Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Magel2em2(IMPC)H HOM Early adult 6.65×10-08

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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, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absence of pube... ORPHA:398069
Schaaf-Yang Syndrome
Failure to thrive in infancy, Arthrogryposis multiplex congenita, Kyphosis, Inability to walk, Fl... OMIM:615547
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... ORPHA:177901

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
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... OMIM:618655
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Spastic gait, Knee flexion contracture, Tip-toe gait, Thoracic scoliosis... ORPHA:401785
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Increased connective tis... OMIM:601954
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:601472
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Foot dorsiflexor weakness, Gait disturbance, Skeletal muscle atrophy OMIM:614881
Neuronopathy, Distal Hereditary Motor, Type Iic
Skeletal muscle atrophy, Steppage gait, Distal lower limb muscle weakness, Lower limb muscle weak... OMIM:613376
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Spastic gait, Tip-toe gait, Thoracic scoliosis, Difficulty walking OMIM:615681
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia, Decreased testicular size OMIM:616030
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... OMIM:618848
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Difficulty walking OMIM:615025
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... OMIM:619042
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Skeletal muscle atrophy, Scissor gait ORPHA:401805
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Hyperlordosis, Calf muscle hypertrophy, ... OMIM:617760
Nonaka Myopathy
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... OMIM:605820
Spinal Muscular Atrophy, Distal, X-Linked 3
Unsteady gait, Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... OMIM:256030
Polyglucosan Body Myopathy 2
Difficulty walking, Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... OMIM:608099
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Impaired social interactions, Absence of secondary sex characteristics... ORPHA:163976
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Shyness, Prominent nasal bridge, Absence of secondary sex characteristics, Increased... ORPHA:163971
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia, Decreased testicular size, ... OMIM:614897
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Tall stature, Waddling gait,... ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Steppage gait, Gait disturbance, Distal amyotrophy OMIM:616625
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:614839
Welander Distal Myopathy
Steppage gait, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchid... OMIM:612702
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Spastic gait, Thenar muscle atrop... OMIM:612335
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Thenar muscle weakness, Spastic gait, Thenar muscle atrop... OMIM:270685
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness OMIM:611225
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... OMIM:610628
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... OMIM:611369
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Hyposmia OMIM:615996
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Decreased testicular size, Primary amenorrhea OMIM:614858
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Ataxia, Scoliosis, Limb ataxia, Gait ataxia, Lower limb muscle weakness ORPHA:488594
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Gait disturbance, Knee flexion contracture, Distal amyotrophy OMIM:615043
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Difficulty walking OMIM:616282
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Spastic Paraplegia 63, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Scissor gait OMIM:615686
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion... OMIM:300718
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Bulbous nose, Cryptorchidism, Decreased t... OMIM:300869
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the uterus OMIM:614842
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Skeletal muscle atrophy OMIM:612539
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Amyotrophic Lateral Sclerosis Type 4
Gait disturbance, Skeletal muscle atrophy ORPHA:357043
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... OMIM:609285
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Gait disturbance, Myopathy, Back pain, Hyperlordosis, Scapular winging, Musc... OMIM:618129
Bethlem Myopathy 2
Myopathy, Atrophic scars, Kyphosis, Increased variability in muscle fiber diameter, Flexion contr... OMIM:616471
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapular wi... OMIM:300695
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... ORPHA:280333
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Distal Myopathy, Welander Type
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... ORPHA:603
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Progressive distal muscular atrophy, Kyphoscoliosis, Distal lower limb muscle weakness,... ORPHA:459033
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Pyknoachondrogenesis
Stillbirth OMIM:265880
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Skeletal muscle atrophy, Scoliosis OMIM:618244
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... OMIM:500002
49,Xxxyy Syndrome
