Gene Summary

Name:
dynamin 2
Synonyms:
Dyn2,  b2b2159Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small superior vagus ganglion Dnm2tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased mean corpuscular hemoglobin Dnm2tm1.1(KOMP)Vlcg HET   Early adult 5.36×10-05
hydrometra Dnm2tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to tooth bud stage Dnm2tm1.1(KOMP)Vlcg HOM   E12.5 0.00
enlarged uterus Dnm2tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased mean corpuscular volume Dnm2Dnm2 HET Early adult 5.15×10-05
embryonic lethality prior to organogenesis Dnm2tm1.1(KOMP)Vlcg HOM   E9.5 0.00
preweaning lethality, incomplete penetrance Dnm2tm1.1(KOMP)Vlcg HOM   Early adult 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)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 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)
axial skeleton 1.79% (1 of 56)
brain 1.31% (6 of 457)
central nervous system ganglion 1.67% (1 of 60)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
gut 1.82% (1 of 55)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
nose 1.45% (1 of 69)
oral cavity 0.22% (1 of 465)
skeleton 1.35% (1 of 74)
skin 0.22% (1 of 454)
spinal cord 1.64% (1 of 61)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)
trachea 1.85% (1 of 54)
urinary system 1.96% (1 of 51)

Associated Images

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

Embryo LacZ

LacZ images wholemount

6 Images

Adult LacZ

LacZ Images Section

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Dnm2 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 Dnm2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Welander Distal Myopathy
Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:300717
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Gne Myopathy
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... ORPHA:602
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Pro... OMIM:609200
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated ci... OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... OMIM:609524
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... ORPHA:603
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Flexion contracture, ... OMIM:609456
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Weakness of orb... OMIM:500002
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... OMIM:231060
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Increased variability in muscle fiber diameter, Type 1 m... OMIM:619042
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase concentration, Neck... OMIM:616209
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration, L... OMIM:254130
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flexor weakness, In... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... OMIM:617072
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Abdominal wall muscle weakness, Muscle fiber ... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulatin... OMIM:612937
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle weakness, Distal muscle weakness, First dorsal interossei muscle a... OMIM:600794
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Distal amyotrophy, Muscle weakness, Mildly elevated creatine kinase, Skel... OMIM:614369
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase... OMIM:601846
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Encephalocele, Cleft palate, Tetralogy of Fallot ORPHA:217
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Neck muscle weakness OMIM:614321
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Gowers sign, Elevated circulating creatine kinase concentration, Proxima... OMIM:618135
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... OMIM:300696
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Calf muscle hypertrophy, Elevated circulati... ORPHA:280333
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... ORPHA:1878
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal muscle weakness in lower... OMIM:619566
Myopathy, Distal, Infantile-Onset
Distal muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concentrati... OMIM:160300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Elevated circulat... OMIM:616052
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... OMIM:617760
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy OMIM:609500
Myopathy, Myosin Storage, Autosomal Dominant
Scapuloperoneal weakness, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle we... OMIM:608358
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... ORPHA:399086
Myopathy, Centronuclear, 1
Proximal muscle weakness, Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnorm... OMIM:160150
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... ORPHA:399081
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... OMIM:160500
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Elevated ... OMIM:616924
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Elevated circulating creatine... OMIM:609452
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Mildly elevated creatine kinase, M... OMIM:614065
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... OMIM:618138
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness OMIM:618197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:603511
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness, Skeletal muscle atrophy, Res... OMIM:300816
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased serum pyruvate, Elevated circulating c... OMIM:500009
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Anencephaly, Ventricular septa... OMIM:611134
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Muscle weakness OMIM:612539
Merrf
Optic atrophy, Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Muscular Dystrophy, Congenital, 1B
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Diaphragmatic weakness, Eleva... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Increased variabilit... OMIM:618992
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Distal Nebulin Myopathy
Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Weakness of ... ORPHA:399103
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Muscle weakness, Increased serum pyruvate, Myopathy OMIM:545000
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... OMIM:616228
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Distal muscle weakness, Elevated circulating creatine kinase concentration, Progressive external ... OMIM:617070
Dpm3-Cdg
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... ORPHA:263494
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... OMIM:253700
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... OMIM:607855
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Generalized muscle weakness, Increased variability in muscle fiber diam... ORPHA:238329
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... OMIM:609285
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Adenomyosis
Adenomyosis OMIM:600458
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Myopathy, Spheroid Body
Broad-based gait, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... ORPHA:598
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bethlem Myopathy 1
