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Gene: Selenon MGI:2151208

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Gene Summary

Name:
selenoprotein N
Synonyms:
Sepn1,  1110019I12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
vertebral fusion Selenontm1a(KOMP)Wtsi HOM Early adult 3.12×10-05

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney 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 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 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 tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

12 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Elbow flexion contractu... ORPHA:97244
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... ORPHA:2020

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
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 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... OMIM:608423
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper l... OMIM:613376
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... OMIM:620246
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... OMIM:616228
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli... OMIM:619042
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Distal lower limb muscle weakness OMIM:617721
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Foot dorsiflexor weakness OMIM:617017
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
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
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... OMIM:620310
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb-girdle mu... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Knee flexion contracture ORPHA:401785
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle weakness OMIM:616280
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... OMIM:300717
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Decreased body weight ORPHA:401805
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Hammertoe, Distal amyotrophy OMIM:616625
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Muscular dy... OMIM:617066
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... OMIM:616471
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:612335
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Claw toe deformity OMIM:616282
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis OMIM:615681
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Upper limb muscle weakness, Hammertoe, Distal amyotrophy OMIM:182960
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Distal amyotrophy OMIM:618135
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... OMIM:255200
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigi... OMIM:255600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Scoliosis OMIM:614750
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Spinal muscular atrophy OMIM:271109
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
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Overwei... ORPHA:486815
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Claw hand deformity, Lower limb muscle weakness, Upper limb muscle weakness, Hammertoe, Lower lim... OMIM:618511
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... OMIM:607641
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
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis OMIM:608673
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Hammertoe, Spinal muscular atrophy OMIM:615048
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy OMIM:619112
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis ORPHA:488594
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Distal lower limb amyotrophy ORPHA:73245
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness OMIM:610250
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli... ORPHA:270
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Short neck, Tho... OMIM:619542
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... OMIM:248800
Spastic Paraplegia 43, Autosomal Recessive
Distal amyotrophy, Ankle flexion contracture, Knee flexion contracture OMIM:615043
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors... OMIM:617087
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture OMIM:611105
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb amyotrophy OMIM:615658
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, F... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Scoliosis, Failure to thrive, Skeletal muscle autopha... OMIM:619518
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Ham... ORPHA:139536
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Distal lower limb muscle weakness OMIM:619764
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Hammertoe, Lower limb muscle weakness, Foo... OMIM:613287
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lowe... OMIM:615575
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... OMIM:620389
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Hammertoe, Distal amyotrophy, Foot dorsiflexor weakness, Proximal amyotrophy OMIM:616040
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... OMIM:160500
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Scoliosis OMIM:620323
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302801
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes eq... OMIM:611067
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Hammertoe, Foot dorsiflexor weak... OMIM:605726
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Achilles tendon co... OMIM:617258
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:607678
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbi... OMIM:619574
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness ORPHA:100985
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... ORPHA:169186
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607731
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Autosomal Recessive Spastic Paraplegia Type 43
Distal amyotrophy, Flexion contracture of finger, Ankle flexion contracture, Knee flexion contrac... ORPHA:320370
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... OMIM:609284
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Talipes equinovarus OMIM:615683
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... ORPHA:353
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak... OMIM:253400
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Elbow flexion contractu... ORPHA:97244
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Hammertoe, Scoliosis, ... OMIM:607684
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Lower limb muscle weakness, Talipes equinovarus, Upper limb amyotrophy ORPHA:99940
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Hammertoe, Distal amyotrophy, Scoliosis OMIM:615376
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy, Hand muscle weakness OMIM:608323
Spinocerebellar Ataxia 43
Distal amyotrophy OMIM:617018
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... OMIM:613205
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness ORPHA:101010
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... OMIM:610687
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Kyphosis, Scoliosis ORPHA:101078
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy ORPHA:639
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Childhood-Onset Nemaline Myopathy
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... ORPHA:171439
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscl... ORPHA:101077
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia, Scoliosis OMIM:618184
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Spinal rigidi... OMIM:254090
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy OMIM:616081
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... OMIM:616668
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Scoliosis, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:617207
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger ORPHA:3454
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Distal amyotrophy, Facial palsy, Scoliosis OMIM:601382
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Muscle Filaminopathy
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... ORPHA:171445
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus OMIM:613162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance OMIM:618276
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Spinal rigidity, Kyphosis, Proximal amyotrophy, Scoliosis OMIM:617404
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy OMIM:607791
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Hereditary Motor And Sensory Neuropathy V
Distal amyotrophy, Limb muscle weakness, Hammertoe, Foot dorsiflexor weakness OMIM:600361
