Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
follistatin
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Cervical Rib
Cervical ribs OMIM:117900
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
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 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Parana Hard Skin Syndrome
Generalized hirsutism, Short stature, Respiratory insufficiency, Pectus carinatum, Hyperkeratosis... ORPHA:2812
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Nemaline Myopathy 9
High palate, Narrow chest, Cleft palate, Micrognathia, Respiratory insufficiency, Scoliosis, Arth... OMIM:615731
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Leri Pleonosteosis
Abnormality of finger, Severe short stature, Genu recurvatum, Abnormally straight spine, Lack of ... ORPHA:2900
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Short stature, Spondylolysis, Os odontoideum, Atl... OMIM:600561
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
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 Dominant 2
Spinal rigidity, Flexion contracture, Pallor, EMG: myopathic abnormalities, Muscular dystrophy, P... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Respiratory failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Pectus excavatum, Malar flattening, Bruising susceptibility, Excessive wrinkled skin... OMIM:612940
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... OMIM:156530
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Pectus excavatum, Weakness of facial musculature, Increased variabil... ORPHA:536516
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... OMIM:208081
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Narrow mouth, Pectus excavatum, Flexion contracture, Microgn... ORPHA:1979
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Pectus excavatum, Spinal rigidity, Muscular dystrophy, Scoliosis, Dry skin, Follicul... OMIM:617066
Neuralgic Amyotrophy
Sprengel anomaly, Narrow mouth, Cleft palate, Short stature, Respiratory insufficiency, Scapular ... ORPHA:2901
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture clo... ORPHA:1832
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Muscle fiber necrosis, Pectus excavatum, Cleft palate, EMG: my... OMIM:614399
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Facial hypotonia, Increased endomysial connective tissue, Reduced vital capacity, Shoulder girdle... ORPHA:266
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Short stature, Abnormality of the dentition, Scoli... ORPHA:3268
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Costello Syndrome
Narrow palate, Woolly hair, Macroglossia, Short stature, Abnormality of the dentition, Lack of sk... ORPHA:3071
Huriez Syndrome
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly ORPHA:384
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Anonychia With Flexural Pigmentation
Macular telangiectasia, Follicular hyperkeratosis, Carious teeth, Hyperkeratosis, Abnormal hair m... ORPHA:69125
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Lamellar Ichthyosis
Sparse hair, Short stature, Everted lower lip vermilion, Abnormality of the dentition, Lack of sk... ORPHA:313
8Q22.1 Microdeletion Syndrome
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Abnormality of the dentition, Lack of skin el... ORPHA:178303
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, Pectus excavatum, Spinal rigidity, EMG: myopathic abnor... ORPHA:486815
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Thoracic kyphoscoliosis, Skeletal muscle atrophy, Respirator... ORPHA:98913
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Facial diplegia, Retrognathia, Micrognathia, Hip dysplasia, Short neck, Sc... OMIM:611890
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... OMIM:601668
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis ORPHA:281127
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
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
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Congenital Muscular Dystrophy, Ullrich Type
Increased endomysial connective tissue, Slender finger, Short neck, Increased variability in musc... ORPHA:75840
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scol... ORPHA:1248
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Narrow mouth, Flexion contracture, Micrognathia, Lack of skin elasticity, Scoliosis, Sc... OMIM:615381
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Werner Syndrome
Pili torti, Sparse scalp hair, Telangiectasia of the skin, Prematurely aged appearance, Subcutane... ORPHA:902
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Hip contracture, Severe short stature, Hyperextensibility of the finge... OMIM:313420
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism ORPHA:242
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Camptodactyly of finger, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, A... OMIM:212360
Neu-Laxova Syndrome
Cleft palate, Lack of skin elasticity, Pterygium, Trismus, Skeletal muscle atrophy, Intrauterine ... ORPHA:2671
