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Gene: Magel2 MGI:1351648

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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 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
decreased circulating serum albumin level Magel2em2(IMPC)H HOM Early adult 6.04×10-07

Download data as:  TSV  XLS

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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
Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d... ORPHA:398069
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Kyphosis, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... 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
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Inability to... ORPHA:482601
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... OMIM:158600
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... OMIM:618841
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... OMIM:614841
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Knee flexion contracture, Tip-toe gait, Difficulty w... ORPHA:401785
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... OMIM:146110
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Steppage gait, Gait disturbance, Di... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... OMIM:614839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... OMIM:601954
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Gait disturbance, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis, Tip-toe gait, Difficulty walking, Spastic gait OMIM:615681
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness, Difficulty walking OMIM:615025
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Decreased body weight ORPHA:401805
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy OMIM:300489
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... OMIM:608099
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus... OMIM:300717
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Inability to walk, Kyphosis, Gait disturbance, Scoliosis, Joint contract... OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:618036
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Steppage gait, Gait disturbance OMIM:616625
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... OMIM:614858
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:612335
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Scoliosis, Lower limb muscle weakness ORPHA:488594
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Prominent nasal bridge, Hypospadias, Shyness, Cryptorchidism, Inc... ORPHA:163971
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal de... OMIM:610628
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep... OMIM:620389
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Gait disturbance ORPHA:357043
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Spastic gait OMIM:612539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Loss of ambulation, Inc... OMIM:253601
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, Gait disturbance, Loss of... OMIM:615043
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-... OMIM:616228
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... OMIM:612702
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa... OMIM:609285
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Nemaline Myopathy 6
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies OMIM:609273
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Absence of pubertal development, Decrease... OMIM:614837
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy... ORPHA:280333
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
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
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v... OMIM:616471
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Bulbous nose, Hypogonadism, Decreased s... OMIM:300869
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Pyknoachondrogenesis
Stillbirth OMIM:265880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... ORPHA:266
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotro... OMIM:611067
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity,... ORPHA:86812
Dysequilibrium Syndrome
Skeletal muscle atrophy, Ataxia, Gait disturbance ORPHA:1766
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Normosmic Congenital Hypogonadotropic Hypogonadism
Depressed nasal bridge, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoos... ORPHA:432
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Scissor gait, Gait disturbance OMIM:615686
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture, Ataxia OMIM:611105
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid con... ORPHA:171439
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Loss of ambulation, Lower limb amyotrophy OMIM:615658
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Difficulty walking OMIM:615048
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Autosomal Spastic Paraplegia Type 30
Ataxia, Unsteady gait, Scissor gait, Distal amyotrophy, Leg muscle stiffness, Spastic gait ORPHA:101010
Diarrhea 13
Hypoalbuminemia OMIM:620357
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigi... OMIM:255600
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Lumbar hyperlor... ORPHA:353
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Spastic gait OMIM:610250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... OMIM:612937
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Distal amyot... OMIM:607684
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, Difficulty walking, Flexi... ORPHA:320370
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Inability to walk, Intrinsic hand muscle atro... ORPHA:101077
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... ORPHA:314811
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, Upper limb muscle weakness, Distal ... ORPHA:139536
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... OMIM:614880
Spinocerebellar Ataxia 43
Distal amyotrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Rigid Spine Syndrome
Waddling gait, Hip contracture, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Elbow fl... ORPHA:97244
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Absence of pubertal development OMIM:615267
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98853
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... OMIM:160500
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb... OMIM:616924
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Distal amyotrophy, Foot dorsiflexor weakness, Proximal amyotrophy OMIM:616040
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Spinal ri... OMIM:617066
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size OMIM:614838
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis OMIM:244200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Difficulty walking, Scoliosis, Lower limb amyotrophy, Foot dorsi... OMIM:617087
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity, Muscular dystrophy, Distal ... ORPHA:459033
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Difficulty walking, Weakness of the intrinsi... OMIM:615575
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Distal amyotrophy OMIM:618135
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability to walk, Kyphosis, Obesi... OMIM:616756
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet... OMIM:619473
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proximal amyotrophy, Tip-toe ... OMIM:617404
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak... OMIM:253400
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:302801
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle w... OMIM:619903
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Lower limb muscle weakness, Ataxia, Leg muscle stiffness ORPHA:100985
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Gemignani Syndrome
Skeletal muscle atrophy, Ataxia ORPHA:2074
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:607678
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus... OMIM:608340
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Distal amyotrophy, Distal... ORPHA:497764
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Ataxia, Failure to thrive in infancy, Increased i... OMIM:619065