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers... OMIM:620351
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Distal amyot... ORPHA:3115
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Ulnar claw, Hammertoe, Distal amyotrophy, Foot dorsiflexor weakness OMIM:618400
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Distal amyotrophy, Kyphoscoliosis, Foot dorsiflexor weakness OMIM:605588
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p... ORPHA:597
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Small hypothenar eminence, Upper limb muscle weakness, Small thenar... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Flexion contracture, Pro... OMIM:607706
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus OMIM:613710
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... ORPHA:206546
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... ORPHA:178148
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:101081
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal amyotrophy OMIM:253300
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Distal lower limb muscle weakness, Foot dorsiflexor weakness ORPHA:497764
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Split hand, Dista... ORPHA:100998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Hammertoe, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118210
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness OMIM:302802
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... ORPHA:206559
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... OMIM:620285
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Autosomal Recessive Spastic Paraplegia Type 74
Distal amyotrophy, Distal lower limb muscle weakness ORPHA:468661
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Fried Syndrome
Skeletal muscle atrophy, Scoliosis ORPHA:85335
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... OMIM:616827
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Giant Axonal Neuropathy 2, Autosomal Dominant
Hammertoe, Distal amyotrophy OMIM:610100
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy ORPHA:401820
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Kyphosis, Generalized limb muscle atrophy, Scoliosis ORPHA:2598
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Epilepsy, Progressive Myoclonic, 9
Short thumb, Generalized amyotrophy, Scoliosis OMIM:616540
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Facial diplegia, Hammertoe, Distal amyotrophy, Distal arthrogryposis OMIM:616287
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... OMIM:617519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis ORPHA:101082
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis ... OMIM:618393
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy, Scoliosis, Joint contracture OMIM:616516
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Scoliosis ORPHA:1188
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:616907
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... OMIM:602484
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Split hand, Talipes equinovarus, Kyphoscoliosis OMIM:607831
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Failure to thrive, Nemaline bodies OMIM:618246
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi... OMIM:603034
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Scoliosis, Weakness of facial musculature, Failure to thr... OMIM:618811
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy OMIM:618635
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Hammertoe, Foot dorsiflexor weakness, Thenar muscle atrophy OMIM:606483
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98855
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis ORPHA:98896
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Typical Nemaline Myopathy
Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contractu... ORPHA:171436
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... ORPHA:353327
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive OMIM:618251
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Syndactyly, Upper limb muscle weakness, Scoliosis, Distal lower limb mus... OMIM:615284
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Distal amyotrophy, Hammertoe, Scoliosis, Limb muscle weakness, Foot dorsifle... OMIM:609260
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy, Rocker bottom foot ORPHA:85283
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis OMIM:618416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl... OMIM:616503
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Inability to walk, Flexion contracture, Respiratory insufficiency, Skeletal muscle ... OMIM:613156
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... OMIM:118220
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Spastic Paraplegia 55, Autosomal Recessive
Tibialis anterior muscle atrophy, Lower limb muscle weakness, Talipes equinovarus, Lower limb amy... OMIM:615035
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... OMIM:255710
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Flexion contracture, ... OMIM:613327
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Hammertoe, Kyphoscoliosis OMIM:180800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness OMIM:312920
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Short neck, Flexion contracture, Scoliosis, Increased variability i... OMIM:619026
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... OMIM:181350
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, First dorsal intero... OMIM:270685
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Hyperlordosis, Spinal rigidity, Limb muscle weakness, Type 1 muscle fiber predomina... OMIM:161800
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy, Kyphoscoliosis ORPHA:300179
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Myotonia Permanens
Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Gait disturbance ORPHA:99735
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Limb mus... OMIM:118300
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98853
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Generalized amyotrophy OMIM:618910
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... OMIM:118200
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Talipes equinovarus, Ulnar claw, Foot d... OMIM:604563
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Gait disturbance, Myopathy ORPHA:2349
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... OMIM:620278
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Scoliosis OMIM:500001
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Facial diplegia, Talipes equin... OMIM:611890
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Obesity, Muscular d... ORPHA:459033
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle... OMIM:608930
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Decreased body weight ORPHA:477814
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Distal amyotrophy, Scoliosis, Limb muscle... OMIM:614895
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Distal amyotrophy, Hammertoe, Distal lower limb muscle weakness, Fo... OMIM:600882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness OMIM:610357
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Split hand, Upper limb amyotrophy, Hammertoe, Distal lower limb muscle weakness, ... ORPHA:99950
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Failure to thrive, Flexion contracture, Kyphosis OMIM:618237
Congenital Myopathy 24
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... OMIM:617336
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Facial myokymia OMIM:620007
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Scoliosis OMIM:618239
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... OMIM:301830
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Scoliosis ORPHA:330050
Myopathy, Myofibrillar, 6
Scapular winging, Thoracic scoliosis, Facial palsy, Spinal rigidity, Knee flexion contracture, Ge... OMIM:612954
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Limited interphalangeal movement, Hand muscle weakness, Quadricep... ORPHA:99948
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... OMIM:601462
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Fatty replacement of skeletal muscle, Abnormality of the vertebral column, General... ORPHA:52430
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Limb muscle weakness, Hammertoe, Foot dorsiflexor weakness OMIM:618387
Macular Degeneration, Age-Related, 3
Distal amyotrophy OMIM:608895
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... OMIM:615156
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures ORPHA:2028
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, L... OMIM:615980