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... ORPHA:598
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Congenital muscular dystr... OMIM:604801
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
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
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Micrognathia, Congenital hip dislocation, Scoliosis, Overlapping f... OMIM:618291
Mohr Syndrome
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... OMIM:252100
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Abnormal eyebrow morphology, Short distal phalanx of finger, Prematurely aged appear... ORPHA:90153
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... OMIM:609284
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... OMIM:618363
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Trichothiodystrophy 2, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Tiger tail banding, Short stature, Coarse hair,... OMIM:616390
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, High, narrow palate, Flexion contracture, EMG: myopathic abnorm... ORPHA:171433
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Scoliosis, Delayed eruption of teeth,... OMIM:265900
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Microretrognathia, Cyanosis, Scleroderma, Rectal prolapse,... OMIM:619793
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... ORPHA:93316
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Scoliosis, Hypoplasia of the odontoid proces... OMIM:609813
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Thin ribs, Short stature, Micrognathia, Short philtrum, Platyspondyly, Metaphyseal cu... ORPHA:163966
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Weill-Marchesani Syndrome 2
High palate, Lack of skin elasticity, Hypoplasia of the maxilla, Broad ribs, Proportionate short ... OMIM:608328
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Hyperkeratotic papule, Sparse ... ORPHA:3406
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Diaphragmatic eventration, Delayed eruption of teeth, Intrauterin... OMIM:600252
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Sjögren-Larsson Syndrome
Kyphosis, Urticaria, Short stature, Erythema, Dry skin, Scoliosis, Hyperkeratosis, Ichthyosis, Ab... ORPHA:816
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
Mitral Valve Prolapse 1
High palate, Pectus excavatum, High, narrow palate, Striae distensae, Reversed usual vertebral co... OMIM:157700
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal sternum morphology, Dislocated ra... ORPHA:166016
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiph... OMIM:612350
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Pectus carinatum, Mandibular prognathia, Intrauterine growth retar... ORPHA:1327
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... OMIM:256030
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis, Delayed puberty ORPHA:2297
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Cutaneous photosensitivity ORPHA:735
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Short stature, Pallor, Hypopigmentation of hair, Platyspondyly, Albinism ORPHA:2786
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... ORPHA:2795
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Baralle-Macken Syndrome
Kyphosis, Hirsutism, High, narrow palate, Acanthosis nigricans, Tapered finger, Striae distensae OMIM:619255
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Death in childhood, Tapered finger, Alopecia totalis, Acrocyanosis, Short f... OMIM:302000
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Symphalangism affecting the phalanges of the hand, Ul... ORPHA:628
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Hypodontia, Sparse hair, Thin vermilion border, Sho... OMIM:272440
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Hyperekplexia 4
High palate, Kyphoscoliosis, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogry... OMIM:618011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... OMIM:119600
Three M Syndrome 2
High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Malar flattening, S... OMIM:612921
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Scoliosis, Delayed erup... OMIM:613849
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic... ORPHA:498359
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility ORPHA:1643
Dermatitis, Atopic
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis, Ichthyosis OMIM:603165
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, I... ORPHA:98905
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Antisynthetase Syndrome
Telangiectasia of the skin, Joint dislocation, Lack of skin elasticity, Respiratory insufficiency... ORPHA:81
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Finger clinodactyly, Microdontia, ... ORPHA:3352
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed ... OMIM:184260
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Frontal upsweep of hai... OMIM:311450
Retinitis Pigmentosa 42
Pallor OMIM:612943
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... ORPHA:2759
Geleophysic Dysplasia 1
