banner
Genes Phenotypes Help, News, Blog

Gene: Magel2 MGI:1351648

Log in to follow

Gene Summary

Name:
MAGE family member L2
Synonyms:
NDNL1,  Mage-l2,  nM15,  ns7

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
decreased circulating serum albumin level Magel2em2(IMPC)H HOM Early adult 6.04×10-07
decreased circulating total protein level Magel2em2(IMPC)H HOM Early adult 6.34×10-05
abnormal locomotor behavior Magel2em2(IMPC)H HOM Early adult 2.41×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Magel2 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 Magel2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398069
Schaaf-Yang Syndrome
Flexion contracture, Kyphosis, Inability to walk, Camptodactyly, Scoliosis, Obesity, Failure to t... OMIM:615547
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754

The table below shows human diseases predicted to be associated to Magel2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Miyoshi Myopathy
Tibialis muscle weakness, Tip-toe gait, Distal lower limb amyotrophy, Calf muscle hypertrophy, Tr... ORPHA:45448
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Tip-toe gait, Quadriceps muscle atrophy, Inability to walk, Proximal muscle weakness in lower lim... ORPHA:482601
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proxim... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:146110
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Shuffling gait, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Generalized limb ... ORPHA:219
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture, Tip-toe gait, Spastic gait, Skeletal muscle atrophy, Difficulty walking... ORPHA:401785
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Decreased circulating dihydrotestosterone co... OMIM:228300
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
46,Xy Sex Reversal 11
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Gait disturbance, Foot dorsiflexor weakness, Difficulty walking, Steppage ga... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, Scoliosis, First dorsal int... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Anosmia, De... OMIM:614839
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Foot dorsiflexor weakness, Gait disturbance, Spinal muscular atrophy, Distal lower limb amyotrophy OMIM:614881
Spastic Paraplegia 62, Autosomal Recessive
Tip-toe gait, Spastic gait, Skeletal muscle atrophy, Difficulty walking, Thoracic scoliosis OMIM:615681
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Hyperlordosis, Centrally ... OMIM:617760
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Difficulty walking, Distal lower limb muscle weakness OMIM:615025
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Anosmia, Cryptorchidism, Hypogonadotropic hypogona... OMIM:614858
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Falls, Calf... OMIM:618848
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Skeletal muscle atrophy, Decreased body weight ORPHA:401805
Spinal Muscular Atrophy, Distal, X-Linked 3
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy OMIM:300489
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... OMIM:619042
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Spinal rigidity, Loss of amb... OMIM:300717
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait OMIM:618036
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Gait disturbance, Steppage gait OMIM:616625
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Neuronopathy, Distal Hereditary Motor, Type Va
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus... OMIM:600794
Nemaline Myopathy 2
Muscle fiber splitting, Flexion contracture, Inability to walk, Nemaline bodies, Steppage gait, S... OMIM:256030
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Anosmia,... OMIM:610628
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, I... ORPHA:163976
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles, Steppage gait OMIM:604454
X-Linked Intellectual Disability, Cilliers Type
Shyness, Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, ... ORPHA:163971
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, Lower limb muscle weakness, Spastic gait, Thenar muscle atrophy, First do... OMIM:612335
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Tall stature, Proxima... ORPHA:1878
Autosomal Recessive Spastic Paraplegia Type 76
Gait ataxia, Lower limb muscle weakness, Limb ataxia, Ataxia, Skeletal muscle atrophy, Scoliosis ORPHA:488594
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Back pain, Spinal rigidity, Achilles tendon contr... OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Kyphosis, Spi... OMIM:300718
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy, Scoliosis OMIM:611225
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Hyperlordosis, Wrist drop, Centrally nucleated sk... OMIM:616852
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:179494
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Small pituitary gland, Delayed puberty, Anosmia, Cryptorchidism, Primary amenorrhea, Hy... OMIM:612702
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Incre... OMIM:253601
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Gait disturbance ORPHA:357043
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Spi... OMIM:619566
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Spastic gait OMIM:612539
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hyposmia, Decreased testicular ... OMIM:308700
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Wide nasal br... ORPHA:261534
Spastic Paraplegia 43, Autosomal Recessive
Knee flexion contracture, Gait disturbance, Loss of ambulation, Ankle flexion contracture, Distal... OMIM:615043
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... OMIM:300869
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... OMIM:609285
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Myopathy, Skeletal muscle atrophy, Limb muscle weakness OMIM:609273
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Skeletal muscle atrophy, Multiple joint contractures OMIM:614915
