... OMIM:614608
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Calf muscle hypertrophy, Scapular winging, Proximal amyotrophy, Reduced muscle fiber alpha dystro... ORPHA:206559
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichth... ORPHA:2269
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Atypical Werner Syndrome
Delayed puberty, Premature graying of hair, Rocker bottom foot, Calf muscle hypertrophy, White fo... ORPHA:79474
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Scoliosis, Ventilator dependence with inability to wean, Spinal muscul... ORPHA:254875
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Coxa valga, H... ORPHA:2484
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Kyphosis, Short s... OMIM:258850
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Leukonychia, Nail dystrophy, Hyperkeratosis, Gingival recession, Wooll... OMIM:615821
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Hyperextensible skin, Skeletal muscle atrophy, Bruising susceptibility, Myopathy,... ORPHA:300179
Juberg-Hayward Syndrome
Orofacial cleft, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wris... ORPHA:2319
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Scoliosis, Prominent median palatal raph... OMIM:300602
Incontinentia Pigmenti
Kyphoscoliosis, Nail dystrophy, Sparse hair, Fine hair, Breast hypoplasia, Conical tooth, Oligodo... OMIM:308300
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... OMIM:117650
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Growth delay, Neonatal death, Sk... OMIM:245400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Scapular winging, EMG: myopathic abnormalities, Minicore myopat... ORPHA:424107
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Respiratory insufficiency, High palate, Intrauterine growth retardation, Respirator... OMIM:615330
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Flynn-Aird Syndrome
Kyphoscoliosis, Alopecia of scalp, Hyperkeratosis, Carious teeth, Alopecia OMIM:136300
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death OMIM:301021
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Adducted thumb, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrog... OMIM:618291
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Pectus excavatum, Cutis laxa, Sparse hair, Hip dislocation, Short stature, Cleft ... OMIM:615349
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Conical tooth, Hyperkeratosis, Absent eyelashes, Absent eyebrow, Short stature, S... OMIM:618625
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Dental crowdin... OMIM:269300
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology, Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Long philtrum, Abnormal intervertebral disk morphology, Spina bi... ORPHA:2311
Trichorhinophalangeal Syndrome, Type I
Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox... OMIM:190350
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Oral mucosal blisters, Palmoplantar hyperkeratosis ORPHA:89838
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid uvula, Broad philtrum, Abnormality of th... OMIM:211380
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnormal... ORPHA:1005
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Dry skin, Congenital hip dislocation, Growth delay, Wormian bones, Mac... OMIM:614450
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... ORPHA:1801
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... OMIM:187760
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Anauxetic Dysplasia 3
Retrognathia, Femoral bowing, Pectus excavatum, Short metacarpal, Trident hand, Cutis laxa, Sever... OMIM:618853
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Redundant skin, Pectus excavatum, Kyphos... ORPHA:192
Coffin-Siris Syndrome 2
Long philtrum, Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, ... OMIM:614607
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Ragged-red muscle fibers, Increased muscle lipid content, Myop... ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c... ORPHA:1145
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Dental crowding, Limitation of movement at ankles, Impacted tooth, Abnormal thorax ... ORPHA:740
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Generalized amyotrophy, Ang... OMIM:620285
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Congenital bullous ichthy... OMIM:607602
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Leukonychia, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Fragile skin, ... OMIM:616295
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, M... ORPHA:3242
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Joint dislocation, Osteoarthritis, Soft skin, Striae distensae OMIM:130020
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Pectus carinatum, Scoliosis, Hyperextensibility of the finger joints, ... OMIM:613849