External genital hypoplasia, Wide nasal bridge, Increased circulating gonadotropin level, Micrope... ORPHA:261534
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Joint contracture of the hand, Waddling gait, Hyperlordosis, Distal a... OMIM:611067
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Depressed nasal bridge, Azoospermia, Hypogonadotro... ORPHA:432
Myofibrillar Myopathy 11
Z-band streaming, Shoulder girdle muscle atrophy, Generalized amyotrophy, EMG: myopathic abnormal... OMIM:619178
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Thoracolumbar scoliosis, Facial palsy, Spin... OMIM:255600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Hyposmia OMIM:615267
Dysequilibrium Syndrome
Ataxia, Gait disturbance, Skeletal muscle atrophy ORPHA:1766
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Skeletal muscle atrophy, Flexion contracture OMIM:611105
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... OMIM:612937
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Anosmia, Decreased testicular size, Hyposmia OMIM:614838
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... ORPHA:34516
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism OMIM:612370
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Increased intramyocellular lipid droplets, Ataxia, Increa... OMIM:619065
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Skeletal muscle atrophy, Difficulty walking, Calf muscle hypertrophy OMIM:615048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Kyphosis, P... OMIM:618138
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Depressed nasal bridge OMIM:113480
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Difficulty walking, Increased... ORPHA:399058
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Waddling gait, Increa... OMIM:616924
Autosomal Spastic Paraplegia Type 30
Scissor gait, Spastic gait, Leg muscle stiffness, Ataxia, Distal amyotrophy, Unsteady gait ORPHA:101010
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Spinal rigidity, Wadd... ORPHA:97244
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased serum insulin-like growth factor 1, Decreased... ORPHA:314811
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Spastic gait, Knee flexion contracture, Distal amyotrophy, Flexion con... ORPHA:320370
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, ... OMIM:607088
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... ORPHA:171442
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Skeletal muscle atrophy, Scoliosis OMIM:618184
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Thenar muscle atrophy, Distal amy... ORPHA:139536
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Anosmia OMIM:244200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity, Scoliosi... OMIM:616756
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Gait disturbance, Hand muscle weakness, Distal upper lim... ORPHA:101077
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Gait ataxia, Distal amyotrophy OMIM:617018
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity, Foot dorsiflexor weakness, Scoliosis OMIM:618124
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Skeletal muscle atrophy, Failure to thrive, Ataxia, Inability to walk OMIM:618276
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... OMIM:609524
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Spinocerebellar Ataxia Type 43
Progressive cerebellar ataxia, Distal amyotrophy, Unsteady gait, Distal lower limb muscle weaknes... ORPHA:497764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Pituitary hypothyroidism, Gonadotropin deficiency, Anterior pituitary hypoplasia, Hypothalamic lu... ORPHA:231720
Neuronopathy, Distal Hereditary Motor, Type Iid
Triceps weakness, Weakness of the intrinsic hand muscles, Difficulty walking, Spinal muscular atr... OMIM:615575
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Waddling gai... ORPHA:363454
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Facial palsy, Nemaline bodies, Increased connective tissue, Flexion contracture, D... OMIM:607684
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Obesity, Distal lower limb muscle weakness, Fatty replac... ORPHA:171706
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia OMIM:302950
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Gemignani Syndrome
Ataxia, Skeletal muscle atrophy ORPHA:2074
Spastic Paraplegia 31, Autosomal Dominant
Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis ORPHA:496756
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Generalized amyotrophy, Congenital muscular dystrophy, Spinal rigidity, Flexio... OMIM:613205
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... OMIM:254130
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Distal amyotrophy OMIM:158580
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Hypogonadotropic hypogo... ORPHA:1135
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Skeletal muscle atrophy, Ataxia, Scoliosis OMIM:618239
Autosomal Dominant Spastic Paraplegia Type 4
Ataxia, Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness ORPHA:100985
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity, Skeletal muscle atrophy OMIM:613402
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Failure to thrive, Torticollis, Slender build, Generalized amyotrophy... OMIM:254090
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Foot dorsiflexor weakness, Waddling gait, Distal amyotrophy OMIM:616040
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Upper limb amyotrophy, Kyphoscoliosis, Knee flexion contracture, Proximal muscle weakness in uppe... ORPHA:496689