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... OMIM:614837
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle hypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Calf musc... ORPHA:280333
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Atrophic scars, My... OMIM:616471
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Difficulty walking OMIM:616282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... OMIM:253700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia ORPHA:94124
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Distal lower l... OMIM:600175
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Ataxia, EMG: myopathic abnormalities, Ragged-red muscle fib... OMIM:500002
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Wrist flexion contracture, Wrist drop, Distal lower limb amyotrophy, Weakness of the intrinsic ha... OMIM:619519
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Inability t... ORPHA:266
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Anos... OMIM:614842
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Hyperlordosis, Spinal muscular atrophy, Joint contracture of the hand, Scapuloperoneal amyotrophy... OMIM:611067
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Dysequilibrium Syndrome
Skeletal muscle atrophy, Gait disturbance, Ataxia ORPHA:1766
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Distal amyotrophy, Loss of ambulation, Spinal muscular atrophy OMIM:182980
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Scissor gait, Gait disturbance OMIM:615686
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Slender build, Spinal rigidi... ORPHA:171439
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia OMIM:611105
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Sec... ORPHA:432
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Tip-toe gait, Calf muscle hypertrophy, Lumbar hyp... ORPHA:353
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98855
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Spinal rigidity, Lumbar hyperlordosis, Achilles tendon contracture, Neck... OMIM:255600
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Lower limb amyotrophy, Hand muscle atrophy OMIM:615658
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty walking, Calf muscle hypertrophy OMIM:615048
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Anosmia, Cryptorchidism, Mi... OMIM:614880
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Congenital contracture, Type 1 muscle fiber predo... OMIM:605637
Autosomal Spastic Paraplegia Type 30
Spastic gait, Ataxia, Scissor gait, Leg muscle stiffness, Distal amyotrophy, Unsteady gait ORPHA:101010
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Spastic gait OMIM:610250
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Anosmia, Hypogonadism OMIM:615270
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Myopathy, Limb-girdle muscular dystrophy, Unstead... OMIM:612937
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism OMIM:612370
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Decreased testicular size, Bifid nose, Anosmia, Hypogonadotropic hypogonadism, Micropenis OMIM:614838
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... OMIM:620068
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Anosmia, Hypogonadism OMIM:615267
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Primary amenorrhea, Hyposmia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:244200
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... OMIM:602771
Autosomal Recessive Spastic Paraplegia Type 43
Knee flexion contracture, Spastic gait, Flexion contracture of finger, Difficulty walking, Ankle ... ORPHA:320370
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Short Stature Due To Ghsr Deficiency
Decreased body weight, Abnormality of body weight, Delayed puberty, Decreased serum insulin-like ... ORPHA:314811
Rigid Spine Syndrome
Hyperlordosis, Hip contracture, Spinal rigidity, Elbow flexion contracture, Myopathy, Skeletal mu... ORPHA:97244
Spinocerebellar Ataxia 43
Gait ataxia, Distal amyotrophy, Limb ataxia, Ataxia OMIM:617018
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Ataxia, Kyphoscoliosis, Distal lower lim... ORPHA:459033
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Kyphosis, Calf muscle hypertrophy, Internally nuc... OMIM:618138
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... ORPHA:231720
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Tip-toe gait, Amyotrophy of an... OMIM:160500
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weak... OMIM:607088
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... OMIM:614840
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, Thenar muscle atrophy, Distal lower limb muscle weakness, First dorsal in... ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Lower limb muscle weakness, Hand muscle atrophy, Increased connective tissue... OMIM:607684
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Distal lower limb amyotrophy, Gait disturbance, Distal upper limb amyotrophy, ... ORPHA:101077
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98853
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... OMIM:617114
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Distal amyotrophy, Calf muscle hypertrophy OMIM:618135
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Tip-toe gait, Increased adipose tissue, Kyphosis, Spinal rigidity, Gait disturbanc... OMIM:617404
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Kyphosis, Ataxia, Waddling gait, Scoliosis, Obesity, Broad-based gait, Lumbar ... OMIM:616756
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Obesity, Distal lo... ORPHA:171706
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Lower limb muscle weakness, Proximal lower limb amyotrophy, Pelvic girdl... OMIM:253400
Neuronopathy, Distal Hereditary Motor, Type Iid
Spinal muscular atrophy, Lower limb muscle weakness, Triceps weakness, Weakness of the intrinsic ... OMIM:615575
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Waddl... OMIM:609524