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Inability to walk, Ragged-red muscle fibers, Increased i... ORPHA:276435
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... OMIM:254130
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Unsteady gait, Intrinsic hand muscle atrophy, Gait ataxi... ORPHA:3115
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, Flexion con... ORPHA:75840
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Failure to ... OMIM:618276
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy, Difficulty walking OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy, Steppage gait OMIM:607677
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Hype... OMIM:615290
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... OMIM:608358
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Kyphosis, Unsteady gait, Obesity, Scoliosis, Loss of ambulation, Foot dorsiflexor weakness OMIM:618124
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:607731
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela... OMIM:147950
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... ORPHA:98911
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Steppage gait, Scoliosis OMIM:615376
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... OMIM:620285
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Inability to walk, Facial diplegia, Distal amyotrophy, Scoliosis OMIM:618184
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Scoliosis OMIM:620323
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Gait disturbance OMIM:615683
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestati... OMIM:601820
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Dysmetria, Gait ataxia, Difficulty walking, Scoliosis, Lower lim... OMIM:616907
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue ORPHA:238329
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy, Difficulty walking OMIM:613710
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... OMIM:607641
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... ORPHA:90795
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, S... ORPHA:101075
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spinal muscular atrophy, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness OMIM:617207
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy ORPHA:2589
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... OMIM:613205
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy, Difficulty walking, Hand muscle weakness OMIM:608323
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia, Multiple lipomas ORPHA:551
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Scoliosi... OMIM:616516
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion contracture, Myopathy,... ORPHA:157973
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle hypertrophy, Gait disturbance, Gait imbalance ORPHA:101081
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Spinal rigid... ORPHA:486815
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber diameter, Enamel hy... OMIM:617915
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Falls, Scoliosis, Weakness of facial musculature, Failure... OMIM:618811
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Proximal amyotrophy... ORPHA:2596
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas ORPHA:3294
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Broad-based gait, Intrinsic hand muscle atrophy, Gait ataxia, Distal amy... OMIM:614895
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Myopathy, Distal, 3
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... OMIM:610099
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... OMIM:212840
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... ORPHA:324575
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weak... OMIM:607458
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... ORPHA:206559
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture, Spastic gait OMIM:613162
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci... OMIM:620265
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Scoliosis, Left ventricul... ORPHA:93952
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor we... OMIM:605588
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, At... ORPHA:480
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Scoliosis, Foot dorsiflexor weakness OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex... OMIM:613287
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Obesity, Tip-toe gait, Lower limb muscle ... OMIM:604360
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... OMIM:608423
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormality... OMIM:616113
Fried Syndrome
Skeletal muscle atrophy, Gait disturbance, Scoliosis ORPHA:85335
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Obesity OMIM:620270
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis OMIM:618244
Bardet-Biedl Syndrome 19
Hyposmia, Hypogonadism, External genital hypoplasia OMIM:615996
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Steppage gait, Difficulty wa... ORPHA:399086
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... OMIM:603553
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet... OMIM:620161
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Dysmetria, Loss of ambulation, Lower limb muscle we... OMIM:312920
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, P... OMIM:241080
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic gait, Gait imbalance ORPHA:247604
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... OMIM:617519
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Claw hand deformity, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:605726
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Scoliosis ORPHA:98896
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Generalized amyotrophy, Difficulty walking ORPHA:401820
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Spondyloli... ORPHA:270
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... ORPHA:97240
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Narcolepsy Type 1
Obesity ORPHA:2073
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Fl... ORPHA:171436
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Myasthenic Syndrome, Congenital, 12
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Skeletal muscle atrophy, Ataxia OMIM:183050
Leber Optic Atrophy And Dystonia
Bradykinesia, Skeletal muscle atrophy, Athetosis, Scoliosis OMIM:500001
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Myopathy, Abdominal obesity, Muscul... OMIM:615980
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing hormone level, Bre... ORPHA:3044
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive, Dysmetria OMIM:618251
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Gait disturbance, Scoliosis, Loss of ambulat... OMIM:615284
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Erectile dysfunction, ... ORPHA:465508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotroph... OMIM:615156
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Broad-based gait,... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118210
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... OMIM:603511
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Scoliosis ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Distal amyotrophy, Steppage gait, Scoliosis, Limb muscle weakness, Foot dors... OMIM:609260
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Scoliosis, Gait ataxia OMIM:616540
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d... ORPHA:398069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... OMIM:601287
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... OMIM:248800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Unsteady gait... ORPHA:464282
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v... OMIM:230650
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Inability to walk, Kyphosis, Facial diplegia, Difficulty wal... OMIM:611890
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Thenar muscle atrophy, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor wea... OMIM:606483
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Disproportionate tall stature, Atrophic scars,... ORPHA:300179