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis, Foot acroosteolysis, Tapered finger ORPHA:970
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Kyphoscoliosis, Split hand, Generalized amyotrophy, Scoliosis, Limb muscle weakness OMIM:614707
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive, Kyphosis, Scoliosis OMIM:618234
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis, Lower lim... ORPHA:99013
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Scoliosis ORPHA:101006
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal amyotrophy OMIM:311070
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... OMIM:113000
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Oliver-Mcfarlane Syndrome
Distal amyotrophy, Small for gestational age OMIM:275400
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Widening of cervical spinal canal, Arthrogryposis multiplex congenita, H... OMIM:253310
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... ORPHA:99939
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Paramyotonia Congenita
Skeletal muscle hypertrophy, Inspiratory stridor OMIM:168300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Thoracic scoli... OMIM:616716
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Distal amyotrophy, Distal lower limb muscle weakness, Hamme... OMIM:618279
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615704
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis OMIM:612079
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Short distal phalanx of finger, Ulnar deviation of finger ORPHA:2013
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia ORPHA:401815
Spinocerebellar Ataxia, Autosomal Recessive 4
Distal amyotrophy, Lower limb muscle weakness, Torticollis OMIM:607317
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Charcot-Marie-Tooth Disease Type 4G
Upper limb amyotrophy, Distal amyotrophy, Talipes equinovarus, Scoliosis, Distal lower limb muscl... ORPHA:99953
Melorheostosis
Skeletal muscle atrophy, Failure to thrive ORPHA:2485
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607736
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, Scoliosis, Lower l... OMIM:270800
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy OMIM:608627
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Lower limb muscle weakness, Generalized amyotrophy, Scoliosis ORPHA:1177
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy OMIM:607734
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios... ORPHA:254875
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture OMIM:606631
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Split hand, Obesity, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... ORPHA:2345
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Congenital Myopathy 19
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Scoliosis OMIM:618578
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... OMIM:618658
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Hand muscle weakness ORPHA:320355
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Myotonia, Potassium-Aggravated
Stridor, Skeletal muscle atrophy, Apneic episodes in infancy, Skeletal muscle hypertrophy OMIM:608390
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Limb muscle weakness, Scoliosis, Weakness of facial musculature ORPHA:329336
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture, Talipes equinovarus, Scoliosis OMIM:617481
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Hammertoe, Distal amyotrophy, Foot dorsiflexor weakness OMIM:614436
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Talipes equinovarus ORPHA:85288
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Lower limb muscle weakness, Lower limb hypertonia ORPHA:171863
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... ORPHA:60033
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand, Intrinsic hand muscle atrophy, Distal amyotrophy, Wrist drop, Scoliosis, Foot dorsifl... OMIM:616688
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy OMIM:606482
Amyotrophy, Monomelic
Upper limb muscle weakness, Interosseus muscle atrophy OMIM:602440
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy OMIM:601098
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy OMIM:614932
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Abnormal curvature of the ver... ORPHA:168572
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal amyotrophy, Distal lower limb muscle weakness ORPHA:94124
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Femur fracture, Ulnar deviat... OMIM:618291
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Lower limb muscle weakness, Generalized amyotrophy OMIM:619686
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Failure to thrive, Limb joint contracture ORPHA:309162
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Leukodystrophy, Hypomyelinating, 3
Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis OMIM:260600
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis ORPHA:2047
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Scoliosis, Ulnar claw, Distal lower lim... OMIM:145900
Spastic Ataxia 9, Autosomal Recessive
Distal amyotrophy, Hammertoe OMIM:618438
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Distal amyotrophy, Hammertoe, Kyphoscoliosis OMIM:214400
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Scoliosis, Limb hypertonia OMIM:619527
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy ORPHA:98757
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb amyotrophy, Lower limb muscle weakness, Short distal phalanx of finger OMIM:300266
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Kyphosis ORPHA:87876
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Talipes equinovarus OMIM:616719
Oxoglutarate Dehydrogenase Deficiency
Generalized amyotrophy OMIM:203740
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Anisospondyly, Caudal a... OMIM:156530
Becker Nevus Syndrome
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta, Shoulder girdle... ORPHA:64755
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Lower limb amyotrophy, Split hand, Lower limb muscle weakness OMIM:617882
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Skeletal muscle hypertro... ORPHA:682
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, De... OMIM:618392
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb muscle atrophy, Musc... OMIM:615351
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb muscle weakness, Proximal amyotrophy ORPHA:209335
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... ORPHA:559
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy OMIM:602099
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Distal amyotrophy, Scoliosis, Spinal muscular atrophy, Foot dorsiflexor weakness ORPHA:496756
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact... ORPHA:3068
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures, Scoliosis ORPHA:320406
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Quadricep... OMIM:255800
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness OMIM:612020
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Gait disturbance ORPHA:99736
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy OMIM:604360
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy ORPHA:369840
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture ORPHA:457205
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive OMIM:618228
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy OMIM:607250
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis ORPHA:276630
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615419
Allan-Herndon-Dudley Syndrome
Hallux valgus, Flexion contracture, Generalized amyotrophy, Scoliosis OMIM:300523
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebra... ORPHA:3101
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy OMIM:615643
Schindler Disease, Type I
Generalized amyotrophy OMIM:609241
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita ORPHA:2254
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Obesity, Talipes equinovarus, Scoliosis OMIM:616756
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... ORPHA:2332
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Obesity, ... OMIM:301900
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy OMIM:610006
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Failure to thrive OMIM:618603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Charcot-Marie-Tooth Disease, Type 4C
Facial palsy, Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Talipes equinovarus, Scol... OMIM:601596
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Right ventricular hypertrophy, Increased variability in muscle fiber diameter, Type 1 muscle fibe... OMIM:612949