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysdiadochokinesis, Inguinal hernia, Dysmetria, Thenar muscle atrophy... OMIM:619903
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Distal amyotrophy, Lower limb muscle weakness, Ataxia ORPHA:100985
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Tip-toe g... ORPHA:267
Gemignani Syndrome
Skeletal muscle atrophy, Ataxia ORPHA:2074
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... OMIM:300695
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Delayed puberty, Anosmia, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogona... OMIM:147950
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Distal amyotrophy, Foot dorsiflexor weakness, Waddling gait OMIM:616040
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of... ORPHA:1135
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Spinocerebellar Ataxia Type 43
Gait ataxia, Limb ataxia, Foot dorsiflexor weakness, Distal lower limb muscle weakness, Distal am... ORPHA:497764
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Lower limb muscle weakness, Muscul... OMIM:254130
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Shoulder girdle muscle atrophy, Difficulty walking, Steppage gait, Scapul... ORPHA:437572
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... ORPHA:399103
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Steppage gait OMIM:302801
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Difficulty walking OMIM:158580
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... OMIM:267700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Generalized amyotrophy, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Gait di... OMIM:167320
Roussy-Lévy Syndrome
Gait ataxia, Lower limb muscle weakness, Limb ataxia, Kyphoscoliosis, Intrinsic hand muscle atrop... ORPHA:3115
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, EMG: myopathic abnormalities, Increased intramuscular fat, R... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Steppage gait OMIM:607677
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Tip-toe gait, Hip contracture, Lower limb muscle weaknes... OMIM:615290
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Myopathy, Distal, 4
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... OMIM:614065
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Gait disturbance, Ataxia, Skeletal muscle atrophy, Scoliosis ORPHA:101078
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Bardet-Biedl Syndrome 19
External genital hypoplasia, Hypogonadism, Hyposmia OMIM:615996
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait OMIM:607731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Steppage gait OMIM:607678
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Short nose, Depressed nasal bridge, Anosmia, Short nasal septum OMIM:302950
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Falls, Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Type 1 muscle fi... OMIM:608358
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Ataxia, Type 1 muscle fiber predominance, Failure to thrive, Skeletal muscle a... OMIM:618276
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism, Hyposmia OMIM:613724
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Loss of ambulation, Calf muscle pseudohypertroph... OMIM:604286
Myopathy, spheroid body
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy, Broad-based gait, Waddling gait OMIM:182920
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Tip-toe gait, Congenital muscular dystrophy, Achilles tendo... ORPHA:370980
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Distal Myotilinopathy
Loss of ability to walk in first decade, Multiple joint contractures, Abnormal muscle fiber myoti... ORPHA:98911
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Ataxia, Loss of ambulation, Foot dorsiflexor weakness, Scoliosis, Unsteady gait, Obesity OMIM:618124
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis OMIM:608673
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Lethargy, Skeletal muscle atrophy, Difficulty walking OMIM:613710
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Spastic Paraplegia 76, Autosomal Recessive
Gait ataxia, Lower limb muscle weakness, Ataxia, Dysmetria, Skeletal muscle atrophy, Difficulty w... OMIM:616907
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Ataxia, Hypercholesterolemia OMIM:616267
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... OMIM:278850
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone le... ORPHA:90795
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Impotence, Absence ... ORPHA:2232
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy OMIM:271200
Neuronopathy, Distal Hereditary Motor, Type Viib
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Distal amyotroph... OMIM:607641
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Scoliosis, Steppage gait OMIM:615376
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Skeletal muscle atrophy, Scoliosis, Distal amyotrophy OMIM:618184
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy ORPHA:2589
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Gait disturbance OMIM:615683
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Myopathy, Frontalis m... OMIM:300580
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle h... OMIM:604801
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Multiminicore Myopathy
Spinal rigidity, Abnormal muscle fiber morphology, Congenital muscular dystrophy, Failure to thri... ORPHA:598
Merrf
Multiple lipomas, Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Myopathy, Centronuclear, 1
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper li... OMIM:160150
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... ORPHA:64753
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Generalized amyotrophy, Spinal rigidity, Congenital muscular dystrophy, Achilles... OMIM:613205
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Ataxia, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy OMIM:617207
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ... OMIM:616516
Bethlem Myopathy 1
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... OMIM:158810