Torticollis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Distal m... OMIM:158810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weak... OMIM:613818
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased ... ORPHA:86812
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Elevated circulating creatine kinase concentration, Myopathy, Distal amyo... OMIM:606768
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy,... ORPHA:353
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... OMIM:167320
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Spinal muscular atro... OMIM:615048
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... OMIM:613954
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... ORPHA:363444
Nemaline Myopathy 7
Nemaline bodies, Gowers sign, Weakness of facial musculature, Minicore myopathy, Fatty replacemen... OMIM:610687
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
8P23.1 Duplication Syndrome
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis,... ORPHA:251076
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively smaller than type 2 fi... OMIM:300580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Abnormally large globe, Ventricular septal defect, Vascular ... OMIM:603387
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micr... ORPHA:1926
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... OMIM:615422
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Scapuloperoneal weakness, Foot dorsiflexor weakness, Shoulder girdle mus... OMIM:181400
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic hypokalemia, Respiratory paralysis, Late-onset proxima... ORPHA:681
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic gird... ORPHA:119
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesi... ORPHA:1335
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Muscle weakness ORPHA:85162
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Aortic valve st... OMIM:220210
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... ORPHA:75840
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Distal amyotrophy, Proximal muscle weakness, Pro... OMIM:182980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septa... OMIM:616145
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Renal dysplasia, Median cleft lip, Microglossia, Occipit... OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:613158
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... ORPHA:353327
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary arter... ORPHA:1908
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Encephalocele OMIM:613885
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, EMG: myopathic abnormalities, D... OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, EMG: myopathic abnormalities, Increased variability in muscle fiber dia... ORPHA:397744
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Poor head control, Flexion contracture, Muscular dystroph... OMIM:602771
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Thin... OMIM:601927
Pseudotrisomy 13 Syndrome
Cleft upper lip, Anal atresia, Hydrocephalus, Tricuspid atresia, Atrial septal defect, Holoprosen... OMIM:264480
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating cr... OMIM:608807
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:619024
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Oral cleft, Ventriculomegaly, Microphthalmia, Occipital encephalocele ORPHA:324416
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Distal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, E... OMIM:613319
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Bradykinesia, Flexion contracture, EMG: myopathi... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Gowers sign, Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase co... OMIM:601287
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Congenital ... ORPHA:972
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Encephalocele, Ventricular septal defect, Cleft lip, Broad philtrum ORPHA:398156
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, EMG: my... ORPHA:99939
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Diaphragmatic weakness, Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, D... OMIM:607088
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Flexion contracture of finger, Increased endomysial connective tissue, Flexion contr... OMIM:618484
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concen... OMIM:613723
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Anal atresia, Abnormal cardiac septum morphology, Renal hyp... ORPHA:1590
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Scapular winging, Type 1 muscle fiber predominance, Abnormal circul... OMIM:617336
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... ORPHA:597
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Weakness of facial musculature, P... ORPHA:2596
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Frontonasal Dysplasia 1
Median cleft palate, Tetralogy of Fallot, Cranium bifidum occultum, Median cleft lip, Microphthal... OMIM:136760
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607678
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Pulmonic stenosis, Anterior open-bite malocclusion, Lon... OMIM:617877
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Abnorm... ORPHA:477817
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Arthrogryposis multiplex congenita, G... OMIM:608930
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:612998
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Beevor's sign, EM... ORPHA:437572
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Unilateral renal agenesis, Ventricular septal defect, Hydranencephaly, Truncus arte... OMIM:601355
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Multiple renal ... ORPHA:1166
Myasthenic Syndrome, Congenital, 12
Gowers sign, Fatigable weakness, Ophthalmoparesis, Mildly elevated creatine kinase, Neck muscle w... OMIM:610542
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Elbow flexion contracture, Waddling gait, Skeletal muscl... ORPHA:97244
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... OMIM:615883
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Limb-girdle muscle weakness, Gait disturbance, Diffic... ORPHA:352470
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Pulmonic stenosis, Abno... OMIM:179613
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Proximal muscle ... ORPHA:401768
Rippling Muscle Disease 2
Abnormal skeletal muscle morphology, Elevated circulating creatine kinase concentration, Skeletal... OMIM:606072
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Proximal muscle weakness, Limb... OMIM:255310
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Muscle weakness, F... OMIM:615348
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:603034
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:486815
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness, Increased serum pyruvate OMIM:616794
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Nemaline Myopathy 10
Bulbar palsy, Flexion contracture, Muscle weakness, Arthrogryposis multiplex congenita, Facial pa... OMIM:616165
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Holoprosencephaly, Anterior encephalocele, Ventricular septal defect, Bilateral ... OMIM:601357