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Pectus excavatum, K... ORPHA:800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Muscular dystrophy, Respiratory failure, Death in infancy OMIM:613869
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Fiber type grouping, Skeletal muscle atrophy, Diaphragmatic eventrat... OMIM:620011
Ichthyosis, Congenital, Autosomal Recessive 2
Short finger, Abnormal hair morphology, Congenital ichthyosiform erythroderma, Hyperkeratosis, Ev... OMIM:242100
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Proximal placement of thumb, Short metacarpal, Bifid uvula, Short 5th... OMIM:268305
Hallermann-Streiff Syndrome
Hyperlordosis, Pectus excavatum, Everted lower lip vermilion, Sparse hair, Fine hair, Telangiecta... OMIM:234100
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Thickened skin, Generalized ... OMIM:139210
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Ichthyosis, Cyanotic episode, Craniosynostosis, Micrognathia, Limb joi... ORPHA:284417
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the 5th finger, Abnormal e... ORPHA:63442
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Mosaic Trisomy 14
Narrow chest, Ectopic anus, High palate, Abnormal rib morphology, Camptodactyly of finger, Microg... ORPHA:1703
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Elevated circulat... OMIM:619203
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Redundant neck skin, Small proximal tibial epiphyses, Broad distal ... ORPHA:96334
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Acanthosis nigricans, Narrow chest, Wide anterior fon... OMIM:616482
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubular inclusions, Genera... ORPHA:353327
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Delay... ORPHA:2050
Pycnodysostosis
Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Scoliosis, Wormian bones... OMIM:265800
Irida Syndrome
Hyperkeratosis, Pallor, Abnormal intestine morphology, Ichthyosis ORPHA:209981
Loeys-Dietz Syndrome 4
Retrognathia, High, narrow palate, Hyperextensible skin, Spondylolisthesis, Torticollis, Abnormal... OMIM:614816
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Long eyelashes, Short st... OMIM:615502
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post... OMIM:617895
Tetrasomy 5P
Postnatal growth retardation, Redundant neck skin, Clinodactyly of the 5th finger, Short hallux, ... ORPHA:3309
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Anal ... ORPHA:2863
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Unilateral cleft palate, Six lumbar vertebrae, Micrognathia, ... OMIM:619122
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh... OMIM:135100
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Cohen Syndrome
Delayed puberty, High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtr... OMIM:216550
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb muscle weakness, Ge... OMIM:609560
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Prematurely aged appearance, Wide anterior fontanel, Redundant skin, Ma... ORPHA:2963
Femoral-Facial Syndrome
Orofacial cleft, Abnormal fibula morphology, Preaxial foot polydactyly, Scoliosis, Vertebral segm... ORPHA:1988
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Broad thumb, Wide mouth, Short distal phalanx of finger, Long ph... OMIM:616331
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor... ORPHA:137834
Myasthenic Syndrome, Congenital, 5
Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 m... OMIM:603034
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Clubbing, Camptodactyly, Interphalangeal joint contracture o... ORPHA:2199
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Pectus carinatum, Scol... OMIM:619797
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Brittle hair, Highly arche... OMIM:617412
Intellectual Developmental Disorder, Autosomal Dominant 62
Arachnodactyly, Scoliosis, Striae distensae OMIM:618793
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges... ORPHA:3474
Bazex Syndrome
Scaling skin, Nail dystrophy, Yellow nails, Lip hyperpigmentation, Parakeratosis, Acanthosis nigr... ORPHA:166113
Bethlem Muscular Dystrophy
Spinal rigidity, Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakne... ORPHA:610
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Intrinsic hand muscle atrophy, Hand muscle atrophy, Type 2 muscle fib... OMIM:601462
Ectopia Lentis 1, Isolated, Autosomal Dominant
Pectus carinatum, Scoliosis, High palate, Pectus excavatum, Arachnodactyly, Striae distensae OMIM:129600
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:619834
Orofacial Cleft 15
High anterior hairline, Palate fistula, Bilateral cleft palate, Distichiasis, Sparse eyelashes, S... OMIM:616788
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Short stature, Lumbar scoliosis, ... OMIM:601492
Prolidase Deficiency
Skin ulcer, Genu valgum, Abnormal hip bone morphology, Cutaneous photosensitivity, Hyperkeratosis... ORPHA:742
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Temtamy Preaxial Brachydactyly Syndrome