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Recurrent upp... ORPHA:99330
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Achilles tendon contracture, Knee flexion contracture, Waddling gait, Tip-toe ga... OMIM:615290
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607731
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Sc... OMIM:616228
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Scoliosis, Distal amyotro... ORPHA:3115
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Waddling gait, Broad-based gait OMIM:182920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Foot dorsiflexor weakness, Upper limb muscle weakness, Distal amyotrophy OMIM:607678
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Ataxia, Scoliosis ORPHA:101078
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... ORPHA:370980
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Should... OMIM:167320
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... ORPHA:98911
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Myopathy, Distal, 1
Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Facial palsy, Rimmed vacuole... OMIM:160500
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... OMIM:614065
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Scoliosis, Distal amyotrophy OMIM:608673
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Skeletal muscle atrophy, Difficulty walking, Lethargy OMIM:613710
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Choanal atresia, Cryptorchidism, A... OMIM:147950
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Rimmed vacuoles, Spinal rigidity, Flexion contracture, Scapular winging, Short neck OMIM:300696
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... OMIM:614963
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Distal amyotrophy, Lower limb muscle weakness, Hand muscle at... OMIM:607641
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Generalized amyotrophy, Scoliosis OMIM:616540
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Upper limb amyotrophy, Calf muscle hypoplasia, Distal lower limb am... ORPHA:90103
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness, Scoliosis OMIM:617207
Merrf
Ataxia, Myopathy, Ragged-red muscle fibers, Multiple lipomas ORPHA:551
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coronal cleft vertebrae, Irregular vertebral endplates, Abnormal vertebral morph... OMIM:618363
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Dysmetria, Ataxia, Scoliosis, Gait ataxia, Lower limb muscle weakness, D... OMIM:616907
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Distal upper limb amyotrophy, Kyphosis, Distal lower limb amyotrophy, Ataxia, S... ORPHA:101075
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Spastic Paraplegia 64, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy OMIM:615683
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Fl... ORPHA:157973
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas ORPHA:3294
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Pontocerebellar Hypoplasia, Type 1C
Failure to thrive, Spinal muscular atrophy, Skeletal muscle atrophy, Flexion contracture OMIM:616081
Myopathy, Distal, 3
Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Musc... OMIM:610099
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, Joint contra... ORPHA:399086
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Gait disturbance, Slender build, Facial palsy, Generalized amyotrophy, Limb-girdle muscle weakness OMIM:615156
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Charcot-Marie-Tooth Disease Type 1A
Gait disturbance, Skeletal muscle atrophy, Gait imbalance, Kyphoscoliosis, Calf muscle hypertrophy ORPHA:101081
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Gm1-Gangliosidosis, Type Iii
Dystonia, Skeletal muscle atrophy, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar... OMIM:230650
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Generalized amyotrophy, Progressive gait ataxia ORPHA:2589
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Distal amyotrophy OMIM:618438
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Mitochondrial Dna Depletion Syndrome 18
Weakness of facial musculature, Failure to thrive, Falls, Distal amyotrophy, Foot dorsiflexor wea... OMIM:618811
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... ORPHA:34515
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... ORPHA:352479
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Gait disturbance, Myopathy, Minicore myopathy, Failure to thrive, EM... ORPHA:424107
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Adenohypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95512
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... OMIM:616470
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Wide nasal bridge, Hypergonadotropic hypogonadism ORPHA:2229
Hyperinsulinism Due To Hnf1A Deficiency
Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin ... ORPHA:324575
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Panhypophysitis
Increased circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Hashimoto ... ORPHA:95513
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Typical Nemaline Myopathy
Gait disturbance, Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ky... ORPHA:171436
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Scoliosis OMIM:302802
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia, Dysdiadochokin... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor we... OMIM:605588
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamete... OMIM:619334