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Optic atrophy, Gait disturbance, Abnormal... OMIM:125250
Myopathy, Myosin Storage, Autosomal Recessive
Short stature, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness... OMIM:255160
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Weakness of facial m... ORPHA:1145
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Median cleft lip, Oral cleft ORPHA:3434
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Elevated circ... ORPHA:206559
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Renal cyst, Microphthalmia, Occipital encephalocele OMIM:611561
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Gowers sign, EMG: myopathic ab... OMIM:609560
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Micr... OMIM:615297
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Narrow mouth, Aortic valve stenosis, Hypoplasia of penis,... ORPHA:261290
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Nemaline Myopathy 3
Nemaline bodies, Proximal muscle weakness, EMG: myopathic abnormalities, Type 1 muscle fiber pred... OMIM:161800
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Oral cleft, Ventriculomegaly, Microphthalmia, Pe... OMIM:618804
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Tip-toe gait, EMG: myopathic abnormalit... ORPHA:370980
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circ... OMIM:123320
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis mu... OMIM:608931
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Leber Hereditary Optic Neuropathy
Optic atrophy, Ataxia, Myopathy ORPHA:104
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... OMIM:600987
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Waddling gait, Facial palsy, Myopathy OMIM:602541
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weakness, Gowers sign OMIM:616094
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Poly... ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:615352
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Renal cyst, Meningocele, Encep... OMIM:603194
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... OMIM:255200
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of the kidney, Patent ductus ... ORPHA:93274
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Joubert Syndrome 14
Hydrocephalus, Microphthalmia, Short philtrum, Renal cyst, Tented upper lip vermilion, Open mouth... OMIM:614424
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Difficulty walking, Waddling gait, Limb... ORPHA:369840
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Enlarged Parietal Foramina
Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Cleft lip, Venous malformation... ORPHA:60015
Hartsfield Syndrome
Cleft palate, Non-midline cleft lip, Microphthalmia, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Exer... ORPHA:57
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Hydrocephalus, Chordee, Atrial septal defect, Cleft palate, Micropenis, Hypospadias... OMIM:309801
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Distal muscle weakness, Foot dorsiflexor weakness, Distal a... OMIM:607684
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... ORPHA:596
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic eventration, Foot dorsifl... OMIM:620011
Cocaine Embryofetopathy
Encephalocele, Intestinal atresia, Abnormality of the urinary system ORPHA:1911
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Long philtrum, Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:605809
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Mus... OMIM:616867
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Facial palsy,... ORPHA:98913
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Carious teeth, Downturned corners of mouth, Abnormal ao... ORPHA:1110
Cap Myopathy
Gowers sign, Abnormal muscle fiber morphology, Poor head control, Increased variability in muscle... ORPHA:171881
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy OMIM:253550
Schisis Association
Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula, Anencephaly, Unilateral cl... ORPHA:63862
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Knee flexion contra... OMIM:602484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Gowers sign, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Elevated circu... OMIM:611588
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Difficulty walking, Myopathy OMIM:618242
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Gait disturbance, Skeletal muscle atrophy, Myopathy ORPHA:157973
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis multiplex conge... OMIM:254210
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Narrow mouth, Ventricular septal defect, Abnor... ORPHA:83473
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Renal dysplasia, Renal cyst, Ventriculomegaly, Hydronephr... OMIM:615287
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Double aortic arch, Tetralogy of Fallot, Pulmonary ar... OMIM:192430
Joubert Syndrome 16
Renal cyst, Encephalocele, Dandy-Walker malformation, Nephronophthisis OMIM:614465
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Elevated circulatin... OMIM:616827
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Bradykinesia, Scapular winging, Optic atrophy... ORPHA:254886
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Meckel Syndrome, Type 10
Cleft palate, Micropenis, Hypospadias, Dilated fourth ventricle, Anencephaly, Bifid uvula, Renal ... OMIM:614175
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Type 1 muscle fiber pr... OMIM:618276
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Congenital Muscular Dystrophy, Fukuyama Type
EEG abnormality, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy... ORPHA:272
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... OMIM:608840
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Muscle weakness, Ske... ORPHA:101082
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele ORPHA:1528
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Diaphragmatic weaknes... OMIM:181405
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Glutamate-Cysteine Ligase Deficiency
Ataxia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Myopathy ORPHA:33574
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Anophthalmia, Microphthalmia, Dandy-Walker malformation OMIM:164180
Parietal Foramina 1
Cleft upper lip, Encephalocele, Cleft palate OMIM:168500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypoglycosylation of alph... OMIM:615350
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Anophthalmia, Coarctation of aorta, Te... OMIM:601186
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Lethargy, Facial palsy, Myopathy OMIM:201470
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Mungan Syndrome
Barrett esophagus, Pulmonic stenosis, Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstructi... OMIM:611376
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Proximal muscle weakness, Respiratory insufficiency due to mu... OMIM:254090
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Urethral st... ORPHA:1727
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314