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Coxa vara, Knee ... OMIM:259450
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo... ORPHA:254854
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Lissencephaly 8
Skeletal muscle atrophy, Talipes equinovarus OMIM:617255
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy ORPHA:139578
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Cachexia ORPHA:97229
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... ORPHA:93315
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... OMIM:613686
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph... OMIM:300280
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature ORPHA:85323
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
L1 Syndrome
Skeletal muscle atrophy, Adducted thumb ORPHA:275543
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Short neck, Increased variability in muscle fiber diameter, Femo... OMIM:617022
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Kyphosis, Absent phalangeal crease, Distal arthrogryposis,... OMIM:108145
15Q24 Microdeletion Syndrome
Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal... ORPHA:94065
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Leukodystrophy, Hypomyelinating, 5
Lower limb amyotrophy, Lower limb muscle weakness, Scoliosis OMIM:610532
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,... ORPHA:59
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Short foot, Distal amyotrophy, ... OMIM:275900
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis OMIM:614409
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis OMIM:615583
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal ... OMIM:609128
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture OMIM:614678
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Madras Motor Neuron Disease
Distal amyotrophy, Facial palsy ORPHA:137867
Gorlin Syndrome
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis ORPHA:377
Microhydranencephaly
Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, Scoliosis, Lower l... ORPHA:100986
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Scoliosis OMIM:617675
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Spastic Ataxia 2, Autosomal Recessive
Distal amyotrophy, Torticollis OMIM:611302
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Sandal gap, Kyphosis, Small hand, Short foot, Macroglossia, Abdomin... OMIM:300354
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cachexia ORPHA:1933
Wieacker-Wolff Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Congenital foot c... OMIM:314580
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Congenital contracture, Distal amyotrophy, Talipes equinovarus OMIM:607596
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Distal amyotrophy, Fiber type grouping OMIM:271245
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb amyotrophy, Lower limb muscle weakness ORPHA:100999
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... OMIM:603387
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Talipes equinovarus, Decreased body weight OMIM:617695
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... OMIM:613150
Giant Axonal Neuropathy 1, Autosomal Recessive
Talipes equinovarus, Distal amyotrophy, Facial palsy, Scoliosis OMIM:256850
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy OMIM:604484
Optic Atrophy 11
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, F... OMIM:617302
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Scoliosis ORPHA:96
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Short foot, Scoliosis OMIM:312750
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Acute infantile spinal muscular atroph... OMIM:271225
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... ORPHA:300605
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Elbow flexion contracture, Decreased body weigh... OMIM:616200
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d... ORPHA:2311
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphys... OMIM:300232
Masa Syndrome
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb OMIM:303350
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Failu... OMIM:600462
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, F... OMIM:218000
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to m... OMIM:310200
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... ORPHA:93314
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Facial paralysis OMIM:613559
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy OMIM:615578
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta ORPHA:230839
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa... ORPHA:3208
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Limb hypertonia OMIM:618247
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Abnormality of the musculature of the lower limbs, Obesity, Scoliosis ORPHA:464282
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Kyphosis, Congenital contracture, Joint contracture of the 5th finger,... ORPHA:352490
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Broad-based gait, Neonatal respiratory di... OMIM:610978
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Distal amyotrophy, Hammertoe OMIM:601455
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy OMIM:162400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita OMIM:232500
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arthrogryposis mu... OMIM:615834
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Abnormal vertebral ... ORPHA:915
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Joint contracture of the hand, Scoliosis, Camptodactyly, Flexion contrac... OMIM:609033
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m... OMIM:614856
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Upper limb muscle weakness, Facial diplegia, Distal ... ORPHA:254930
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Truncal obesity OMIM:219080
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis... ORPHA:2771
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Micromelia, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets OMIM:614487
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis OMIM:601152
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, ... OMIM:615547
Boucher-Neuhauser Syndrome
Distal amyotrophy OMIM:215470
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Autosomal Recessive Spastic Paraplegia Type 39
Generalized limb muscle atrophy ORPHA:139480
Richards-Rundle Syndrome
Distal amyotrophy ORPHA:1399
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Oxoglutaric Aciduria
Skeletal muscle atrophy ORPHA:31
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Intellectual Disability, Birk-Barel Type
Sacral dimple, Foot joint contracture, Spinal muscular atrophy, Congenital finger flexion contrac... ORPHA:166108
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Finger syndactyly, Short neck, Postaxial hand polydactyly, Obesity ORPHA:110
Sialidosis Type 1
Skeletal muscle atrophy, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... OMIM:169400
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contracture ORPHA:75496
Ataxia-Telangiectasia
Skeletal muscle atrophy, Failure to thrive ORPHA:100
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Fibular bowing, Horizontal sacrum, Scol... OMIM:112350
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy ORPHA:2821
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive ORPHA:95428
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure... OMIM:234250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Sco... OMIM:130060
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Paraspinal muscle hypertrophy ORPHA:3198
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis ORPHA:1545
Glycogen Storage Disease Xii
Myopathy, Short neck, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Cdkl5-Deficiency Disorder
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis ORPHA:505652
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy OMIM:613877
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Short foot, Abnormal diap... ORPHA:3409
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Abnormal mitochondria in muscle tissue, Distal amyotrophy, Lower limb muscle weakness ORPHA:313772
Ck Syndrome
Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Slender build OMIM:300831
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Frontometaphyseal Dysplasia 1
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... OMIM:305620
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... OMIM:112250
Hypotonia-Cystinuria Syndrome
Failure to thrive, Ragged-red muscle fibers, Facial palsy OMIM:606407
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,... ORPHA:958
