Gene Summary

Name:
calcium channel, voltage-dependent, L type, alpha 1S subunit
Synonyms:
Cchl1a3,  sj,  DHPR alpha1s,  Cav1.1,  fmd,  muscle dysgenesis,  mdg

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
edema Cacna1stm1.1(KOMP)Vlcg HOM E15.5 0.00
cyanosis Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
respiratory system phenotype Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
unresponsive to tactile stimuli Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
decreased circulating glucose level Cacna1stm1.1(KOMP)Vlcg HET   Early adult 3.96×10-05
abnormal placenta vasculature Cacna1stm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal facial morphology Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal embryo size Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
preweaning lethality, complete penetrance Cacna1stm1.1(KOMP)Vlcg HOM   Early adult 0.00
hemorrhage Cacna1stm1.1(KOMP)Vlcg HOM E18.5 0.00
hemorrhage Cacna1stm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Small intestine  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 573)
brain 0.52% (3 of 577)
brainstem 0.35% (2 of 574)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 568)
cerebellum 0.52% (3 of 573)
cerebral cortex 0.35% (2 of 577)
epididymis 13.53% (18 of 133)
esophagus 1.75% (7 of 401)
eye 0.0%
heart 0.34% (2 of 580)
hippocampus 0.53% (3 of 566)
hypothalamus 0.34% (2 of 582)
kidney 3.48% (20 of 575)
large intestine 1.74% (10 of 576)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.35% (2 of 579)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 579)
ovary 0.18% (1 of 569)
oviduct 0.0%
pancreas 0.86% (5 of 579)
peripheral nervous system 0.35% (2 of 570)
peyers patch 0.0%
pituitary gland 0.17% (1 of 575)
prostate gland 2.09% (12 of 574)
skeletal muscle 0.0%
skin 0.17% (1 of 575)
small intestine 1.57% (9 of 574)
spinal cord 0.53% (3 of 571)
spleen 0.52% (3 of 576)
stomach 2.25% (13 of 579)
striatum 0.52% (3 of 578)
submandibular gland 1.55% (2 of 129)
testis 1.04% (6 of 576)
thalamus 0.0%
thymus 0.17% (1 of 576)
thyroid gland 2.76% (16 of 580)
trachea 0.52% (3 of 579)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.23% (6 of 489)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 493)
embryo 0.2% (1 of 489)
eye 0.2% (1 of 490)
footplate 0.2% (1 of 491)
forebrain 0.2% (1 of 496)
forelimb 0.2% (1 of 493)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 493)
head 1.02% (5 of 490)
heart 0.0%
hindbrain 1.25% (6 of 480)
hindlimb 0.2% (1 of 496)
liver 0.2% (1 of 489)
lung 0.21% (1 of 485)
mandibular process 0.2% (1 of 489)
maxillary process 0.2% (1 of 488)
midbrain 0.2% (1 of 490)
nose 1.32% (1 of 76)
oral cavity 0.2% (1 of 491)
skin 0.21% (1 of 484)
spinal cord 1.43% (1 of 70)
tail 0.21% (1 of 485)
tail somite group 0.2% (1 of 490)

Associated Images

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

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Human diseases caused by Cacna1s 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.