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Skeletal muscle atrophy, Facial diplegia, Neonatal death, Arthrogryposis multiplex cong... OMIM:611890
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... ORPHA:206559
Woodhouse-Sakati Syndrome
Prominent nose, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tu... ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Lumbar hyperlordosis, Tip... ORPHA:171881
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Hyposmia, Hypogonadotropic hypogonadism, Erecti... ORPHA:478
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Spondyloli... ORPHA:270
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy OMIM:182980
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, Achilles tendon contract... OMIM:181350
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Spinal rigidity, Increased endomysial connective t... OMIM:617072
Juvenile Primary Lateral Sclerosis
Spastic gait, Skeletal muscle atrophy, Gait imbalance ORPHA:247604
Fried Syndrome
Gait disturbance, Skeletal muscle atrophy, Scoliosis ORPHA:85335
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Increased variab... ORPHA:119
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Dystonia, Ataxia, Increased variability in muscle fiber di... ORPHA:401768
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Limb muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Scoliosis OMIM:608340
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Spastic gait, Ataxia, Tip-toe gait, Thenar muscle atrophy, Obesity, Lowe... OMIM:604360
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Scoliosis, Congenital c... OMIM:605637
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture OMIM:613723
Kearns-Sayre Syndrome
Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atr... ORPHA:480
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Recurr... ORPHA:263458
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Dysmetria, Left ventricular hypertrophy, Hypomimic face, Inability to walk, Uns... ORPHA:93952
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Waddling gait, Calf muscle hypertrophy, Flexion contracture, Scoliosis ORPHA:98896
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyphosis, W... OMIM:255200
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Axial dystonia, Increased variability in muscle fiber diameter, Fle... OMIM:619026
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Difficulty wa... OMIM:601287
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Bethlem Myopathy
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... ORPHA:610
Combined Oxidative Phosphorylation Deficiency 6
Increased connective tissue, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Campt... OMIM:618393
Duchenne And Becker Muscular Dystrophy
Gait disturbance, Myopathy, Skeletal muscle atrophy, Hyperlordosis, Scoliosis ORPHA:262
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... ORPHA:398079
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Generalized amyotrophy, Difficulty walking ORPHA:401820
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Difficulty walking, Scoliosis, Limb muscle weakness OMIM:614895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... OMIM:248800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Steppage gait, Generalized amyotrophy, Facial palsy, EMG: myopathic abn... OMIM:258450
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Distal upper limb amyotrophy, Joint contracture of the hand, Broad-based gait, Distal amyotrophy,... OMIM:258650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Obesity, Ataxia OMIM:614947
Narcolepsy Type 1
Obesity ORPHA:2073
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Skeletal muscle atrophy, Scoliosis ORPHA:1188
Siddiqi Syndrome
Lower limb amyotrophy, Flexion contracture, Limb dystonia OMIM:618635
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Foot dorsiflexor weakness, Distal amyotrophy OMIM:618400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Disproportionate tall stature, Myopathy, Skeletal muscle atrophy, Kyphoscoliosis, Atrophic scars,... ORPHA:300179
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Dysmetria, Skeletal muscle atrophy OMIM:618251
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Proximal muscle weakness in lower limbs, Hand muscle weaknes... ORPHA:101097
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Waddling gait, Calf muscle pseudohypertrophy, Distal amy... ORPHA:399096
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Gait disturbance, Gait imbalance, Steppage gait, Quadric... ORPHA:435387
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short nose, Anosmia, Abnormali... ORPHA:1295
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy, Limb muscle weakness OMIM:118210
Charcot-Marie-Tooth Disease Type 2B1
Proximal amyotrophy, Toe extensor amyotrophy, Peroneal muscle atrophy, Proximal muscle weakness i... ORPHA:98856
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... ORPHA:2959
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Elevated... OMIM:305400
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Waddling gait, Facial palsy, Distal amyotrophy OMIM:254300
Hereditary Motor And Sensory Neuropathy V
Foot dorsiflexor weakness, Distal amyotrophy, Difficulty walking, Limb muscle weakness OMIM:600361
Camurati-Engelmann Disease, Type 2
Disproportionate tall stature, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture... OMIM:606631
Myopathy, Myofibrillar, 6
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... OMIM:612954
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Spastic gait, Abnormality of the foot musculature, Distal amyotrophy, Foot ... ORPHA:100998