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness OMIM:200150
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy OMIM:615217
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... OMIM:205100
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th... OMIM:272460
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Alpha-Mannosidosis
Bowing of the long bones, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:61
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness, Scoliosis ORPHA:88644
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy ORPHA:156
Renpenning Syndrome
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Abnormal thumb morphology, Cachexia ORPHA:3242
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Talipes equinovaru... ORPHA:320375
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Abnormal metatarsal morphology, Kyphoscoliosis, Flat capital femoral e... ORPHA:93360
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Abnormal metaphysis morp... ORPHA:583
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Failure to thrive, Arachnodactyly OMIM:616420
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Failure to thrive OMIM:617339
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Kypho... ORPHA:628
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy, Cachexia ORPHA:42
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Fatty replacement of skeletal muscle, Abnormal... ORPHA:1320
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Tapered finger, Short toe, Truncal obesity, Camptodactyly of toe ORPHA:127
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ... ORPHA:98915
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Kyphoscoliosis ORPHA:447760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive OMIM:245400
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Scoliosis, Arthrogr... ORPHA:994
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Facial myokymia ORPHA:513436
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Distal amyotrophy, Achilles tendon contracture OMIM:612674
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Short neck, Kyph... OMIM:301041
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Neck muscle hypertrophy, Unsteady gait, Difficulty walking, Hyperventilation ORPHA:420492
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis ORPHA:1548
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis OMIM:211530
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... ORPHA:298
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Scoliosis OMIM:208920
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... OMIM:618000
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thum... ORPHA:435638
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Myotonic Dystrophy 2
Weakness of facial musculature, Type 2 muscle fiber atrophy, Generalized amyotrophy, Sternocleido... OMIM:602668
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... OMIM:150250
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly OMIM:300337
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Spastic Ataxia, Charlevoix-Saguenay Type
Swan neck-like deformities of the fingers, Peroneal muscle atrophy, Distal amyotrophy, Hammertoe,... OMIM:270550
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:128100
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... ORPHA:1358
Rett Syndrome
Skeletal muscle atrophy, Failure to thrive, Scoliosis ORPHA:778
Fucosidosis
Kyphosis, Decreased muscle mass, Failure to thrive, Anterior beaking of lumbar vertebrae ORPHA:349
Spinocerebellar Ataxia 36
Skeletal muscle atrophy OMIM:614153
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Frank-Ter Haar Syndrome
Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the... ORPHA:137834
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure... ORPHA:367
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Abnormality of masticatory muscle ORPHA:98755
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive OMIM:619272
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae OMIM:271520
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Scoliosis, Shor... OMIM:180870
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Limb hypertonia ORPHA:500180
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive OMIM:614300
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... OMIM:615761
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... ORPHA:96169
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Scoliosis OMIM:615157
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Generalized amyotrophy, Limb hypertonia OMIM:617710
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger ORPHA:1858
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Flexion contractu... ORPHA:481152
Shox-Related Short Stature
Skeletal muscle hypertrophy ORPHA:314795
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Generalized amyotrophy OMIM:619423
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ataxia, Gait ataxia OMIM:617164
Caudal Regression Syndrome
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... ORPHA:3027
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Failure to thrive OMIM:257200
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Small for gestational age OMIM:612073
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, ... OMIM:617602
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Lower limb muscle weakness ORPHA:100993
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Distal amyotrophy, Scoliosis ORPHA:352641
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size, Slender build ORPHA:364028
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Failure to thrive, Scoliosis ORPHA:94063
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx ORPHA:280210
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Neuraminidase Deficiency
Skeletal muscle atrophy OMIM:256550
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis, Ulnar deviation of the hand ORPHA:157954
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Small for gestational age, Type 2 muscle fiber predominance, Short foot,... OMIM:615471
Baralle-Macken Syndrome
Kyphosis, Obesity, Tapered finger OMIM:619255
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Slender finger, Adducted thumb OMIM:300243
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o... OMIM:607015
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Short metatarsal, Tibial bowing, Femoral bowing, Thoracic kypho... OMIM:223800
Spastic Paraplegia 15, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness OMIM:270700
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Camurati-Engelmann Disease
Skeletal muscle atrophy, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bone diap... OMIM:131300
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature ORPHA:98673
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... OMIM:171480
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Distal amyotrophy OMIM:256840
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:98914
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy OMIM:602433
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Distal amyotrophy OMIM:205400
Marden-Walker Syndrome
Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital co... OMIM:248700
Emanuel Syndrome
Torticollis, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contractu... OMIM:609029
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Trisomy 17P
Skeletal muscle atrophy, Tapered finger, Short neck, Flexion contracture, Macroglossia, Scoliosis... ORPHA:261290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Platyspondyly, Short femoral ne... OMIM:313400
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy ORPHA:803
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur... ORPHA:17
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly ORPHA:3085
Mucolipidosis Iii Gamma
Hyperlordosis, Flat capital femoral epiphysis, Short neck, Kyphosis, Genu valgum, Scoliosis OMIM:252605
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy ORPHA:168563
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Polymyositis
Weight loss, Abnormal muscle fiber morphology ORPHA:732
Clark-Baraitser syndrome
Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm OMIM:300602
Dysostosis, Stanescu Type
Bowing of the long bones, Micromelia, Short neck, Hyperlordosis, Kyphosis, Macroglossia, Scoliosi... ORPHA:1798
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp... ORPHA:3098
Pseudoachondroplasia
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lumbar hyperlordosis... OMIM:177170
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age OMIM:618252
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Spinal rigi... OMIM:254940
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Satoyoshi Syndrome