The table below shows human diseases associated to Cacna1s by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Acute rhab... ORPHA:423
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m... ORPHA:79102
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis OMIM:188580
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887

The table below shows human diseases predicted to be associated to Cacna1s by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
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
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, High palate, Thoracic... OMIM:300232
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:208100
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Olig... ORPHA:958
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Intrauterine growth retardation, Cleft upper lip, Thin ribs, Joint dislocati... OMIM:312150
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Three M Syndrome 1
Long philtrum, Clinodactyly of the 5th finger, Mandibular prognathia, Scapular winging, Hip dislo... OMIM:273750
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Intrauterine growth retardation, Thin ribs, Joint dislocation, Increased sus... OMIM:253290
Scapuloperoneal Myopathy, X-Linked Dominant
Foot dorsiflexor weakness, Flexion contracture, Scapular winging, Skeletal muscle atrophy, Lower ... OMIM:300695
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Three M Syndrome 2
Clinodactyly, Long philtrum, Scapular winging, Prominent calcaneus, High palate, Short neck, Shor... OMIM:612921
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Isolated Klippel-Feil Syndrome
Ectopic anus, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal cran... ORPHA:2345
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Shor... OMIM:601559
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Recurrent fractu... ORPHA:1486
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Scapular winging, Ge... OMIM:305620
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Myopathy, Distal upper limb amyotro... OMIM:614065
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Long philtrum... OMIM:616549
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Abnormality of the vertebral column, Camptodactyly of finger, Intrauterine growth... OMIM:610758
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259420
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Kagami-Ogata Syndrome
Flexion contracture, Coxa valga, Diastasis recti, Long philtrum, Thin ribs, Micrognathia, Hypopla... OMIM:608149
Bethlem Myopathy 1
Skeletal muscle atrophy, Limb-girdle muscle weakness, Ankle flexion contracture, Myopathy, Tortic... OMIM:158810
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Micrognathia, Inguinal hernia, Scoliosis, Metaphyseal widening, Genu va... OMIM:182212
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Multiple prenatal fractures, Skeletal muscle atrophy, Abnor... ORPHA:171430
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Hyperlysinemia, Mitochondrial lysine transport defect OMIM:238710
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cleft palate, Hypoplastic p... OMIM:260660
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Long philtrum, Radial head subluxation, 11 pairs of ribs, Spinal ... OMIM:271640
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th ... ORPHA:1388
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Kyphosis, Generalized dystonia, Hypoplastic scapulae, Macroglossia, Micromelia, Scolio... ORPHA:79107
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Spinal cord compression, Hyperlordosis, Abnor... ORPHA:2522
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short thorax, Short palm, Hydro... ORPHA:85166
Cole-Carpenter Syndrome 2
Narrow iliac wing, High palate, Lambdoidal craniosynostosis, Kyphosis, Osteopenia, Coronal cranio... OMIM:616294
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Narrow mouth, High palate, Small hypothenar eminence, Osteopenia, Dolichocephaly, Thin ribs, Lumb... ORPHA:2463
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Short neck, Patellar hypoplasia, Intrauterine growth retardation, Long philtrum, O... OMIM:211920
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Spinal cord compression, Abnormal joint morphology, ... ORPHA:485
Acrorenal-Mandibular Syndrome
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Oligohydramnios, Hemivertebrae, Hip d... OMIM:200980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Plagiocephaly, Craniosynostosis, Thin ribs, Micrognathia, Arthrogryposis multiplex... OMIM:618265
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Microdontia, Micrognathi... OMIM:224690
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, High, narrow palate, Short middle phalanx of the 2nd fing... OMIM:119600
Fibrochondrogenesis
Brachydactyly, Narrow mouth, Plagiocephaly, Short neck, Abnormal form of the vertebral bodies, Sh... ORPHA:2021