Wide mouth, Pectus excavatum, Irregular capital femoral epiphysis, Joint contracture of the hand,... OMIM:231050
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morpho... ORPHA:2790
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of fin... ORPHA:254528
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Acrootoocular Syndrome
Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, High, narrow palat... ORPHA:2980
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Oral mucosal blisters, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi... ORPHA:79399
Ectodermal Dysplasia/Short Stature Syndrome
Asthma, Hypodontia, Short stature, Enamel hypoplasia, Hyperkeratosis, Nail dystrophy OMIM:616029
Odontochondrodysplasia
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-... ORPHA:166272
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Short neck, Platyspondyly, Monkey wrench fe... OMIM:615777
Orofaciodigital Syndrome Type 2
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... ORPHA:2751
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Pseudoxanthoma Elasticum
High palate, Telangiectasia of the skin, Bruising susceptibility, Excessive wrinkled skin, Lack o... ORPHA:758
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Cleft palate, Short neck, Posterior rib fusi... ORPHA:1797
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hidrotic ectodermal dysplasia, Kyphosis, Sparse hair, Brittle hair, Short stature, Arachnodactyly... ORPHA:1883
Atelosteogenesis, Type Ii
Cleft palate, Horizontal sacrum, Short neck, Platyspondyly, Sandal gap, Thoracic hypoplasia, Incr... OMIM:256050
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Absent hair, Congenital alopecia totalis, Cleft palate, Absent ey... ORPHA:158687
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Short neck, Congenital hip d... OMIM:114300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
3M Syndrome
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of the ulna, Hypopl... ORPHA:2616
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Pectus excavatum, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Cutis laxa, ... OMIM:619451
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Stiff Skin Syndrome
Lack of skin elasticity, Thickened skin, Short stature ORPHA:2833
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Acquired Ichthyosis
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma ORPHA:454
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Sparse hair, Sparse eyebrow, Abnormality of the dentition, Cone-shaped epiphysis, Pe... ORPHA:77258
Erythrokeratodermia Variabilis
Generalized hirsutism, Short stature, Alopecia, Erythema, Dry skin, Tapered finger, Patchy palmop... ORPHA:317
Zimmermann-Laband Syndrome 3
High palate, Hypertrichosis, Absent distal phalanx of the 2nd toe, Facial hypertrichosis, Long ey... OMIM:618658
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Spinal muscular atrophy, Congenital finger fle... ORPHA:166108
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly... OMIM:304120
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cleft palate, Micrognathia, Cyanosis, Tachypnea, Pneumothorax, Abnormal hemidiaphr... ORPHA:2257
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Kyphoscoliosis, Absent eyebrow, Cleft palate, Short stature, Joint contracture o... OMIM:601701
Acrofacial Dysostosis, Palagonia Type
Pili torti, Low anterior hairline, Supernumerary tooth, High, narrow palate, Malar flattening, Sh... ORPHA:1787
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Retinitis Pigmentosa 60
Pallor OMIM:613983
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... OMIM:615348
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker... ORPHA:79395
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Dysosteosclerosis
High palate, Short sternum, Platyspondyly, Delayed eruption of teeth, Broad ribs, Sclerotic scapu... OMIM:224300
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Orthokeratosis, Alopecia, Congenital hip dislocation, Hypoplastic pelvis, Aplasia of the distal p... OMIM:308050
Nemaline Myopathy 7
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... OMIM:610687
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... OMIM:609052
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
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
Ullrich Congenital Muscular Dystrophy 1
High palate, Kyphosis, Muscle fiber necrosis, Torticollis, Spinal rigidity, Flexion contracture, ... OMIM:254090
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Sparse body ha... OMIM:257980
Ichthyosis Hystrix Of Curth-Macklin
Flexion contracture, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Nail dystrophy ORPHA:79503
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Brachydactyly, Barrel-shape... ORPHA:263463
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Sleep apnea, Lumbar hyperlordosis, Cutis marmorata, Congenital hip dislocati... OMIM:619719
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis OMIM:617571
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... ORPHA:206559