Skeletal muscle hypertrophy OMIM:600705
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... OMIM:610443
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:255995
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy OMIM:604391
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... OMIM:618733
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle hypertrophy ORPHA:435651
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276241
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy OMIM:620089
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Macroglo... ORPHA:258
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ... ORPHA:1328
Lopes-Maciel-Rodan Syndrome
Short foot, Kyphosis, Small hand, Scoliosis OMIM:617435
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... OMIM:601701
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid ... OMIM:607326
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Rocker bottom foot, Micromelia, Short neck, Hyperlordos... ORPHA:2616
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... ORPHA:206572
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Hammertoe ORPHA:773
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... ORPHA:2020
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Metatarsus adductus, H... OMIM:253220
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Kyphosis,... ORPHA:15
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Short lower limbs, Scoliosis OMIM:259440
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Kyphosis, Dislocation of the femoral head, Scoliosis OMIM:619797
Donohue Syndrome
Severe failure to thrive, Skeletal muscle atrophy, Large hands OMIM:246200
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Failure to thrive, Kyphosis, Myopathy OMIM:615512
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Clinodactyly of the 2nd finger, Scoliosis, Prominent finger... ORPHA:251061
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Arachnodactyly, Scoliosis, Adducted thumb ORPHA:2181
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Failure to thrive, Short neck OMIM:615802
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:354
Lipe-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in... ORPHA:435660
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia ORPHA:528
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... ORPHA:466768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Short neck, Kyphosis, Obesity, Scoliosis, Toe clinodac... ORPHA:254346
Moebius Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... ORPHA:570
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Upper ... ORPHA:101000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Calf muscle hypertrophy, Scoliosis... OMIM:253800
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... ORPHA:192
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Failure to thrive OMIM:210210
Adenylosuccinase Deficiency
Skeletal muscle atrophy OMIM:103050
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Proximal femoral epip... OMIM:162300
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum OMIM:619743
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Craniosynostosis, Short... OMIM:213980
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Robinow Syndrome, Autosomal Recessive 1
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ... OMIM:268310
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Myopathy, Talipes equinovarus,... OMIM:614557
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Sc... ORPHA:90652
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Limb hypertonia OMIM:619909
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Generalized limb muscle atrophy, Obesity, Distal amyotrophy, Scoliosis, Lower limb mu... ORPHA:2822
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Increased intramyocellu... ORPHA:26791
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones ORPHA:3191
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Respiratory insuff... ORPHA:800
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Short neck, Spinal r... ORPHA:94068
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Short neck, Coxa valga, Hyperlordosis, Metaphyseal widening, Hypoplasia o... OMIM:253000
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Small hand, ... ORPHA:85293
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Failure to thrive OMIM:615934
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers OMIM:614924
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Distal amyotrophy OMIM:164400
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy OMIM:127300
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... OMIM:109400
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, S... ORPHA:3121
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Finger syndactyly, Failure to thrive, Camptodactyly of finger, Aplasia/H... ORPHA:2990
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodacty... OMIM:617061
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Flexion contracture, Truncal obe... OMIM:301072
Recon Progeroid Syndrome
Skeletal muscle atrophy, Long thumb, Arachnodactyly, Proximal placement of thumb OMIM:620370
Weaver Syndrome
Short fourth metatarsal, Overlapping toe, Diastasis recti, Coxa valga, Wide distal femoral metaph... OMIM:277590
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph... ORPHA:2911
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy OMIM:268800
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Abnormal metaphysis mo... ORPHA:2655
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Pelv... ORPHA:79240
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Scoliosis OMIM:617193
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build OMIM:603041
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Failure to thrive, Scoliosis OMIM:615895
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia ORPHA:90322
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Thoracolumbar kyphosis, Abnormality of the cervical spine, Short ... ORPHA:508533
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Proximal amyotrophy ORPHA:95433
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... ORPHA:3320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly ORPHA:88628
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, ... ORPHA:2461
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Scoliosis, Finger joi... OMIM:618493
Myhre Syndrome
Ataxia, Patent ductus arteriosus, Generalized muscle hypertrophy, Respiratory insufficiency, Skel... OMIM:139210
Walker-Warburg Syndrome
Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature... ORPHA:899
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Kyphosis, Abnormal form of the verte... ORPHA:3219
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Proximal placement of thumb OMIM:615433
Holt-Oram Syndrome
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl... ORPHA:392
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Atypical Rett Syndrome
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:3095
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Small hand, Short foot, Spina bifida occulta, Sternocleidomastoid amyotrophy, Broad f... ORPHA:488434
Kbg Syndrome
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly ORPHA:93274
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture ORPHA:39812
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Scoliosis, Failure to thrive ORPHA:500055
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... OMIM:619951
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... OMIM:607014
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Obesity, Genu valgum, Short foot, S... OMIM:618443
Cono-Spondylar Dysplasia
Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Duane Retraction Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han... ORPHA:233
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Short neck, Overlapping fingers, Failure to thrive, Adducted thumb OMIM:608779
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... ORPHA:1860
Distal Triplication 15Q
Arachnodactyly, Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Microphthalmia, Syndromic 3
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia OMIM:206900
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Scoliosis ORPHA:496641
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Broad toe, Diastasis recti, Short neck, 2-3 toe syndactyly, Macroglossia... ORPHA:488632
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy OMIM:614969
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,... ORPHA:582
Neu-Laxova Syndrome
Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Scolio... ORPHA:2671