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Gait disturbance, Myopathy, Skelet... ORPHA:157973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Congenital musc... OMIM:606612
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... OMIM:614963
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis, Ataxia OMIM:619099
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Distal lower limb m... OMIM:619216
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Calf muscle hypertrophy, Gait disturbance, Kyphoscoliosis, Skeletal muscle atrophy ORPHA:101081
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Increased variability in muscle fiber diameter, Enamel hypoplasia, Inability to walk... OMIM:617915
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Spinal rigidity, Myopathy, Scoliosis OMIM:618323
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Multiple lipomas, Skeletal muscle atrophy ORPHA:3294
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Mitochondrial Dna Depletion Syndrome 18
Falls, Hand muscle atrophy, Weakness of facial musculature, Failure to thrive, Foot dorsiflexor w... OMIM:618811
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Kyph... OMIM:254090
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Steppage gait, D... OMIM:610099
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Upper limb muscle weakness, Difficulty walking, Hand muscle weakness OMIM:608323
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Loss of ambulation, Intrinsic hand muscle atrophy, Difficulty walking, Steppage gait... OMIM:614895
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Myopathy And Diabetes Mellitus
Tip-toe gait, Skeletal myopathy, Inability to walk, Distal lower limb amyotrophy, Weakness of orb... ORPHA:2596
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Hyperlordosis, Calf muscle hypertrophy, Muscular ... OMIM:613157
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Upper limb amyotrophy, Tip-toe gait, Kyphoscoliosis, Proximal muscle we... ORPHA:496689
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Distal amyotrophy, Cachexia, Nonprogressive muscular atrophy ORPHA:1216
Gordon Holmes Syndrome
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... OMIM:212840
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Loss of ambulation, Ske... ORPHA:352479
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Dysmetria, Skeletal muscle atrophy, Limb muscle weak... OMIM:607458
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... OMIM:310440
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Reduced muscle fiber ... ORPHA:206559
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Skeletal muscle atrophy, Spastic gait OMIM:613162
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Scoliosis, Steppage gait, Distal amyotrophy, Upper limb muscle weakness OMIM:302802
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Progressive intervertebral space narrowing, Ataxia, Ragged-red muscle fi... ORPHA:480
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Upper limb muscle we... OMIM:605588
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... OMIM:603553
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Spinal rigid... OMIM:608423
Distal Anoctaminopathy
Peroneal muscle atrophy, Rhabdomyolysis, Calf muscle pseudohypertrophy, Difficulty walking, Proxi... ORPHA:399096
Spastic Paraplegia 11, Autosomal Recessive
Tip-toe gait, Lower limb muscle weakness, Spastic gait, Ataxia, Thenar muscle atrophy, Skeletal m... OMIM:604360
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Generalized amyotrophy, Lower limb ... ORPHA:171881
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Kallmann Syndrome
Decreased fertility, Hyposmia, Anterior hypopituitarism, Decreased testicular size, Hypothalamic ... ORPHA:478
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Failure to thrive, Joint contracture, Spinal muscular atrophy OMIM:616081
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Spastic Paraplegia 2, X-Linked
Flexion contracture, Lower limb muscle weakness, Spastic gait, Dysmetria, Loss of ambulation, Ske... OMIM:312920
Fried Syndrome
Skeletal muscle atrophy, Gait disturbance, Scoliosis ORPHA:85335
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Gait imbalance, Spastic gait ORPHA:247604
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Prominent nose, Decreased serum estra... ORPHA:3464
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Myopathy, Rimmed vacuoles, Ragged-red muscle... ORPHA:270
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... OMIM:614302
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy, Difficulty walking, Spastic gait ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc... OMIM:613287
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty... OMIM:159950
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, Steppage gait, EMG: myopathic abnormalities OMIM:600334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617069
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398079
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Generalized amyotrophy, Choreoathetosis, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy... OMIM:617519
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Left ventricular hypertrophy, Gait disturbance, Hypomimic face, Dysmetria, Sco... ORPHA:93952
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Charcot-Marie-Tooth Disease, Type 4B3
Lower limb muscle weakness, Gait disturbance, Loss of ambulation, Skeletal muscle atrophy, Scolio... OMIM:615284
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Foot dorsiflexor weakness, Steppage gait, Scoliosis, Distal amyotrophy, Limb muscle weakness OMIM:608340
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Skeletal muscle atrophy, Ataxia OMIM:183050
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Lipodystrophy, Myopathy, Skeletal muscle atrophy,... OMIM:615980
Leber Optic Atrophy And Dystonia
Athetosis, Skeletal muscle atrophy, Scoliosis, Bradykinesia OMIM:500001
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Dysmetria, Skeletal muscle atrophy OMIM:618251
Duchenne And Becker Muscular Dystrophy
Hyperlordosis, Gait disturbance, Myopathy, Skeletal muscle atrophy, Scoliosis ORPHA:262
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Hyperlordos... OMIM:181405
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Lumbar hyperlordosis OMIM:613723
Narcolepsy Type 1
Obesity ORPHA:2073
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Tip-toe gait, Gait imbalance, Hand muscle atrophy, Gait disturbance, Difficulty walking, Steppage... ORPHA:435387
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Scoliosis, Generalized amyotrophy OMIM:616540
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Claw hand deformity, Spinal muscular atrophy OMIM:605726
Aarskog-Scott Syndrome
Wide nasal bridge, Shawl scrotum, Bilateral cryptorchidism, Short nose, Testicular atrophy, Delay... OMIM:305400
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Muscular dystrophy, Difficulty walking, Proximal amyotrophy, Scapular wi... OMIM:601287
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Duchenne Muscular Dystrophy
Flexion contracture, Calf muscle hypertrophy, Skeletal muscle atrophy, Scoliosis, Waddling gait ORPHA:98896
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Scoliosis, Ataxia ORPHA:1188
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Falls, Generalized amyotrophy, Gait disturbance, Pelvic girdle muscle weakness, My... OMIM:615156
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge ORPHA:2229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized am... OMIM:258450
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Marinesco-Sjogren Syndrome
Gait ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, Limb atax... OMIM:248800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Kyphosis, Facial diplegia, Short neck, Skeletal muscle atrophy, Difficulty wal... OMIM:611890
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Neonatal death, Failure to thrive OMIM:614096
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Akinesia, Nemaline bodies, Neonatal death, Arthro... OMIM:619334
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Thenar muscle atrophy, Foot dorsiflexor weakness, Difficulty walking, Steppage gait, Distal amyot... OMIM:606483
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Bifid scrotum, Hypoplasia of penis, Short nose, Anosmia, Hypogonadot... ORPHA:1295
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Amyotrophy of ankle musculature, Upper limb amyotrophy, Distal lower limb amyotrophy... ORPHA:90103
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Kyphosis, Ataxia, Skeletal muscle atrophy, Scoliosis, Platy... OMIM:230650
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Ataxia, Abnormality of the musculature of the lower limbs, Difficulty walking, Scoliosi... ORPHA:464282
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Skeletal muscle atrophy, Difficulty walking, Ataxia OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Limb muscle weakness, Facial palsy OMIM:118210
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Atrophic scars, Disproportionate tall stature, Kyphoscoliosis, Myopathy, Skeletal muscle ... ORPHA:300179
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Neuropathy, Congenital, With Arthrogryposis Multiplex
Distal amyotrophy, Hyperlordosis, Broad-based gait, Arthrogryposis multiplex congenita OMIM:162370
Nemaline Myopathy 10
Flexion contracture, Fatty replacement of skeletal muscle, Facial palsy, Nemaline bodies, Skeleta... OMIM:616165
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Foot dorsiflexor weakness, Steppage gait, Scoliosis, Distal amyotrophy, Limb... OMIM:609260
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Autosomal Dominant Spastic Paraplegia Type 17
Abnormality of the foot musculature, Spastic gait, Hand muscle atrophy, Foot dorsiflexor weakness... ORPHA:100998
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi... OMIM:310300
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Gorlin Syndrome
Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Wide nasal bridge, Cryptorchidism ORPHA:377
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Premature ovarian insufficiency, Neoplasm of the pancreas, Delayed pub... ORPHA:2959
Charcot-Marie-Tooth Disease Type 2B1
Toe extensor amyotrophy, Peroneal muscle atrophy, Inability to walk, Hand muscle atrophy, Proxima... ORPHA:98856
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy, Limb... OMIM:618387
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Scoliosis, Kyphosis, Truncal obesity ORPHA:2429
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Facial palsy, Lumbar ... ORPHA:353327
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Fetal Akinesia Deformation Sequence 4
Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, Neonatal death, Arthrogryposis mult... OMIM:618393
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Myopathy, Centronuclear, 2
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyot... OMIM:255200
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Disproportionate tall stature... OMIM:606631
Spastic Paraplegia 30, Autosomal Dominant
Lower limb muscle weakness, Spastic gait, Ataxia, Dysmetria, Lower limb amyotrophy OMIM:610357
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Flexion contracture, Proximal muscle weakness in lower limbs, Impaired tandem gait, Loss of ambul... ORPHA:101097
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Inability to walk, Type 1 fibers relatively smaller t... ORPHA:596
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hyperlordosis, Enamel hypoplasia, Irregular vertebral endplates, Hip contracture, Inguinal hernia... OMIM:618363
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Wide nose, Cleft ala nasi, Decreased testicular size, Narrow nasal base, Type I diabetes mellitus... ORPHA:3044
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Shox-Related Short Stature
Obesity, Short neck, Scoliosis, Skeletal muscle hypertrophy ORPHA:314795
Dengue Fever
Hypoproteinemia ORPHA:99828
Non-Functioning Pituitary Adenoma