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Retinitis Pigmentosa 81
Pallor OMIM:617871
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, G... OMIM:619057
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Thick eyebr... ORPHA:3473
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Retrognathia, Respiratory insufficiency, Respiratory failure, Arthrogryposis multipl... OMIM:615330
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Sparse h... ORPHA:2872
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... ORPHA:1145
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... ORPHA:364577
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Severe short stature, Clinodactyly of the 5th fing... ORPHA:2635
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Asthma, Flexion contracture, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Scaling skin, Growth... OMIM:614457
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Pectus excavatum... OMIM:264475
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Thick... ORPHA:502
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Loeys-Dietz Syndrome 4
High palate, Torticollis, Abnormal sternum morphology, Spondylolisthesis, High, narrow palate, Eo... OMIM:614816
Temple Syndrome
High palate, Cleft palate, Short stature, Flexion contracture, Micrognathia, Short philtrum, Smal... OMIM:616222
Ramon Syndrome
Telangiectasia of the skin, Generalized hirsutism, Narrow palate, Delayed eruption of teeth, Ging... ORPHA:3019
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Sparse hair, Syndactyly, Follicular hyperkeratosis, Enamel hypoplasia, Palm... OMIM:613576
W Syndrome
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Agenesis of maxillary central incisor, Broa... ORPHA:2804
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Wide mouth, Kyphosis, Macroglossia, Short stature, Small hand, Brachydactyly, Striae distensae, S... OMIM:300354
Presynaptic Congenital Myasthenic Syndromes
High palate, Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic ap... ORPHA:98914
Congenital Myasthenic Syndrome
High palate, Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic ap... ORPHA:590
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Hutchinson-Gilford Progeria Syndrome
High palate, Limitation of movement at ankles, Impacted tooth, Lack of skin elasticity, Delayed e... ORPHA:740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Distal amyotrophy, Facial palsy,... OMIM:607684
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Optic Atrophy 9
Pallor OMIM:616289
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Bruising susceptibility, Soft skin, Recurrent joint dislocation, Congenital hi... OMIM:130010
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Pectus carinatum, Coxa magna,... OMIM:190350
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... ORPHA:90117
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300431
Classic Phenylketonuria
Growth delay, Lack of skin elasticity, Hypopigmentation of hair ORPHA:79254
Ovarian Fibrothecoma
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... ORPHA:314478
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Hereditary Motor And Sensory Neuropathy, Type Iic
Short stature, Down-sloping shoulders, Stridor, Scoliosis, Hand muscle atrophy, Shoulder girdle m... OMIM:606071
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... OMIM:609560
Sandestig-Stefanova Syndrome
High palate, Retrognathia, Sparse medial eyebrow, Highly arched eyebrow, Laterally extended eyebr... OMIM:618804
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Achilles tendon contra... ORPHA:610
Atypical Werner Syndrome
Telangiectasia of the skin, Progeroid facial appearance, Alopecia, Lack of skin elasticity, Finge... ORPHA:79474
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Dyspnea ORPHA:228312
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
High palate, Pallor, Micrognathia, Generalized limb muscle atrophy, Distichiasis, Delayed puberty OMIM:600462
Acute Myelomonocytic Leukemia
Pallor, Dyspnea, Abnormality of the gingiva ORPHA:517
Radio-Renal Syndrome
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Retrognathia, Micro... ORPHA:3015
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Hypodontia, Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Conic... OMIM:262020
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance OMIM:617336
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Intrauterine growth retardation, Abnormality of finger, Severe short... ORPHA:2319
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Tetrasomy 5P
High palate, Respiratory distress, Overlapping toe, Pectus excavatum, Clinodactyly of the 5th fin... ORPHA:3309
Leopard Syndrome 3
Short stature, Short neck, Shield chest, Dry skin, Hyperkeratosis, Cubitus valgus, Epidermal hype... OMIM:613707
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Sparse hair, Sparse eyebrow, Decreased number of sternal ossificat... OMIM:234100
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... OMIM:228560
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... OMIM:620011