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Coxa valga, Hyperlordosis, Hypoplasia of the odontoid process, Metaphysea... OMIM:253010
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Prader-Willi Syndrome
Syndactyly, Decreased muscle mass, Failure to thrive in infancy, Kyphosis, Acromicria, Small hand... OMIM:176270
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly, Obesity ORPHA:261222
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Stickler Syndrome, Type I
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Scoliosis, Morbus Scheuerma... OMIM:108300
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Increased body weight, Increased sarcoplasmic glycogen ORPHA:264580
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy OMIM:146500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Hemivertebrae, Macroglossia, Talipes equino... OMIM:301040
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cachexia, Myopathy, Scoliosis, Broad thumb ORPHA:109
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join... OMIM:617527
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Split hand, Flexion contracture, Macroglossia OMIM:309900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Mitten de... ORPHA:89842
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Rocker bottom foot, Long fingers, Postaxial hand polydac... ORPHA:521426
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck, Genu valgum ORPHA:2983
Localized Scleroderma
Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy ORPHA:90289
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Werner Syndrome
Skeletal muscle atrophy, Small hand, Rocker bottom foot, Slender build ORPHA:902
Farber Disease
Skeletal muscle atrophy, Short toe, Flexion contracture, Short finger, Failure to thrive ORPHA:333
Atelosteogenesis, Type I
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... OMIM:108720
Wolf-Hirschhorn Syndrome
Sacral dimple, Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Preaxial hand polyd... ORPHA:280
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis OMIM:609008
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Short phalanx of f... OMIM:143095
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Clinodactyly of t... ORPHA:568
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Talipes equinova... OMIM:617821
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Tibial bowing OMIM:259420
Harrod Syndrome
Kyphosis, Failure to thrive, Arachnodactyly, Scoliosis ORPHA:2115
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Kyphosis, Abno... ORPHA:261318
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly OMIM:619123
2P15P16.1 Microdeletion Syndrome
Sandal gap, Facial palsy, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis,... ORPHA:261349
Pycnodysostosis
Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Small hand, Short foot, Osteolytic defects of th... ORPHA:763
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Kyphosis, Vertebral segmentation defect, Short middle phalanx of finger, Scoli... ORPHA:1005
Jaberi-Elahi Syndrome
Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive OMIM:617988
Noonan Syndrome 14
Scapular winging, Kyphosis, Clinodactyly, Short neck OMIM:619745
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation... ORPHA:508498
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Triphalangeal t... ORPHA:2232
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Lower limb muscle weakness, Quadriceps muscle atrophy ORPHA:845
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Congenital diaphragmatic hernia OMIM:219100
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal pha... ORPHA:404440
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Increased intramyocellular ... OMIM:252010
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Short neck OMIM:608776
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Arachnodactyly, Kyphoscoliosis, Atlantoaxial ... ORPHA:536545
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Genu ... OMIM:619194
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Ectrodactyly, Scoliosis ORPHA:3378
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Kyphosis OMIM:616914
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Aicardi Syndrome
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis OMIM:304050
Cole-Carpenter Syndrome
Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me... ORPHA:2050
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Small hand, Increased body weight, Short foot, Abdominal obesity, ... ORPHA:398069
3C Syndrome
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Brachydactyly ORPHA:7
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis OMIM:607323
Immunodeficiency 31C
Skeletal muscle atrophy, Weight loss OMIM:614162
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Absent ... OMIM:618050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Mesomelia OMIM:616482
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Fibular hypop... ORPHA:140
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly, Clinodactyl... OMIM:616894
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, Aplasia of the 1st... ORPHA:476126
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c... ORPHA:77301
Stickler Syndrome
Skeletal muscle atrophy, Arachnodactyly, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form... ORPHA:828
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Scoliosis ORPHA:50
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal... OMIM:194190
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Long fingers, Kyphosis, 2-3 toe syndactyly, Hand po... ORPHA:401973
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Truncal obesity OMIM:222700
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck ORPHA:647
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Overlapping toe, Small for gestational age, Tapered finger, Flexion cont... OMIM:309590
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc... ORPHA:464738
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:58
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Er... OMIM:618476
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, P... OMIM:610915
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Small for gestational... ORPHA:464306
Leigh Syndrome
Myopathy, Failure to thrive, Multiple joint contractures, Skeletal muscle atrophy ORPHA:506
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Kyph... ORPHA:193
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... OMIM:617137
Marfan Syndrome
Skeletal muscle atrophy, Arachnodactyly, Cachexia, Kyphosis, Scoliosis, Slender build, Spondyloli... ORPHA:558
Osteogenesis Imperfecta, Type Iv
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... OMIM:166220
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Kyphosis, Slender toe, Camptodac... ORPHA:3063
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Talipes equinovarus, Distal low... ORPHA:79139
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Large for gestational age... ORPHA:457359
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis ORPHA:97360
Frank-Ter Haar Syndrome
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Metatarsus ad... OMIM:249420
Lipodystrophy, Familial Partial, Type 2
Skeletal muscle hypertrophy, Increased intramuscular fat OMIM:151660
Megalocornea-Intellectual Disability Syndrome
Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum ORPHA:2479
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Shor... ORPHA:818
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis... ORPHA:464311
Mucolipidosis Type Ii
Hip contracture, Diastasis recti, Kyphosis, Knee flexion contracture, Weight loss, Talipes equino... ORPHA:576
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Failure to thrive OMIM:239000
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of... OMIM:157800
Myhre Syndrome
Skeletal muscle hypertrophy ORPHA:2588
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Facial palsy ORPHA:297
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Failure to thrive, Flexion contracture OMIM:212065
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Overlapping fingers, Bilateral talipes equinovarus, Kyphosis, Knee flexion contracture OMIM:619708
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Autoamputation of digits, Failure to thrive OMIM:256810
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... ORPHA:1507
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly OMIM:258850
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion OMIM:616368
Thrombocytopenia-Absent Radius Syndrome
Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, Carpal synosto... OMIM:274000
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:619714
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, 2-3 toe syndactyly, Scoliosis OMIM:616449