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries ORPHA:2229
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Arthrogryposis Multiplex Congenita 6
Akinesia, Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthro... OMIM:619334
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Broad-based gait, Hyperlordosis OMIM:162370
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Kyphosis, Gait disturbance, Scoliosis ORPHA:2429
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... ORPHA:1295
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... ORPHA:98856
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Distal amyotrophy... ORPHA:100998
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Gait ataxia, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dors... OMIM:618387
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... ORPHA:2959
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... OMIM:255200
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Flexion contracture, Obesity, Choreoathetos... OMIM:300055
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... OMIM:618393
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Steppage gait OMIM:610100
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Lower limb muscle weakness, Dysmetria, Lower limb amyotrophy, Spastic gait OMIM:610357
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... OMIM:226670
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Truncal obesity, Irregu... OMIM:618363
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb... ORPHA:353327
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Ovarian Dysgenesis 6
Primary amenorrhea, Hypergonadotropic hypogonadism, Absence of pubertal development, Hypoplasia o... OMIM:618078
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... ORPHA:596
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness, Steppage gait OMIM:620378
Dengue Fever
Hypoproteinemia ORPHA:99828
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity, Scoliosis, Short neck ORPHA:314795
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Camurati-Engelmann Disease, Type 2
Waddling gait, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion co... OMIM:606631
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Skeletal muscle atrophy, Scoliosis, Difficulty walking ORPHA:330050
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Scoliosis, Ataxia, Gait disturbance OMIM:618239
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Lower limb muscle weakness, Steppage gait, Gait disturbance, Falls, Diffic... OMIM:617882
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Myopathy, Myofibrillar, 6
Scapular winging, Thoracic scoliosis, Facial palsy, Spinal rigidity, Knee flexion contracture, Ti... OMIM:612954
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity, Akinesia OMIM:618822
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ataxia, Increased variability in muscle fiber diameter, Gait disturbance OMIM:125250
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Muscular Dystrophy, Limb-Girdle, Type 1H
Increased connective tissue, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:613530
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Facial palsy, Scoliosis OMIM:601382
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance ORPHA:99944
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Gait disturbance... ORPHA:99939
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Steppage gait, Gait disturbance... OMIM:118300
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Multiple lipomas, Distal amyotrophy, Dysdiadoc... OMIM:617675
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Centrally nucleated skeletal muscle fibers, Difficulty walking, Increased variability in ... ORPHA:401768
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Hand muscle weakness, Quadriceps muscle weakness, Denervation of ... ORPHA:99948
Charcot-Marie-Tooth Disease Type 4G
Upper limb amyotrophy, Distal amyotrophy, Gait imbalance, Difficulty walking, Scoliosis, Loss of ... ORPHA:99953
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Increased connective tissue, Macroglossia, Calf muscle hypertrophy, Musc... OMIM:616827
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Obesity ORPHA:2206
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta... OMIM:620351
Myasthenic Syndrome, Congenital, 10
Waddling gait, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Short neck, Flexion contracture, Scoliosis, Increased variability i... OMIM:619026
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Inability to walk, Unsteady gait, Upper limb amyotrophy, Distal lower limb muscle... ORPHA:99950
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Mehmo Syndrome
Small for gestational age, Inability to walk, Obesity, Gait ataxia, Difficulty walking OMIM:300148
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hyperlordosis, Fatty replacement of skeletal muscle, Abnormality of the vertebral ... ORPHA:52430
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Trisomy 5P
Obesity, Scoliosis ORPHA:1742
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu... ORPHA:254875
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Gait imbalance, Scoliosis, Loss of ambulation, Weakness of facial muscul... ORPHA:329336
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Obesity OMIM:619255
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Skeletal muscle atrophy, Sacrococcygeal pilonidal abnormality, Gait disturb... ORPHA:2840
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Kyphoscoliosis, Gait ataxia OMIM:180800
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... OMIM:609560
Oxoglutarate Dehydrogenase Deficiency
Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy OMIM:203740
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:270685
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb muscle weakness, Spastic gait, Upper limb amyotrophy, Upper limb muscle weakness, Scol... OMIM:270800
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Proximal amyotrophy OMIM:608030
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Hyperinsulinemia, Anosmia, Increased serum leptin OMIM:617885
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Summitt Syndrome
Obesity OMIM:272350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118220
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture, Ataxia, Gait disturbance, Failure to thrive ORPHA:309162
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Gait disturbance ORPHA:100988
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Scoliosis, Loss of ambulation, Failure to thrive, Ske... OMIM:619518
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Generalized amyotr... ORPHA:1177
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar s... ORPHA:3041
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Rafiq Syndrome
Ataxia, Short neck, Flexion contracture, Obesity, Truncal obesity OMIM:614202
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor weakness OMIM:604563
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Intrinsic hand muscle atrophy, Gait ataxia, Distal amyotrophy, Wrist drop, Difficulty wal... OMIM:616688
Bardet-Biedl Syndrome 17
Hyposmia, Hypogonadism, Anosmia, Micropenis OMIM:615994
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Gait disturbance, Scoliosis OMIM:618578
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis ORPHA:101082
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Lethargy, Failure to thrive OMIM:618228
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Broad-based gait, Ataxia, Ragged-red muscle fibers, Unsteady gait, Dysme... OMIM:616479
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion cont... OMIM:301830
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Gait disturbance, Camptodactyly of finger ORPHA:2928
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance OMIM:615643
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Generalized amyotrophy, Scoliosis, Limb muscle weakness OMIM:614707
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Johnson Neuroectodermal Syndrome
Hypogonadism, Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Kyphosis, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118200
Huntington Disease
Abnormal libido, Abnormality of the sense of smell ORPHA:399
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... OMIM:620278