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Do... OMIM:607326
Scarf Syndrome
Craniosynostosis, Short neck, Long philtrum, Diastasis recti, Short sternum, Enamel hypoplasia, A... ORPHA:3134
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Myotubular Myopathy With Abnormal Genital Development
High palate, Thin ribs, Joint hypermobility, Polyhydramnios, Myopathy, Retrognathia, Neonatal dea... OMIM:300219
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Mucolipidosis Ii Alpha/Beta
Long philtrum, Diastasis recti, Macroglossia, Inguinal hernia, Abnormal rib cage morphology, Meta... OMIM:252500
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Microgna... OMIM:108720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Diastasis recti, Metaphyseal spurs, ... ORPHA:96334
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow mouth, High palate, Flexion contracture, Scapulohumeral synostosis, Dislocated radial head... OMIM:602471
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Intrauterine growth retardation, Rhizomelia, Thin ribs, Metaphyseal c... ORPHA:163966
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Small hand, T... OMIM:170390
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Long philtrum, Tracheomalacia, Fibular hypoplasia... OMIM:114290
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Anauxetic Dysplasia 3
Spinal cord compression, Squared iliac bones, Retrognathia, Narrow chest, Genu valgum, Brachydact... OMIM:618853
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Micrognathia, Inguinal hernia, Scoliosis, Dysplastic patella, Camptodactyly of toe... OMIM:265000
Nemaline Myopathy 9
High palate, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Cleft palate OMIM:615731
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Club... ORPHA:73230
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Congenital Muscular Dystrophy, Ullrich Type
Increased variability in muscle fiber diameter, Micrognathia, Scoliosis, Hip dislocation, Slender... ORPHA:75840
Van Den Ende-Gupta Syndrome
Everted lower lip vermilion, Distal ulnar hypoplasia, High, narrow palate, Camptodactyly of toe, ... OMIM:600920
Turnpenny-Fry Syndrome
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Mandibular prognathia, Small hand... OMIM:618371
Scarf Syndrome
Lambdoidal craniosynostosis, Short neck, Long philtrum, Diastasis recti, Short sternum, Enamel hy... OMIM:312830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micromelia, Fro... ORPHA:440354
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Congenital hip dislocati... ORPHA:93333
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Abnormal rib morp... ORPHA:3268
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Hallermann-Streiff Syndrome
Tracheomalacia, Everted lower lip vermilion, Micrognathia, High, narrow palate, Abnormal rib cage... OMIM:234100
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Arthrogryposis, Distal, Type 1C
Bifid uvula, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly of toe, Retrognathia, Cleft... OMIM:619110
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Cleft upper lip, Short ribs, Epiphyseal stippling, Mil... OMIM:308050
Weaver Syndrome
Accelerated skeletal maturation, Finger syndactyly, Long philtrum, Joint stiffness, Sandal gap, D... ORPHA:3447
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Abnormal rib morphology, Micrognathia, Pectus excavatum, Joint hypermobili... OMIM:602196
Tarp Syndrome
Tongue nodules, Clinodactyly, High palate, Intrauterine growth retardation, Cutaneous syndactyly,... OMIM:311900
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Tapered finger, Micrognathia, High, narrow palate... ORPHA:536516
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Spina bifida, Mandibular prognathia, Hallux valgus, Sh... ORPHA:1327
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Generalized osteoporosis, Long philtrum, 11 pairs of ribs, Sandal gap, Micr... OMIM:245600
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Dolichocephaly, Asymmetry of the thorax, Delayed clos... OMIM:604922
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Micromelia, Ascites, Narrow chest, Cleft palate, Brachydactyly, Bowing ... OMIM:614091
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Abnormal mitochondrial morphology, Jaundice, Elevated hepatic transaminase, Incr... OMIM:618528
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Micrognathia, Inguinal hernia, Scoliosis, Genu ... OMIM:618363
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Hypopla... OMIM:210720
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Craniofrontonasal Dysplasia
Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Brachydactyly, High palate, Hand polydacty... ORPHA:1520
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, ... ORPHA:666
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Clinodactyly o... ORPHA:3104