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,... OMIM:182250
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Kyphosis, Scoliosis ORPHA:90324
Aspartylglucosaminuria
Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spo... OMIM:208400
Marshall-Smith Syndrome
Hallux valgus, Thoracic scoliosis, Bullet-shaped middle phalanges of the hand, Kyphoscoliosis, Hy... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Kyphoscoliosis, Kyphosis, Left ventricular noncompaction, Scoliosis, Synostosis of... OMIM:300967
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Small for ge... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Small for ge... ORPHA:363958
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat... ORPHA:536532
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae OMIM:306955
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... OMIM:259770
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding coccyx, Prom... OMIM:300966
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Cowden Syndrome
Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly ORPHA:201
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Bowing of the legs, Kyphosis, Platyspondyly, Limb undergrowth, Short dista... ORPHA:1855
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Facial palsy, Abnormal metacarpal morphology, Kyphosis, Abnormal finger morpho... ORPHA:2658
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Long fingers,... OMIM:256040
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis, Proximal placement of thumb ORPHA:261250
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Large hands, Scoliosis OMIM:617011
Osteogenesis Imperfecta
Bowing of the long bones, Rhizomelia, Cervical kyphosis, Micromelia, Small for gestational age, K... ORPHA:666
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Leprechaunism
Skeletal muscle atrophy, Large hands, Failure to thrive, Decreased body weight ORPHA:508
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... OMIM:181000
Leprosy
Skeletal muscle atrophy, Autoamputation of digits, Foot dorsiflexor weakness ORPHA:548
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... OMIM:613458
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Wrinkly Skin Syndrome
Scapular winging, Hypoplasia of the musculature, Kyphosis, Coxa vara, Talipes equinovarus, Scolio... OMIM:278250
Familial Osteodysplasia, Anderson Type
Kyphosis, Bifid femur, Abnormal form of the vertebral bodies, Aplasia/hypoplasia of the femur, Sc... ORPHA:2769
Mgat2-Cdg
Kyphosis, Failure to thrive, Scoliosis, Brachydactyly ORPHA:79329
Rett Syndrome, Congenital Variant
Kyphosis, Talipes equinovarus, Scoliosis OMIM:613454
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Failure to thrive, Swelling of proximal interphalangeal joints, Clubbing ORPHA:3260
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Metaphyseal widening, Genu valgum, Weight ... OMIM:219800
Coffin-Siris Syndrome 1
Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phal... OMIM:135900
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Increased femoral anteversion, Scoliosis, Decreased body weight OMIM:619005
Zttk Syndrome
Kyphosis, Flexion contracture, Small hand, Hemivertebrae, Short foot, Scoliosis, Failure to thrive OMIM:617140
Cockayne Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Contractures of the large joints, Congenital contrac... ORPHA:191
Wiedemann-Rautenstrauch Syndrome
Ataxia, Camptodactyly of finger, Skeletal muscle hypertrophy, Truncal ataxia, Limb hypertonia ORPHA:3455
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Spinal canal stenosis, Obesity, Short foot, Myopathy, Foot pol... ORPHA:1606
Alstrom Syndrome
Kyphosis, Truncal obesity, Scoliosis OMIM:203800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Polydac... OMIM:300960
Acromegaly
Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Large hands, Cortica... ORPHA:963
Hajdu-Cheney Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short neck, Hypopl... ORPHA:955
Somatomammotropinoma
Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Large hands, Cortica... ORPHA:314769
Atypical Werner Syndrome
Skeletal muscle atrophy, Failure to thrive, Rocker bottom foot, Osteolytic defects of the phalang... ORPHA:79474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... ORPHA:444077
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac... ORPHA:273
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Metatarsus adductus, Kyphosis, Flexion contracture, Kne... OMIM:259050
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Contracture of the distal interphalangeal joi... ORPHA:83617
Proteus Syndrome
Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Cachexia, Metatarsus valgu... ORPHA:744
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, Kyphosis, Cone-shaped epiphyses of the phalanges of the h... OMIM:119600
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Kyphosis, Genu valgum, Finger swelling, Platyspondyly... OMIM:309000
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Atelis Syndrome 2
Kyphosis, Clinodactyly, Sacral dimple OMIM:620185
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy ORPHA:284339
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Coxa valga, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Overweight, Kyphosis, Obesity, Abnormal curvature of the vertebral column... OMIM:619475
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Classic Homocystinuria
Kyphosis, Arachnodactyly, Scoliosis, Genu valgum ORPHA:394
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Cockayne Syndrome A
Hip contracture, Failure to thrive, Kyphosis, Ivory epiphyses of the phalanges of the hand OMIM:216400
Mowat-Wilson Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Generalized muscle hypertrophy, Pulmonary ar... OMIM:235730
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Tapered fi... ORPHA:268261
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Ectrodacty... ORPHA:2273
Occipital Horn Syndrome
Short humerus, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum, Platyspondyly OMIM:304150
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Coxa valga, Tapered finger, Kyphosis, ... OMIM:303600
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... ORPHA:51608
Williams Syndrome
Hallux valgus, Sacral dimple, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Obesity, Abn... ORPHA:904
Cockayne Syndrome B
Small for gestational age, Kyphosis, Ivory epiphyses of the phalanges of the hand, Severe failure... OMIM:133540
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Tarsal synostosis ORPHA:85199
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Genu valgum, Platyspondyly, Scoliosis, Abnormal metaphysis morphology, Failure to thrive ORPHA:534
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Large hands, Abnormality of... ORPHA:97685
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis ORPHA:1393
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99413
Mosaic Monosomy X
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99228
Monosomy X
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:99226
Turner Syndrome
Hypermobility of toe joints, Failure to thrive in infancy, Short neck, Kyphosis, Short toe, Enlar... ORPHA:881
Cdags Syndrome
Kyphosis OMIM:603116
Craniofacial Microsomia 1
Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia OMIM:164210
Viss Syndrome
Long toe, Arachnodactyly, Rocker bottom foot, Kyphosis, Genu valgum, Macroglossia, Talipes equino... OMIM:619472
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Short thumb, Preaxial hand ... OMIM:113620
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Kyphosis, Bilateral camptoda... ORPHA:821
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Parkes Weber Syndrome
Lower limb muscle weakness, Muscle hypertrophy of the lower extremities ORPHA:90307
Neurofibromatosis Type 1
Kyphosis, Genu valgum, Scoliosis, Genu varum ORPHA:636
Yunis-Varon Syndrome
Anterior concavity of thoracic vertebrae, Short metatarsal, Absent hallux, Tapered finger, Aplasi... OMIM:216340
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities ORPHA:1772
Alström Syndrome
Thoracic scoliosis, Kyphosis, Short toe, Obesity, Truncal obesity, Lumbar scoliosis, Short finger ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH diagnostic term hydrocephalus Selenontm1a(KOMP)Wtsi HOM Early adult
Brain - process of degenerative change Selenontm1a(KOMP)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Selenon.

No publications found that use IMPC mice or data for Selenon.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Selenontm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Selenontm44661(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Selenontm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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