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Ataxia, Kyphosis, Flexion contracture, Umbilical hernia ORPHA:87876
Omenn Syndrome
Hypoproteinemia OMIM:603554
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Difficulty wal... OMIM:617695
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Kyphosis, Scoliosis ORPHA:2047
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Temple Syndrome
Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity, Scoliosis OMIM:616222
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Inability to walk, Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:617481
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Idiopathic Intracranial Hypertension
Back pain, Lethargy, Obesity ORPHA:238624
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, ... ORPHA:95496
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Macroglossia OMIM:614450
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Achilles tendon co... OMIM:617258
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Kyphoscoliosis, Obesity ORPHA:3077
Gray Platelet Syndrome
Epistaxis, Abnormality of the menstrual cycle ORPHA:721
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Shufflin... ORPHA:209335
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy OMIM:608627
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology, Abnormality of the sense of smell ORPHA:2189
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili... ORPHA:167
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Dysmetria, Increased muscle glycogen content, Pro... ORPHA:502423
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Young-Onset Parkinson Disease
Hyposmia, Female sexual dysfunction, Male sexual dysfunction, Impaired social interactions ORPHA:2828
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Kyphosis, Gait ataxia, Macroglossia, Abdominal obesity OMIM:300354
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Spastic gait, Difficulty walking, Limb hypertonia ORPHA:401815
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71526
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Decreased body weight ORPHA:477814
Leishmaniasis
Hypoalbuminemia ORPHA:507
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Inability to walk, Impaired tandem gait, Upp... ORPHA:254930
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Kleine-Levin Syndrome
Decreased libido, Parosmia ORPHA:33543
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Tip-toe gait OMIM:614436
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:607736
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Abnormal c... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Abnormality of skeletal... ORPHA:2348
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Generalized amyotrophy OMIM:618910
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Scoliosis ORPHA:96
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... ORPHA:169186
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Dista... ORPHA:300605
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Obesity, Scoliosis OMIM:619737
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis OMIM:609541
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Generalized limb muscle atrophy, Obesity, Distal amyotroph... ORPHA:2822
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia ORPHA:1667
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Kyphoscoliosis, Distal amyotrophy, Steppage gait, Scoliosis, Distal lower limb ... OMIM:145900
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Small for gestational age, Failure to thrive in infancy, Kyphosc... ORPHA:59
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis OMIM:619718
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Kennedy Disease
Skeletal muscle atrophy, Gait disturbance ORPHA:481
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Anosmia, Single naris, Absent n... ORPHA:2250
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Ataxia ORPHA:2254
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Prominent protruding coccyx, Obesity, Abnormal sacral segmentation ORPHA:480907
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Obesity ORPHA:411515
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Scoliosis, Hernia,... ORPHA:94065
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Pure Mitochondrial Myopathy
Waddling gait, Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis... ORPHA:254854
Clark-Baraitser syndrome
Kyphosis, Scoliosis, Obesity, Tall stature OMIM:300602
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Kyphoscoliosis OMIM:607831
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Multiple joint contractures, Distal amyotrophy, Scoliosis, Difficul... ORPHA:320406
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Ataxia, Centrally nucleated skeletal... OMIM:607459
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia OMIM:312750
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Limb muscle weakness ORPHA:97229
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Anosmia, A... ORPHA:3157
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Melorheostosis
Atypical scarring of skin, Skeletal muscle atrophy, Failure to thrive ORPHA:2485
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Limb ataxia, Gait ataxia OMIM:616719
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Delayed ... ORPHA:2326
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
8P11.2 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Anosm... ORPHA:251066
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Short neck, Truncal obesity, Scoliosis, Umbilical hernia ORPHA:284180
Laurence-Moon Syndrome
Ataxia, Obesity OMIM:245800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Ataxia, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia,... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy OMIM:614932
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies ORPHA:2234
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Skeletal muscle atrophy, Foot joint contracture ORPHA:457205
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness, Ataxia, Gait disturbance OMIM:612020
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Anosmia, Primary ame... OMIM:603457
Rett Syndrome
Skeletal muscle atrophy, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, S... ORPHA:778
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Inguinal hernia, S... OMIM:255800
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Unsteady gait OMIM:300614
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Abnorma... ORPHA:79083
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Spastic gait, Hand muscle weakness ORPHA:320355
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis OMIM:612079
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Weight loss, Distal amyotrophy, Skelet... ORPHA:3208
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Laurence-Moon Syndrome
Ataxia, Obesity ORPHA:2377
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spinal muscular atrophy, Distal amyotrophy, Scoliosis, Foot dorsiflexor weakness ORPHA:496756
Wagr Syndrome
Obesity, Scoliosis ORPHA:893
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Short neck ORPHA:2233
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Increased intramyocellu... OMIM:614487
Angelman Syndrome
Broad-based gait, Ataxia, Obesity, Macroglossia, Progressive gait ataxia, Scoliosis OMIM:105830
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Dysmetria, Gait ataxia, Distal amyotrophy OMIM:611302
Nephronophthisis 15
Obesity OMIM:614845
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia OMIM:274240
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... OMIM:255125
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, Depressed nasal bridge, Anteverted nar... ORPHA:97360
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Flexio... OMIM:613327
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615704
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Broad nasal tip, Cryptorchidism, Hypoplast... ORPHA:495875
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Generalized amyotrophy OMIM:610006
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability in muscle fibe... OMIM:617302
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Progressive cerebellar ataxia ORPHA:98757