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Asymmetry of the mouth, Absent distal phalange... OMIM:186500
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Micrognathia, Scoliosis, Metaphyseal widening, Short di... ORPHA:1826
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Cleft palate, Long upper lip, Hip dislocation, High palat... ORPHA:93359
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Kyphosis, Postaxial foot polydactyly, Short sternum, Supernumerary t... OMIM:258850
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Osteopenia, Delayed eruption of teeth, Lipoatrophy, Micrognathia, M... OMIM:601812
Klhl9-Related Early-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Intrinsic hand muscle at... ORPHA:399081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Dolichocephaly, Short femoral neck,... OMIM:618395
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Cornelia De Lange Syndrome 1
Long philtrum, Clinodactyly of the 5th finger, Widely spaced teeth, Micrognathia, High, narrow pa... OMIM:122470
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Nemaline Myopathy 2
Long philtrum, Increased variability in muscle fiber diameter, Limb muscle weakness, Abnormal rib... OMIM:256030
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Abnormality of finger, Long philtrum, Radial h... ORPHA:536471
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Slender long bone, Long philtrum, Short neck, Rhizomelia, ... OMIM:602613
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... OMIM:311895
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Dystonia, Kyphosis, Short neck, Skeletal muscle atrophy, Rocker bottom foot, Neonata... OMIM:611890
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, High palate, Inflammatory myopathy, Skeletal muscle atrophy, Short ribs, Spinal musc... ORPHA:1145
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Intrauterine growth retardation, Thin ribs, Carious teeth, Decreased sk... ORPHA:93324
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Spina bifida, Patell... OMIM:274000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Decreased cranial ... OMIM:151210
Diastrophic Dysplasia
Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dysplasia, Cleft palate, Bowing... ORPHA:628
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Lamb-Shaffer Syndrome
Thoracic kyphosis, Micrognathia, Scoliosis, Fused cervical vertebrae, Hip dysplasia, Optic atroph... ORPHA:530983
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, High palate, Intrauterine growth retardation, Ol... OMIM:600325
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Minimal subcutaneous fat, Clinodactyly of the 5th finger, Micrognathia, Thin upper lip vermilion,... OMIM:210730
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Elevate... ORPHA:352470
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Wris... ORPHA:2774
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Cone-shaped epiphysis, Scoliosis, Mandibular prognathia, Brachydactyly... ORPHA:2511
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hydrops fetalis, Hypoplastic scapulae, Hypoplasia of ... OMIM:200600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Marshall-Smith Syndrome
Prominent occiput, Clinodactyly of the 5th finger, Microdontia, Scoliosis, Retrognathia, Bullet-s... OMIM:602535
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thi... OMIM:300863
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... OMIM:613848
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Skeletal muscle atrophy, Hyperlordosis, Scoliosis, Myopathy, Slender long bone, ... ORPHA:262
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Rib osteolysis, Micrognathia, Scoliosis, Flexion contracture, Osteolytic defects of... OMIM:614008
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Vertebral compression fracture... OMIM:617952
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Donnai-Barrow Syndrome
Short sternum, Intestinal malrotation, Congenital diaphragmatic hernia, Midface retrusion, Omphal... OMIM:222448
Dystonia, Juvenile-Onset
Cleft upper lip, Achalasia, Generalized dystonia, Hypoplastic scapulae, Kyphoscoliosis, Cleft palate OMIM:607371
Fetal Akinesia Deformation Sequence 1
Long philtrum, Camptodactyly of finger, Micrognathia, High, narrow palate, Ulnar deviation of the... OMIM:208150
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Spina bifida occulta, Hypoplastic pelvis, ... ORPHA:2840
Coffin-Lowry Syndrome
Narrow iliac wing, Tapered finger, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, L... ORPHA:192
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Decreased nerve conduction velocity, Polyhydramnios, Death in inf... OMIM:615368
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor weakness, Flexio... OMIM:619216
Weaver Syndrome
Clinodactyly, Long philtrum, Diastasis recti, Flared humeral metaphysis, Radial deviation of fing... OMIM:277590
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, High palate, Short neck, Delayed eruption of teeth, L... ORPHA:2563
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the clavicles, Micrognathia, Spina bifida, Aplasia/Hypoplasia of the ribs, ... ORPHA:2839
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Hamartoma of tongue, Inguinal hernia, Short toe, Median cleft lip and palate, As... OMIM:269860
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fixed elbow flexion, Fibular hypoplasia, Dislocated radial he... ORPHA:166016
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Short neck, Elbow flexion contracture, Trismus, Long philtrum, Microgn... OMIM:277720
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Ingu... OMIM:610915
Three M Syndrome 3
Thick vermilion border, Short neck, Short thorax, Long philtrum, Increased vertebral height, Doli... OMIM:614205
Congenital Disorder Of Glycosylation, Type Iia
Coxa valga, Short neck, Osteopenia, Thoracolumbar kyphoscoliosis, Macrodontia, Open mouth, Everte... OMIM:212066
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased fibular diameter, Decreased skull ossification, Micrognath... OMIM:616897
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Osteoglophonic Dysplasia
Long philtrum, Pseudoarthrosis, Inguinal hernia, Cloverleaf skull, Mandibular prognathia, Bowing ... OMIM:166250
Wieacker-Wolff Syndrome, Female-Restricted
Long philtrum, Scoliosis, Narrow chest, Cleft palate, Hip dislocation, Flexion contracture, Drool... OMIM:301041
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Micrognathia, Scoliosis, Narrow g... ORPHA:93316
Rafiq Syndrome
Short philtrum, Flexion contracture, Short neck, Dolichocephaly, Clinodactyly of the 5th finger, ... OMIM:614202
Childhood-Onset Nemaline Myopathy
High palate, Nemaline bodies, Scapular winging, Flexion contracture, Narrow chest, Increased vari... ORPHA:171439
Fetal Akinesia Deformation Sequence 4
High palate, Flexion contracture, Kyphosis, Short neck, Skeletal muscle atrophy, Rocker bottom fo... OMIM:618393
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Cervical vertebral bodies with decreased ant... OMIM:606842
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Avascular necrosis, Joint dislocation, Cartilage destruction, Abnormalit... ORPHA:2380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Micrognathia, Delayed ... ORPHA:163649
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Melnick-Needles Syndrome
Micrognathia, Anterior concavity of thoracic vertebrae, Narrow chest, Genu valgum, Cleft palate, ... OMIM:309350
Tarp Syndrome
Clinodactyly, Abnormal duodenum morphology, Micrognathia, Scoliosis, Cleft palate, Pierre-Robin s... ORPHA:2886
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Thoracic scoliosis, High palate, Hyperextensible skin, Cellulitis, Ventral ... OMIM:618000
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Sh... OMIM:611307
Momo Syndrome
High palate, Short neck, Long philtrum, Delayed eruption of teeth, Short sternum, Thick lower lip... OMIM:157980
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Micrognathia, Tong... OMIM:264180
Kenny-Caffey Syndrome, Type 1
Short palm, Intrauterine growth retardation, Delayed closure of the anterior fontanelle, Thin rib... OMIM:244460
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormal p... ORPHA:2097
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Abnormal rib morphology, High, narrow palate, Scoliosis, Narrow chest, Abnormality ... ORPHA:95699
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Malan Overgrowth Syndrome
Narrow mouth, High palate, Accelerated skeletal maturation, Plagiocephaly, Pectus excavatum, Fron... ORPHA:420179
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Tracheomalacia, Short neck, Fibula... ORPHA:140
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Fibular hypoplasia, Increased fibular diameter, Micromelia, Narrow ... ORPHA:3144
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Asymmetric Short Stature Syndrome
Micrognathia, Frontal bossing, Dental crowding, Hemihypotrophy of lower limb, Fused cervical vert... OMIM:108450
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Bifid uvula, Micrognathia, Abnormal rib cage morphology, Ulnar deviation o... OMIM:114300
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Abnormal motor nerve conduction velocity, Muscle fiber necrosis, Increased variabili... OMIM:614399
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, 2-3 toe syndactyly, Skeletal muscle atrophy, Tapered finger, Li... OMIM:218000
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Prominent occiput, Short neck, Phocomelia, Intrauterine growth retarda... OMIM:266910
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Joint hyperflexibility, Congenital diaphragmatic hern... ORPHA:1488
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal palate morphology, Abnormality of pelvic girdle bone morphology, Intrauterine growth ret... ORPHA:1506
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Thin ribs, EMG:... ORPHA:169189
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Micrognathia, Decreased motor nerve conduction velocity, Scoliosis, Smoo... OMIM:615419
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th fing... ORPHA:508498
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Long philtrum, Joint laxity, Cone-shaped epiphysis, Pseudoepiph... OMIM:157800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Overlapping fingers, Congenital hip dislo... OMIM:618291
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Prominent occiput, Thoracic kyphoscoliosis, Clinodactyly, Short philtrum, Dolichocephaly, Increas... OMIM:613385
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture OMIM:618323
Myopathy, Spheroid Body
Myopathy, Proximal amyotrophy, Skeletal muscle atrophy OMIM:182920
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Myopathy, Congenital, Bailey-Bloch
High palate, Flexion contracture, Skeletal muscle atrophy, Micrognathia, Midface retrusion, Brach... OMIM:255995
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Type... OMIM:113000
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Lipodystrophy, Hyperextensible skin, Flexion contracture, Long toe, Skeletal muscle... ORPHA:75496
Squalene Synthase Deficiency
2-3 toe syndactyly, Intrauterine growth retardation, Optic nerve hypoplasia, Micrognathia, Knee f... OMIM:618156
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Bifid uvula, Postaxial foot polydactyly, Short sternum, Lobulated tongue, Hama... ORPHA:2752
Myasthenic Syndrome, Congenital, 14
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Distal j... OMIM:616228
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Micrognathia, Pectus excavatum, Frontal bossing, Scolio... ORPHA:1695
Marshall-Smith Syndrome
Bowing of the long bones, Accelerated skeletal maturation, Craniosynostosis, Joint hyperflexibili... ORPHA:561
Dysostosis, Stanescu Type
Macroglossia, Micromelia, Scoliosis, Massively thickened long bone cortices, Hypoplasia of the zy... ORPHA:1798
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Asymmetry of the thorax, Micrognathia, High, narrow palate, Scoliosis, Retrognathia,... ORPHA:2780
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Short thorax, Intrauterine growth retardation... ORPHA:2655
Aarskog-Scott Syndrome
Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Inguinal hernia, Smal... ORPHA:915
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Lujan-Fryns Syndrome
Brachydactyly, High palate, Short philtrum, Abnormality of the dentition, Micrognathia, Pectus ex... ORPHA:776
Wrinkly Skin Syndrome
Long philtrum, Microdontia, Inguinal hernia, Scoliosis, Neonatal wrinkled skin of hands and feet,... OMIM:278250
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Joint stiffness, Aplastic cla... ORPHA:1512
Typical Nemaline Myopathy
Genu varum, Increased variability in muscle fiber diameter, Micrognathia, Scoliosis, Arthrogrypos... ORPHA:171436
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Hyperextensible skin, Joint laxity, Lon... OMIM:615349
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Agenesis of permanent teeth, Hyperextensible skin, Periodontitis... ORPHA:75392
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Cleft upper lip, Short neck, Scoliosis, Sprengel anomaly, Fused ... OMIM:214300
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Scoliosis, Large hands, Narrow mouth, Flexion contracture, Intrauterine growth reta... OMIM:264090
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Spastic Paraplegia 18, Autosomal Recessive
High palate, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:611225
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Abnormality of pelvic girdle bone morphology, Dystonia, Shoulder girdle... OMIM:167320
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Clinodactyly, High palate, Flexion contracture, Kyphosis, Short neck, Dolichoc... ORPHA:178148
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Intrauterine growth retardation, Rhabdomyosarcoma, Short sternum, Long philtrum, Micr... OMIM:257300
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Combined Oxidative Phosphorylation Deficiency 38
Abnormal mitochondrial morphology, Decreased activity of mitochondrial complex IV OMIM:618378
Man1B1-Cdg
Short philtrum, Short neck, 2-3 toe syndactyly, Resting tremor, Dolichocephaly, Clinodactyly of t... ORPHA:397941
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Bifid distal phalanx of toe, Micrognathia, Macroglossi... OMIM:268310
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Scoliosis, Patellar dislocation, Patellar subluxation, Bowin... OMIM:121050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Thin ribs, Optic nerve hypoplasia, Flexion contracture OMIM:614833
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Pierpont Syndrome
Short neck, Joint laxity, Everted lower lip vermilion, Widely spaced teeth, Abnormal subcutaneous... ORPHA:487825
Spinocerebellar Ataxia-Dysmorphism Syndrome
Hyperextensible skin, Dolichocephaly, Spina bifida occulta, Genu recurvatum, Cubitus valgus, Slen... ORPHA:1185
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Thin ribs, Joint hypermobility, Polyhydramnios, Retrognathia ORPHA:456328
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Short neck, Decreased skull ossification, Congenital diaphragmatic hernia, M... OMIM:263210
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Mandibuloacral Dysplasia Progeroid Syndrome
Long philtrum, Sandal gap, Decreased fibular diameter, Intra-oral hyperpigmentation, Micrognathia... OMIM:619127
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Abnormal palate morphology, Skeletal muscle atrophy, Craniofacial h... ORPHA:3068
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Myopathy, Congenital, With Tremor
Narrow mouth, High palate, Flexion contracture, EMG: myopathic abnormalities, Tongue tremor, Micr... OMIM:618524
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Weakness of f... OMIM:610687
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:616313
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Macroglossia, Sacrococcygeal teratoma, Short 1st metacarpal, Short neck, Short ster... OMIM:269150
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Clinodactyly of the 5th finger, Thick lower lip vermilion, Microgna... OMIM:179613
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Short greater sciatic notch, Diastasis recti, Macroglossia, Ing... OMIM:312870
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Myopathy, X-Linked, With Postural Muscle Atrophy
Short neck, Scapular winging, Flexion contracture, Back pain, Spinal rigidity, Rimmed vacuoles OMIM:300696
De Barsy Syndrome
Athetosis, Generalized joint laxity, Inguinal hernia, Decreased muscle mass, Small, conical teeth... ORPHA:2962
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Plagiocephaly, Kyphosis, Abnormal form of the vertebral bodies, Hy... ORPHA:2916
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Kyphosis, Intrauterine growth retardation, Micrognathia, Inguinal h... OMIM:615834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Congenital muscular dystrophy, Shoulder girdle muscle atro... OMIM:606612
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Tongue atrophy, Nemaline bodies, Flexion contracture, Foot dorsiflex... OMIM:617114
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Mandibular prognathia, C... OMIM:101200
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Myopathy, Myofibrillar, 8
Achilles tendon contracture, High palate, Nemaline bodies, Generalized amyotrophy, Distal joint l... OMIM:617258
Temple Syndrome
Clinodactyly, High palate, Bifid uvula, Flexion contracture, Intrauterine growth retardation, Sho... OMIM:616222
Cutis Laxa, Autosomal Recessive, Type Iia
Narrow mouth, High palate, Lipodystrophy, Intrauterine growth retardation, Long philtrum, Carious... OMIM:219200
Nemaline Myopathy 4
High palate, Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Kyphosis, Scoliosis, Optic disc pallor, Optic atrophy OMIM:617087
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Coffin-Siris Syndrome 1
Long philtrum, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, Clinodactyly o... OMIM:135900
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Long philtrum, Tapered finger, Generalized joint laxity, Inguinal hernia, Scol... ORPHA:2953
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, Micrognathia, High, narrow palate, Scoliosis, Mandibular prognathi... ORPHA:435638
Fryns Syndrome
Long philtrum, Short thumb, Tented upper lip vermilion, Cleft palate, Cleft upper lip, Short neck... OMIM:229850
Cerebellofaciodental Syndrome
Short neck, Tapered finger, Scoliosis, Slender long bone, Dental malocclusion, Taurodontia, Macro... OMIM:616202
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Slender long bone, Hammertoe, Intrinsic hand muscle atrophy, Hand muscle weakness, Distal lower l... ORPHA:488333
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Micrognathia, Brachycephaly, Prominent metopic ridge, Broad phalanx, Broad metata... OMIM:275595
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Vertebral compression fracture, Recurrent fractures, Tibial bowing, Pe... OMIM:231070
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Flexion contracture, Myofibrillar myopathy OMIM:615348
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Abnormal enchondral ossification, Joint stiffnes... ORPHA:2635
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper li... ORPHA:99013
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, High palate, Short philtrum, Everted lower lip verm... ORPHA:1387
Uruguay Faciocardiomusculoskeletal Syndrome
Dislocation of toes, Kyphosis, Congenital hip dislocation, Everted lower lip vermilion, Scoliosis... OMIM:300280
Apert Syndrome