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti... ORPHA:2484
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Short long bone, Scoliosis, Neonatal death, Death in adolescenc... OMIM:619751
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Low anterior hairline, Adducted thumb, Thin vermilion border, Short philtrum, Highly arched eyebr... OMIM:618622
Autosomal Recessive Cutis Laxa Type 1
Cutis laxa, Joint subluxation, Lack of skin elasticity, Redundant skin, Respiratory insufficiency... ORPHA:90349
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Coffin-Lowry Syndrome
High palate, Wide mouth, Pectus excavatum, Broad finger, Delayed eruption of teeth, Advanced erup... ORPHA:192
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal amyotrophy, Ankle ... OMIM:617519
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Sparse hair, Cone-shaped epiphyses of the middle phalanges... OMIM:190351
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Alopecia, Short 1st metacarpal, Respiratory insufficiency, Progre... OMIM:135100
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tooth agenesis, Leukonychia, Woolly hair, Erythema, Gingival recession, Hyperkeratosis, Ichthyosi... OMIM:615821
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Growth delay, Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Re... OMIM:245400
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microd... OMIM:258850
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300602
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Cutaneous photosensitivity, Skin ulcer, Palmoplantar keratoderma, Con... ORPHA:312
Primary Lateral Sclerosis, Juvenile
Pallor, Difficulty in tongue movements, Spasticity of facial muscles OMIM:606353
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Broad long bones, Malar flattening, Short stature, Flared me... OMIM:269300
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Catifa Syndrome
Asthma, Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly,... OMIM:618761
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Anal atresia, Ectopic anus, Cervical C2/C3 vertebral fusion, Cleft palate, Abno... ORPHA:2345
Peripheral Cone Dystrophy
Pallor OMIM:609021
Pycnodysostosis
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... ORPHA:763
Intellectual Developmental Disorder, X-Linked 90
High palate, Narrow chest, Bifid uvula, Malar flattening OMIM:300850
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... ORPHA:2025
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Bruising susceptibility, Follicular hyperkeratosis, Hyperextensible skin, Skeleta... ORPHA:300179
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Kyphosis, Increased endomysial connective tissue, Reduced vital capacity, Flexion co... ORPHA:178148
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Cutis laxa, Sparse eyebrow, Eclabion, Absent pubic hair, Dry skin, G... ORPHA:2269
Flynn-Aird Syndrome
Kyphoscoliosis, Alopecia, Carious teeth, Hyperkeratosis, Alopecia of scalp OMIM:136300
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... ORPHA:1801
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Myopathy, Mitochondrial, And Ataxia
High palate, Growth delay, Pectus excavatum, Short stature, Pallor, Micrognathia, Increased varia... OMIM:617675
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Apnea, Kyphosis, Hyperextensibility of the finger joints, Fronta... OMIM:619797
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Dry skin, Delayed eruption of teeth, Wormian bones, Gro... OMIM:614450
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Narrow mouth, Aplasia of the ulna, Short sternum, Short metaca... OMIM:266910
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
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
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Soft skin, Osteoarthritis, Striae distensae, Hyperextensible skin OMIM:130020
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Oral mucosal blisters, Dystrophic toenail, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Cleft palat... ORPHA:2311
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Cleft palate, Short stature, Alopecia, Unilateral chest hypoplasia, Abnormality o... OMIM:308205
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5th finger, Severe short stature, Sp... ORPHA:1005
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Short stature, Hyperkeratosis, Conical tooth, Absent eyelashes, Nail... OMIM:618625
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Rare Circulatory System Disease
Abnormality of finger, Spinal rigidity, Pallor, Abnormal metatarsal morphology, Cyanosis, Enlarge... ORPHA:98028
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Clubbing OMIM:219400
Incontinentia Pigmenti
Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Delayed eruption of teeth, Breast aplasia, Con... OMIM:308300
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Coffin-Siris Syndrome 2
High palate, Wide mouth, Hirsutism, Sparse scalp hair, Thick eyebrow, Low anterior hairline, Clef... OMIM:614607
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Schwartz-Jampel Syndrome
High palate, Apnea, Pectus excavatum, Pursed lips, Cleft palate, Abnormally ossified vertebrae, S... ORPHA:800
Elsahy-Waters Syndrome
High palate, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxil... OMIM:211380
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Bruising susceptibility, Generalized hypoplasia of d... ORPHA:49042
Autosomal Recessive Centronuclear Myopathy
High palate, Facial diplegia, Narrow mouth, Hip contracture, Retrognathia, Left ventricular hyper... ORPHA:169186
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S... ORPHA:63442
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Platyspondyly, Upper limb undergrowth, Disproportionate short-... ORPHA:168549
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Kyphoscoliosis, Pectus excavatum, Advanced ossification of carpal bones, Sp... OMIM:615349
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... OMIM:183900
Ear-Patella-Short Stature Syndrome
Respiratory distress, Cleft palate, Craniosynostosis, Breast aplasia, Abnormal epiphysis morpholo... ORPHA:2554
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Renpenning Syndrome
Sprengel anomaly, Growth delay, Narrow mouth, Abnormal hairshaft morphology, Severe short stature... ORPHA:3242
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital nonbullous ichthyosiform erythroderma, Short toe, Congenital ichthyosiform erythroderm... OMIM:242100
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Myhre Syndrome
Sparse hair, Cleft palate, Short philtrum, Short neck, Birth length less than 3rd percentile, Pla... OMIM:139210
Cohen Syndrome
Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Thic... OMIM:216550
Adducted Thumbs Syndrome
High palate, Hypertrichosis, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Cra... OMIM:201550
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Spondylolisthesis, Short stature, Spondy... OMIM:265800
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bo... ORPHA:1505
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Short stature, Micrognathia, Camptodactyly of finger, ... ORPHA:2863
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... OMIM:604320
Anauxetic Dysplasia 3
Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala... OMIM:618853
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Congenital Disorder Of Glycosylation, Type Iig
High palate, Vertebral segmentation defect, Butterfly vertebrae, Postnatal growth retardation, Cl... OMIM:611209
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Short stature, Thin vermilion border, Long philtrum, Long eyelashes, ... OMIM:615502
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Mosaic Trisomy 14
High palate, Wide mouth, Narrow chest, Ectopic anus, Cleft palate, Micrognathia, Camptodactyly of... ORPHA:1703
Intellectual Developmental Disorder, Autosomal Dominant 62
Arachnodactyly, Striae distensae, Scoliosis OMIM:618793
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Severe short stature, Malar flattening, Cleft palate, Alopecia, Micrognathia, Res... OMIM:215100
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Abnormal hair morphology, To... ORPHA:2963
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... ORPHA:96170
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Weakness of facial musculature, Quadriceps muscle w... ORPHA:70
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Preaxial foot polydactyly, Aplasia/H... ORPHA:1988
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of vertebral bodies, ... ORPHA:137834
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Orofacial Cleft 15
Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft palate, Palate fis... OMIM:616788
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption... OMIM:141300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Hypodontia, Sparse hair, Sparse eyelashes, Alopecia, Oligodontia, Dry skin, Ename... OMIM:607626
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Scoliosis, Bell-sha... OMIM:187760
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thick eyebrow, Brittle hair, Short stature, Thin vermilion bord... OMIM:617412
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Camptoda... ORPHA:2199
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Neuropathic arthropathy, Foot dorsiflexor weakness, Cough, Distal amyotrophy,... ORPHA:36386
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Chime Syndrome
Sparse hair, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Abnormal ep... ORPHA:3474
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Noonan Syndrome 8
Abnormal sternum morphology, Short stature, Left ventricular hypertrophy, Palmoplantar cutis laxa... OMIM:615355
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Flexion contracture, Retrognathia, Short philtrum, Camptodactyly of finger, Respirato... ORPHA:1194
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... OMIM:253000
Irida Syndrome
Pallor, Abnormal intestine morphology, Hyperkeratosis, Ichthyosis ORPHA:209981
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate OMIM:216300
Apnea, Central Sleep