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Dysmetria, Abnormality of masticatory muscle, Bradykinesia, Progressive ... ORPHA:98755
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Broad-based gait, Thoracic scoliosis, Contractures of the large joints OMIM:616716
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Short neck ORPHA:2183
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... OMIM:205100
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnor... ORPHA:174
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... ORPHA:14
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Dysmetria, Distal am... OMIM:270550
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity ORPHA:171829
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Hypoalbuminemia, Gait ataxia OMIM:254900
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb muscle weakness, Upper limb amyotrophy, Limb ataxia, Upper limb muscle weakness, Scoli... ORPHA:100986
48,Xxyy Syndrome
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Obesity, Scoliosis, Tall stature ORPHA:10
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Cachexia ORPHA:1933
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Inability to walk by childhood/adolescence, Kyphoscoliosis OMIM:214400
Morm Syndrome
Truncal obesity ORPHA:75858
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Broad-based gait, Ataxia, Joint contracture of the hand, Scoliosis, Camp... OMIM:609033
Temple Syndrome
Small for gestational age, Obesity, Scoliosis ORPHA:254516
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbanc... ORPHA:812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Scoliosis ORPHA:254531
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Ataxia-Telangiectasia
Skeletal muscle atrophy, Failure to thrive, Ataxia, Gait disturbance ORPHA:100
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Obesity, Short neck ORPHA:110
Waardenburg Syndrome, Type 4C
Hypogonadism, Cryptorchidism, Anosmia, Lacrimal gland hypoplasia OMIM:613266
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Scoliosis, Failure to thrive, Abnormal... ORPHA:261197
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... ORPHA:284160
Microtriplication 11Q24.1
Obesity, Scoliosis, Short neck ORPHA:289522
Aural Atresia, Congenital
Hyposmia OMIM:607842
Becker Muscular Dystrophy
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking ORPHA:98895
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies,... ORPHA:2180
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Musk, Inability To Smell
Anosmia OMIM:254150
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, Facial diplegia, Facial paralysis, Failure to thrive OMIM:613559
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Mehmo Syndrome
Obesity ORPHA:85282
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Scoliosis, Ataxia, Obesity, Tall stature OMIM:618430
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Truncal obesity OMIM:219080
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis, Lethargy ORPHA:42
Leukodystrophy, Hypomyelinating, 5
Loss of ambulation, Lower limb amyotrophy, Lower limb muscle weakness, Scoliosis OMIM:610532
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Inguinal hernia, Failure to thrive OMIM:618603
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis ORPHA:970
Biemond Syndrome Type 2
Obesity ORPHA:141333
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615419
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Obesity, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral in... OMIM:618395
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Weight loss, Distal amyotrophy, Difficulty walking, In... OMIM:164310
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, Dystonic gait, Difficul... ORPHA:280210
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Immunodeficiency 61
Obesity OMIM:300310
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Inability to walk, Kyphosis, Unsteady gait, Obesi... OMIM:618443
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Inability to walk, Flexion contracture, Facial diplegia, Scoliosis, Limb... OMIM:218000
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Short neck OMIM:612463
Microhydranencephaly
Skeletal muscle atrophy, Athetosis, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Chung-Jansen Syndrome
Obesity OMIM:617991
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia ORPHA:158048
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Obesity, Scoliosis, Decreased body weight ORPHA:589821
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesi... ORPHA:85293
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Short neck OMIM:618821
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Myopathy, Muscular dystrophy, Scoliosis, Aplasia/Hypoplasia invo... ORPHA:559
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypoalbuminemia, Dysmetria, Hypocholesterolemia OMIM:212065
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter, Lethargy OMIM:604377
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Aplasia of the ovary, Depressed nasal ridge, Micropenis, Hypoplasia ... OMIM:151100
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Scoliosis, Limb hypertonia OMIM:619527
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis, Lower limb mus... ORPHA:88644
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Lipodystrophy, Elbow flexion contracture, Decre... OMIM:616200
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Dysmetria, Gait ataxia ORPHA:98771
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Ataxia-Telangiectasia-Like Disorder 1
Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Distal amyotrophy, Dysdiadochokin... OMIM:604391
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Dispropor... ORPHA:3068
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Distal amyotrophy, Steppage gait, Scoliosis, Limb muscle weakness OMIM:601152
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Retinitis Pigmentosa
Atypical scarring of skin, Obesity ORPHA:791
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity, Scoliosis ORPHA:96184
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Depressed nasal bridge, Abnormality of the sense... ORPHA:140
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:570
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell ORPHA:958
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy ORPHA:2013
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive, Ataxia ORPHA:95428
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Scoliosis OMIM:610543
Clark-Baraitser Syndrome
Obesity OMIM:617752
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Small for gestational age, I... OMIM:612073
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity OMIM:300957
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa... ORPHA:70
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Short neck OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Richards-Rundle Syndrome
Distal amyotrophy, Ataxia, Gait disturbance ORPHA:1399
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Overgrowth OMIM:603387
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, Limb hypertonia OMIM:617296
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Gait disturbance, Myopathy ORPHA:85329
Megalencephaly
Truncal obesity, Short neck ORPHA:2477
Rabson-Mendenhall Syndrome
Increased pineal volume, Wide nose, Enlarged ovaries, Anteverted nares, Prominent nasal bridge, P... ORPHA:769
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Gait imbalance, Sco... OMIM:211530
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:614153
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Difficulty walking, Truncal ataxia ORPHA:276198
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid drop... ORPHA:98907
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Lipodystrophy, Kyphoscoliosis, Flexion contracture, Atypical scarring of... ORPHA:75496
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Developmental And Epileptic Encephalopathy 51
Inability to walk, Skeletal muscle atrophy, Failure to thrive OMIM:617339
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Scoliosis, Abdominal obesity, Camptodactyly OMIM:301039
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Dysmetria OMIM:615578
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Obesity, Thoracic kyphosis, Overgrowth, Scoliosis OMIM:620250
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Ataxia, Inability to walk, Flexion contracture,... ORPHA:481152
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Skeletal muscle atrophy, Failure to thrive OMIM:616420
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
L1 Syndrome
Skeletal muscle atrophy, Gait disturbance ORPHA:275543
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Carpenter Syndrome
Umbilical hernia, Obesity, Kyphoscoliosis ORPHA:65759
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Obesity, Gait imbalance, Scoliosis ORPHA:98794
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Niemann-Pick Disease, Type A
Inability to walk, Skeletal muscle atrophy, Failure to thrive, Athetosis OMIM:257200
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walki... ORPHA:513436
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Generalized amyotrophy, Scoliosis... ORPHA:994
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... OMIM:613150
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Limb hypertonia OMIM:617710
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Down Syndrome
Short neck, Obesity, Macroglossia, Gait disturbance, Umbilical hernia ORPHA:870
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature ORPHA:85323
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Lethargy ORPHA:156
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Pierson Syndrome
Hypoproteinemia OMIM:609049
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Gait imbalance, Obesity ORPHA:411511
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Ataxia, Flexion contracture, Truncal obesity, Lo... OMIM:301072
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Abnormal form of the vertebral bodies, Gait disturbance, S... ORPHA:819
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight, Umbilic... OMIM:614856
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Progressive cerebellar ataxia, Distal amyotrophy, Scoliosis, Truncal ataxia ORPHA:352641
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Skeletal muscle atrophy, Failure to thrive OMIM:245400
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk in first decade, Tr... OMIM:300243
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Ataxia, Dysmetria OMIM:615217
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Scoliosis, Slender b... OMIM:131300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... OMIM:300232
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Increased variability in ... OMIM:617022
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Scoliosis ORPHA:813
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Obesity OMIM:620191
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Obesity OMIM:614613
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Radio-Tartaglia Syndrome
Ataxia, Gait imbalance, Scoliosis, Obesity OMIM:619312
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity, Short neck ORPHA:464288
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Joubert Syndrome 37
Lumbar hyperlordosis, Obesity OMIM:619185
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Cornelia De Lange Syndrome 5
Truncal obesity, Short neck OMIM:300882
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Small for gestational age, Type 2 muscle fiber predominance, Cho... OMIM:615471
Man1B1-Cdg
Truncal obesity, Broad-based gait, Short neck ORPHA:397941
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Gait ataxia ORPHA:70595
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myo... ORPHA:98915
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anteverted nares, Choanal atresia, Hypo... ORPHA:2162
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Gait disturb... ORPHA:682
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Retinitis Pigmentosa 51
Obesity OMIM:613464
White-Sutton Syndrome
Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Obesity, Failure to... OMIM:616364
Carpenter Syndrome 1
Omphalocele, Sacral dimple, Short neck, Obesity, Joint contracture of the hand, Scoliosis, Campto... OMIM:201000
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Tip-toe gait, Spastic gait, Kyphoscoliosis ORPHA:447760
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita OMIM:232500
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Oxoglutaric Aciduria
Skeletal muscle atrophy, Ataxia ORPHA:31
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Neuraminidase Deficiency
Skeletal muscle atrophy, Inguinal hernia, Dysmetria OMIM:256550
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Refsum Disease, Classic
Anosmia OMIM:266500
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Gait disturbance, Foot dorsiflexor weakness OMIM:616586
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Facial hypotonia, Childhood-... OMIM:216550
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture OMIM:614678
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Wilson Disease
Back pain, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs, Difficult... ORPHA:905
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Short neck ORPHA:1001
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Myopathy, Gait disturbance, Weakness of facial... ORPHA:98673
Renpenning Syndrome
Skeletal muscle atrophy, Cachexia ORPHA:3242
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Lissencephaly 8
Skeletal muscle atrophy OMIM:617255
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
8P23.1 Microdeletion Syndrome
Short neck, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... ORPHA:17
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Overweight, Inability to walk, Obesity, Scoliosis, Decreased body weight, Enamel hypoplas... OMIM:619229
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Short neck, Obesity, Scoliosis, Tall stature ORPHA:96263
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Proportionate tall stature, Kyphoscoliosis, Obesity ORPHA:404443
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy... OMIM:164400
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Loss of ambulation, Skeletal muscle atrophy, Ataxia, Gait ataxia OMIM:620089
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis OMIM:200150
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Refsum Disease
Anosmia ORPHA:773
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Obesity, Macroglossia, Failure to thrive ORPHA:96147
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta ORPHA:230839
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Failure to thrive, Lethargy OMIM:210210
Joubert Syndrome 8
Ataxia, Obesity OMIM:612291
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Abnormal dental enamel morphology, Caudal interpedicular narrowing... ORPHA:439822
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Spastic gait ORPHA:2821
Momo Syndrome
Short neck, Large for gestational age, Obesity, Overgrowth, Tall stature ORPHA:2563
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ataxia, Knee flexion contracture, Scoliosis ORPHA:435638
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity OMIM:619680
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Failure to thrive OMIM:619272
Angelman Syndrome
Broad-based gait, Ataxia, Inability to walk, Obesity, Scoliosis ORPHA:72
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Choanal s... OMIM:201750
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdo... ORPHA:2990
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Kyphosis, Scoliosis, Cachexia ORPHA:1969
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive gait ataxia, Progressive cereb... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive gait ataxia, Progressive cereb... ORPHA:276241
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:618653
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Kyphosis, Unsteady gait, Myopathy, Failure to thrive OMIM:615512
Kleefstra Syndrome 1
Macroglossia, Obesity OMIM:610253
Kleefstra Syndrome
Macroglossia, Hernia, Obesity, Scoliosis ORPHA:261494
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, O... ORPHA:468678
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Short neck OMIM:612462
Momo Syndrome
Overgrowth, Obesity, Short neck OMIM:157980
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Abnormal vertebral morphology ORPHA:3224
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Failure to thrive, Scoliosis ORPHA:94063
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Bardet-Biedl Syndrome 1
Ataxia, Obesity, Truncal obesity, Abdominal obesity, Gait imbalance, Left ventricular hypertrophy OMIM:209900
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Charge Syndrome
Bifid scrotum, Depressed nasal bridge, Choanal atresia, Hypogonadotropic hypogonadism, Cryptorchi... ORPHA:138
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Kyphosis, Obesity, Abdominal obesity, Scoliosis OMIM:176270
Senior-Loken Syndrome 9
Obesity OMIM:616629
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy OMIM:162400
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Short neck OMIM:103580
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability... OMIM:614557
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Proximal amyotrophy ORPHA:189427
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Short neck ORPHA:251038
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Ataxia, Inability to walk, Scoliosis, Arthrogryposis multiplex congenita OMIM:617193
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... OMIM:254940
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Adenylosuccinase Deficiency
Inability to walk, Skeletal muscle atrophy, Gait ataxia OMIM:103050
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... ORPHA:1328
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive OMIM:614300
Xq21 Microdeletion Syndrome
Ataxia, Obesity, Gait ataxia, Upper limb muscle weakness, Dysdiadochokinesis, Abnormality of the ... ORPHA:1435
Laron Syndrome
Truncal obesity ORPHA:633
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Trisomy 17P
Skeletal muscle atrophy, Short neck, Flexion contracture, Macroglossia, Scoliosis ORPHA:261290
Glycogen Storage Disease Xii
Myopathy, Short neck, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
7Q11.23 Microduplication Syndrome
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Unsteady gait, Hemiv... ORPHA:96121
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive gait ataxia, Progressive cereb... ORPHA:276244
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Anosmia OMIM:609136
Myhre Syndrome
Vertebral fusion, Ataxia, Small for gestational age, Short neck, Generalized muscle hypertrophy, ... OMIM:139210
Donohue Syndrome
Severe failure to thrive, Skeletal muscle atrophy, Adipose tissue loss OMIM:246200
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Inability to walk, Rhabdomyolysis, Incr... ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Kabuki Syndrome
Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Obesity, Abnormal form of the... ORPHA:2322
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... ORPHA:79102
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Inguinal hernia, Ataxia, Dysmetria, Truncal obesity, Dysdiadochokinesis, Gait d... OMIM:616541
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Obesity ORPHA:163681
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Hy... ORPHA:800
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Enamel hypoplasia, Failure to thrive, Short neck OMIM:615802
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive ORPHA:90045
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Truncal obesity, Lipodystrophy, Decreased body weight OMIM:270450
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Arthrogryposis mul... ORPHA:320375
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Broad-based gait, Failure to thrive, Obesity ORPHA:369950
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Kyphosis OMIM:610475
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Camptodactyly of finge... ORPHA:2215
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Abnormal dental enamel morphology, Kyphoscoliosis, Atypical scarring of ... OMIM:601701
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Cohen Syndrome
Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis ORPHA:193
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Scoliosis ORPHA:1358
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Microcephalic Primordial Dwarfism, Dauber Type
Lumbar scoliosis, Obesity ORPHA:319675
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Obesity ORPHA:563
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Lipodystrophy, Failure to th... ORPHA:39812
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoli... ORPHA:192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Calf muscle hypertrophy, Scoliosis... OMIM:253800
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Unsteady gait, Ataxia, Obesity OMIM:614947
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Adiposis Dolorosa
Obesity ORPHA:36397
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Pelv... ORPHA:79240
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ob... ORPHA:3138
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Obesity, Scoliosis OMIM:250420
Werner Syndrome
Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Slender build, Chondrocalcinosis ORPHA:902
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Scoliosis, Arthrogryposis multiplex congenita, Ataxia ORPHA:496641
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cachexia, Myopathy, Scoliosis, Lipoma, Tall stature ORPHA:109
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Skeletal muscle atrophy, Ataxia OMIM:146500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy, Ataxia OMIM:268800
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial... ORPHA:536545
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Pontocerebellar Hypoplasia, Type 7
Choreoathetosis, Skeletal muscle atrophy, Ataxia OMIM:614969
Desbuquois Dysplasia 2
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Dysbetalipoproteinemia
Tendon xanthomatosis, Obesity ORPHA:412
Alstrom Syndrome
Truncal obesity, Kyphosis, Scoliosis OMIM:203800
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Inability to walk, Abnormal skeletal musc... ORPHA:2912
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:255995
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Failure to thrive OMIM:615934
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Narcolepsy 7
Obesity OMIM:614250
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Mody
Overweight, Obesity, Large for gestational age ORPHA:552
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Obesity, Scoliosis OMIM:619269
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Pseudohypoparathyroidism Type 1A
Calcinosis, Short neck, Obesity, Choreoathetosis, Enamel hypoplasia ORPHA:79443
6Q Terminal Deletion Syndrome
Short neck, Obesity, Dysmetria, Gait ataxia, Scoliosis, Failure to thrive ORPHA:75857
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Tay-Sachs Disease
Skeletal muscle atrophy, Lower limb muscle weakness, Quadriceps muscle atrophy, Inability to walk... ORPHA:845
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Scoliosis ORPHA:251061
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Choanal atresia, Decreased response to growth ... OMIM:214800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Increased body weight, Increased sarcoplasmic glycogen ORPHA:264580
Pseudohypoparathyroidism Type 1C
Calcinosis, Enamel hypoplasia, Obesity, Short neck ORPHA:79444
Hereditary Late-Onset Parkinson Disease
Hyposmia ORPHA:411602
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity, Scoliosis ORPHA:98793
Autosomal Recessive Spastic Paraplegia Type 20
Upper limb muscle weakness, Skeletal muscle atrophy, Distal amyotrophy, Spastic gait ORPHA:101000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Broad-based gait, Ataxia, Overweight, Kyphosis, Obesity, Abnormal curvatu... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Obesity, Hyperlordosis OMIM:616078
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age OMIM:618252
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Distal Deletion 12Q
Failure to thrive in infancy, Kyphoscoliosis, Short neck, Elbow flexion contracture, Obesity, Con... ORPHA:96149
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Cryptorchidism, Anosmia, Bicornuate uterus, Abnormal salivary gland morphology, ... ORPHA:2363
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Increased intramyocellular lipid dropl... OMIM:252010
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Short neck, Inability to walk, Macroglossia, Scoliosis ORPHA:488632
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy ORPHA:803
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Abnormality of the adrenal glands ORPHA:68
Cushing Disease
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Truncal obesity, Abdominal obe... ORPHA:96253
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Choreoathetosis, Myopathy, Athetosi... ORPHA:506
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Failure to thrive, Short neck OMIM:608779
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Truncal obesity OMIM:222700
Chops Syndrome
Cervical C2/C3 vertebral fusion, Obesity OMIM:616368
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Prader-Willi Syndrome Due To Translocation
Obesity, Scoliosis, Short neck ORPHA:177907
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Monosomy 13Q34
Obesity ORPHA:96168
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Scoliosis ORPHA:2637
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Hyperlordosis, Obesity, Truncal obesity, Scoliosis, Failure to thrive OMIM:615873
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Scoliosis ORPHA:369837
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Myopathy, Progressive loss of facial adi... ORPHA:90289
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Broad-based gait, Ataxia, Corneal scarring, Loss of ambulation, Failure ... OMIM:256810
Wagro Syndrome
Obesity OMIM:612469
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Obesity, Spinal canal stenosis, Myopathy, Gait disturbance, Sc... ORPHA:1606
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Scoliosis, Aplasia/Hypoplasia i... ORPHA:2671
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy ORPHA:899
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Farber Disease
Skeletal muscle atrophy, Failure to thrive, Flexion contracture ORPHA:333
Leptospirosis
Hyperproteinemia ORPHA:509
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Obesity, Hyperlordosis OMIM:301066
Webb-Dattani Syndrome
Obesity OMIM:615926
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:881
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Macroglossia, Abnormal vertebral morphology, Obesity ORPHA:444077
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Kyphosis, Spinal canal sten... ORPHA:828
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Disproportionate tall stature, Scol... ORPHA:558
Xylt1-Cdg
Truncal obesity ORPHA:370930
Retinitis Pigmentosa 74
Obesity OMIM:616562
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Scoliosis ORPHA:739
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Abnormal form of the vertebral bodies, Camptodactyly, Abnorm... ORPHA:233
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk... ORPHA:191
Recon Progeroid Syndrome
Skeletal muscle atrophy OMIM:620370
Williams Syndrome
Sacral dimple, Inguinal hernia, Ataxia, Failure to thrive in infancy, Abnormal dental enamel morp... ORPHA:904
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Choreoathetosis, Distal lower l... ORPHA:79139
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Wiedemann-Rautenstrauch Syndrome
Depressed nasal bridge, Anteverted nares, Narrow nasal ridge, Hypospadias, Cryptorchidism, Long p... OMIM:264090
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Scoliosis, Short neck ORPHA:529962
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Kyphosis, Unsteady gait, Flexion contracture, Scoliosis, Difficulty walk... ORPHA:90324
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Anteverted nares, Wide nasal ridge, Hypogonadotropic hypogonadism, Decreased res... ORPHA:3455
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration, Prominent ... ORPHA:2976
Sheehan Syndrome
Obesity ORPHA:91355
22Q11.2 Deletion Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Short neck, Obesity, Scoliosis, Umbilical her... ORPHA:567
Aromatase Deficiency
Eunuchoid habitus, Obesity, Tall stature ORPHA:91
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... OMIM:259050
Rubinstein-Taybi Syndrome 1
Small for gestational age, Unsteady gait, Flexion contracture, Spina bifida occulta, Truncal obes... OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia OMIM:210720
Carpenter Syndrome 2
Short neck, Obesity, Knee flexion contracture, Umbilical hernia, Camptodactyly, Diaphragmatic eve... OMIM:614976
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck ORPHA:647
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Failure to thrive, Lipodystrophy, Camptodactyly of finger, Adipose tissu... OMIM:256040
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Immunodeficiency 31C
Skeletal muscle atrophy, Weight loss OMIM:614162
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Small for gestational age ORPHA:125
Craniopharyngioma
Obesity ORPHA:54595
Bardet-Biedl Syndrome 20
Obesity OMIM:619471
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Small for gestational age, Flexion contracture, Scoliosis, Camptodactyly OMIM:309590
White-Kernohan Syndrome
Obesity OMIM:619426
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... OMIM:613406
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Short neck, Obesity, Macroglossia, Lower limb hypertonia OMIM:309580
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Failure to thrive, Obesity, Short neck OMIM:617157
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Williams-Beuren Syndrome
Inguinal hernia, Failure to thrive in infancy, Kyphoscoliosis, Flexion contracture, Obesity, Gait... OMIM:194050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obesity, Abnormal curvature of the vertebral column, Keloids, Failure to thrive, Abnormality of t... ORPHA:353281
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Facial palsy ORPHA:297
Monosomy 22Q13.3
Umbilical hernia, Sacral dimple, Obesity ORPHA:48652
Atypical Werner Syndrome
Skeletal muscle atrophy, Lipoatrophy, Generalized lipodystrophy, Calf muscle hypertrophy, Decreas... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Scoliosis ORPHA:293987
Digeorge Syndrome
Pilonidal sinus, Inguinal hernia, Femoral hernia, Obesity, Scoliosis, Umbilical hernia, Intervert... OMIM:188400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short neck, Truncal obesity, Scoliosis, Camptodactyly, Failure to thrive OMIM:612474
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Camptodactyly of finger, Scoliosis, Camptodactyly OMIM:607872
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity OMIM:614231
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Failure to thrive, Decreased body w... ORPHA:508
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture OMIM:619321
Ulnar-Mammary Syndrome
Inguinal hernia, Elbow flexion contracture, Obesity OMIM:181450
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia ORPHA:79318
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Obesity, Corneal scarring, Abnormal curvature of the vertebral column, Keloids, Failure to thrive... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Obesity, Corneal scarring, Abnormal curvature of the vertebral column, Keloids, Failure to thrive... ORPHA:353277
Pallister-Killian Syndrome
Omphalocele, Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Kyphosc... OMIM:601803
Norrie Disease
Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Self-injurious behavior, Attention ... ORPHA:649
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Failure to thrive ORPHA:3260
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Short neck ORPHA:199
Leprosy
Skeletal muscle atrophy, Steppage gait, Foot dorsiflexor weakness ORPHA:548
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weight loss OMIM:219800
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Carney Complex
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature ORPHA:1359
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy ORPHA:284339

Histopathology

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

There is no histopathology data for Magel2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Magel2.

No publications found that use IMPC mice or data for Magel2.

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MGI Allele Allele Type Produced
Magel2em2(IMPC)H Intra-exon deletion Mice

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