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized amyotrophy, Small for gestational age OMIM:618910
Autosomal Recessive Spastic Paraplegia Type 74
Distal lower limb muscle weakness, Difficulty walking, Distal amyotrophy ORPHA:468661
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Skeletal muscle atrophy, Bradykinesia OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Limb muscle weakness, Steppage gait, Flexion contracture, Distal amyotrophy, Foot dorsiflexor wea... OMIM:609260
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Wide nose, Cleft ala nasi, Type I diabet... ORPHA:3044
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism ORPHA:377
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, Flexion c... OMIM:160150
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Arthrogryposis multiplex congenita, Broad-based gait, Distal amyotrophy OMIM:162370
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Skeletal muscle atrophy, Inability to walk, Oculogyric crisis, Scoliosis, Difficulty wa... ORPHA:330050
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Ataxia, Inability to walk, Unsteady gait, Obesity, Scoliosis OMIM:618443
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Inability to... ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Skeletal muscle atrophy, Limb muscle weakness OMIM:613287
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Scoliosis, Distal amyotrophy OMIM:601382
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Spastic gait, Kyphoscoliosis, Facial hypotonia, Bradykinesia, Shuffling gait, Wrist fle... OMIM:300055
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex congenita, Ky... OMIM:618484
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Scoli... OMIM:618291
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Dysmetria, Spastic gait, Flexion contracture, Lower limb muscle weakness OMIM:312920
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Microcephaly, Abnormality of the basal ganglia ORPHA:67046
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, EMG: myopathic abnormalities, Akinesia OMIM:618822
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Ataxia, Distal amyotrophy, Foot dorsiflexor weakness, Gait ataxia OMIM:618387
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture, Reduced subcutaneous adipose tissue OMIM:612079
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Oromandibular dystonia, Bradykinesia, Tip-toe gait, Distal amyotrophy OMIM:615643
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Scoliosis, Truncal obesity, Kyphosis ORPHA:2429
Shox-Related Short Stature
Obesity, Short neck, Scoliosis, Skeletal muscle hypertrophy ORPHA:314795
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Ovarian Dysgenesis 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
Spastic Paraplegia 30, Autosomal Dominant
Dysmetria, Spastic gait, Ataxia, Lower limb muscle weakness, Lower limb amyotrophy OMIM:610357
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Distal amyotrophy OMIM:610100
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed... ORPHA:52430
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... OMIM:262700
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Waddling gait, Facial palsy OMIM:610542
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Obesity, Failure to thrive in infancy OMIM:613670
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Steppage gait, Foot dorsiflexor weakness, Distal amyotrophy OMIM:606483
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated ... OMIM:613530
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystrophy, Calf muscle hypertr... OMIM:616827
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Spinal muscular atrophy OMIM:253300
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis OMIM:301900
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers, Failure to th... OMIM:500009
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Baralle-Macken Syndrome
Dystonia, Obesity, Inability to walk, Kyphosis OMIM:619255
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Charcot-Marie-Tooth Disease Type 4G
Upper limb amyotrophy, Gait imbalance, Loss of ambulation, Difficulty walking, Distal amyotrophy,... ORPHA:99953
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Ataxia, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Increased variability i... OMIM:617675
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Ataxia, Distal amyotrophy OMIM:607317
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrophy, Scoliosis, Difficulty... OMIM:159950
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature, ... ORPHA:254875
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... OMIM:616867
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Weakness of facial musculature, Spinal deformities, Joint contracture of th... ORPHA:99948
Charcot-Marie-Tooth Disease Type 4D
Upper limb amyotrophy, Kyphoscoliosis, Inability to walk, Unsteady gait, Distal lower limb muscle... ORPHA:99950
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Kyphosis, Ataxia, Waddling gait, Unsteady gait, Obesity, Scoliosis, Difficulty walking ORPHA:464282
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Obesity ORPHA:2206
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... OMIM:301830
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Calf muscle hypertrop... ORPHA:565899
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Gait disturbance, Steppage gait, EMG: myopathic abnormalities, Inability to walk, Distal amyotrop... ORPHA:99939
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab...