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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

MicroCT E18.5

Embryo reconstruction

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Auditory Brain Stem Response

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

9 Images

Electroretinography

Rod waveform (pdf format)

4 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
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... ORPHA:423
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... 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
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra... ORPHA:457050
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert... ORPHA:958
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... OMIM:228520
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, E... OMIM:312150
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... OMIM:273750
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Schneckenbecken Dysplasia
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... OMIM:269250
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, E... OMIM:253290
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... ORPHA:2345
Three M Syndrome 2
Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Long philtrum, Scapul... OMIM:612921
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... ORPHA:1452
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh... OMIM:620369
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly... OMIM:618265
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, Micrognathia, Short neck, Limitatio... ORPHA:1486
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture,... OMIM:616549
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... OMIM:305620
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... OMIM:602471
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... OMIM:182212
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Wormian bones, Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple ... OMIM:259420
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Kagami-Ogata Syndrome
Omphalocele, Frontal bossing, Inguinal hernia, Long clavicles, Diastasis recti, Polyhydramnios, M... OMIM:608149
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowin... OMIM:601559
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... OMIM:200980
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micro... ORPHA:79107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... OMIM:271640
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Short thorax, Abnorma... ORPHA:85166
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... ORPHA:2463
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphoscoliosis, Adducted thumb, Elbow ... OMIM:610758
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... ORPHA:2522
Cole-Carpenter Syndrome 2
Microretrognathia, Frontal bossing, Turricephaly, Osteopenia, Wide cranial sutures, Recurrent fra... OMIM:616294
Catel-Manzke Syndrome
Camptodactyly of finger, Micrognathia, Pectus excavatum, Metatarsus valgus, Joint stiffness, Radi... ORPHA:1388
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Scarf Syndrome
Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo... ORPHA:3134
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... OMIM:224690
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Increased co... ORPHA:171430
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... OMIM:252500
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy... OMIM:300219
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Micromel... OMIM:200600
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior... ORPHA:2021
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal... OMIM:601812
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... OMIM:600920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Polyhydramnios, Micrognat... ORPHA:96334
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... ORPHA:163966
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... OMIM:151210
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr... OMIM:108720
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, Ce... OMIM:114290
Anauxetic Dysplasia 3
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco... OMIM:618853
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Thanatophoric Dysplasia, Type Ii
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Polyhydramnios, Micromelia, ... OMIM:187601
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Short neck, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... ORPHA:75840
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Micrognathia, Shor... OMIM:618393
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... ORPHA:73230
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... OMIM:234100
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... OMIM:312830
Thanatophoric Dysplasia, Type I
Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small... OMIM:187600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... ORPHA:440354
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... OMIM:619451
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma... ORPHA:3268
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Pelviscapular Dysplasia
Frontal bossing, Redundant neck skin, Hypoplastic scapulae, Congenital hip dislocation, Short fem... ORPHA:93333
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Accelerated skeletal matur... OMIM:245600
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... OMIM:311900
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Polyhydramnios, Brachycephaly, Pectus carinatum, Downturn... OMIM:618371
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... ORPHA:370010
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Brachycephaly, Orofacial cleft, Hi... ORPHA:1520
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Polyhydramnios, Centrally nucleated skeleta... ORPHA:169189
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, Narrow ches... OMIM:614091
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Weaver Syndrome
Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Redundant skin, Microgna... ORPHA:3447
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... OMIM:602535
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, High, narrow palate, ... OMIM:122470
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pectus carinatum, Do... ORPHA:1327
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... OMIM:258850
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... ORPHA:1826
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... ORPHA:399081
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ... OMIM:208150
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... OMIM:308050
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... ORPHA:666
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,... OMIM:311895
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Lamb-Shaffer Syndrome
Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thick vermilion border, Tho... ORPHA:530983
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Nonimmune hydrops fetalis, Recurrent fractu... OMIM:166210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia... OMIM:611890
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micro... ORPHA:628
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoarthritis, General... OMIM:618000
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Pectus excava... OMIM:219150
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Ce... OMIM:118100
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... OMIM:620076
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Ingui... OMIM:600325
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Polyhydramnios, Micrognathia, Wrist swelling, Limitation of joint mobili... ORPHA:2774
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narr... OMIM:269860
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... ORPHA:93324
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Intestinal malrotation, Congenital diaphragmatic hernia, ... OMIM:222448
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Generalized dystonia, Oculogyric crisis, Femoral retroversion, Cleft upper ... OMIM:607371
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ri... OMIM:300863
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... ORPHA:2840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, B... OMIM:274000
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Lethal Congenital Contracture Syndrome 5
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Decreased nerve con... OMIM:615368
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... OMIM:617952
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebra... ORPHA:192
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Nemaline Myopathy 9
Polyhydramnios, Micrognathia, Cleft palate, High palate, Narrow chest, Scoliosis, Arthrogryposis ... OMIM:615731
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Flat occiput, Hyperlordosis, Pectus excavatum, Abnormal zyg... ORPHA:2511
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Increased susceptibility to fr... OMIM:615349
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Thin upper lip vermilion, Mic... OMIM:615419
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Frontal bossing, Decreased muscle mass, Congenital hip dislocation, Bowing of the lon... OMIM:612940
Three M Syndrome 3
Frontal bossing, Short neck, Hyperlordosis, Increased vertebral height, Dolichocephaly, Short tho... OMIM:614205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Short neck, Delayed skeletal maturation, Thick lower ... OMIM:157980
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Micrognathia, Beaded ribs, Short neck, Multiple prenatal fractures, F... OMIM:616897
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Thoracic kypho... ORPHA:163649
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl... ORPHA:2563
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Micrognathia, Knee flexion contracture, Pectus carinatum, Oligodontia, High palate, Clinodactyly ... OMIM:210730
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Wieacker-Wolff Syndrome, Female-Restricted
Polyhydramnios, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narr... OMIM:301041
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture, Lower... OMIM:611225
Rafiq Syndrome
Joint laxity, Thin upper lip vermilion, Flat occiput, Joint hypermobility, Short neck, Flexion co... OMIM:614202
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Macrodontia, Thoracolumbar kyphoscoliosis, Proximal placement ... OMIM:212066
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy, Abnormality of the dentition, Cartilage destruction, ... ORPHA:2380
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... ORPHA:95699
Malan Overgrowth Syndrome
Optic disc pallor, Frontal bossing, Accelerated skeletal maturation, Pectus excavatum, Scaphoceph... ORPHA:420179
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Trismus,... OMIM:277720
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Delaye... OMIM:244460
Cooper-Jabs Syndrome
Frontal bossing, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal... ORPHA:1488
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema, Lateral clavicle hook, Micromelia, Short neck, Accelerated skeletal m... ORPHA:3144
Pseudodiastrophic Dysplasia
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short ne... OMIM:264180
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Accelerated skeletal maturation, Ca... OMIM:277590
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Nemaline Myopathy 2
Skeletal muscle atrophy, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:256030
Mosaic Variegated Aneuploidy Syndrome 1
Micrognathia, Short neck, Embryonal rhabdomyosarcoma, Cleft palate, Brachycephaly, Duodenal atres... OMIM:257300
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Micrognathia, Kyphosis, Deep philtrum, Brachycephaly, Wide mouth, Umbilical hern... OMIM:615834
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Pie... ORPHA:2886
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Frontal bossing, Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morpholo... ORPHA:1506
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Pectus excavatum... OMIM:614399
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Grant Syndrome
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r... ORPHA:2097
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Frontal bossing, Lumbar hyperlordosis, Dolichocephaly, Pe... OMIM:613385
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contrac... OMIM:114300
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, O... ORPHA:561
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Ab... ORPHA:508498
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Non-Distal Duplication 10Q
Frontal bossing, Micrognathia, Pectus excavatum, Brachycephaly, Joint hyperflexibility, Everted l... ORPHA:1695
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... ORPHA:1512
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... OMIM:256050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... OMIM:278250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... OMIM:618363
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Hyperextensible skin, Sh... ORPHA:915
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Osteopenia, Arachnodactyly, Lipodystrophy, Kyphoscoliosis, Fle... ORPHA:75496
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
Achondrogenesis, Type Ii
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, F... OMIM:200610
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycep... ORPHA:1798
Typical Nemaline Myopathy
Polyhydramnios, Micrognathia, Short neck, Limb-girdle muscle weakness, Flexion contracture, High ... ORPHA:171436
Squalene Synthase Deficiency
Optic nerve hypoplasia, Micrognathia, Elbow flexion contracture, Retrognathia, 2-3 toe syndactyly... OMIM:618156
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tapered finger, Hypoplasia of... OMIM:218000
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ... ORPHA:75392
Contractural Arachnodactyly, Congenital
Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, Pectus carinatum, ... OMIM:121050
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Arachnodactyly, Micrognathia, Pectus excavatum, Hypopla... ORPHA:776
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Proximal placement of thumb, Short neck, Prominent fi... OMIM:229850
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... ORPHA:3104
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Polyhydramnios, Microg... OMIM:263210
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Redundant skin, Polyhydramnios, Micromelia, Joint stiffness, A... ORPHA:2655
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc... ORPHA:2780
Pierpont Syndrome
Joint laxity, Thin upper lip vermilion, Short neck, Short toe, Abnormal subcutaneous fat tissue d... ORPHA:487825
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... OMIM:610687
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Polyhydramnios, Thin ribs, High palate, Retrognathia, Joint hypermobility ORPHA:456328
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Downturned corners of mouth, High palat... OMIM:617796
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, High palat... OMIM:620113
Man1B1-Cdg
Thin upper lip vermilion, Resting tremor, Flat occiput, Frontal bossing, Joint hypermobility, Sho... ORPHA:397941
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Brachyce... ORPHA:2962
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Lumbar hyperlordosis, Dental crowding,... ORPHA:313892
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs OMIM:614833
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Micrognathia, Pectus excavatum, Abnormality of the dentition, Thick low... OMIM:179613
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Postural tremor, Micrognathia, Spinal rigidity, Flexion c... OMIM:618524
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... OMIM:615290
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus... OMIM:617333
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Optic atrophy, Reduced bone mineral density, Downturned corners of mouth, Slende... ORPHA:1185
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metata... OMIM:617137
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, High palate, Scoliosis, Dolichocep... ORPHA:178148
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Congenital diaphragmatic hernia, Accelerated skeletal matu... OMIM:312870
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplasia of first rib... OMIM:269150
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Death ... OMIM:619127
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporos... OMIM:617190
Childhood-Onset Nemaline Myopathy
Scapular winging, Polyhydramnios, Micrognathia, Spinal rigidity, Flexion contracture, Increased m... ORPHA:171439
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Hand muscle weakness, Intrinsic hand muscle atrophy, Slender long bone, Hammertoe, Distal lower l... ORPHA:488333
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... ORPHA:435638
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Frontal bossing, Lipodystrophy, L... OMIM:269880
Cutis Laxa, Autosomal Recessive, Type Iia
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Redundant skin, Cari... OMIM:219200
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... OMIM:135900
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Macrodo... ORPHA:2916
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe... OMIM:101200
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morpholog... ORPHA:3068
Arterial Tortuosity Syndrome
Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pec... OMIM:208050
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... OMIM:263650
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... OMIM:617114
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia... ORPHA:93267
Lateral Meningocele Syndrome
Decreased muscle mass, Dental crowding, Micrognathia, Short neck, High palate, Vertebral fusion, ... OMIM:130720
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Clinodactyly, Kyphosis, Abnorm... ORPHA:1724
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narrow... OMIM:264090