Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sterile alpha motif domain containing 4
Synonyms:
sunk,  4933436G17Rik,  1700111L17Rik,  Smaug,  1700024G08Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Samd4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Samd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Lumbar hyperlordosis, Abnormal circulating lipid concentration... OMIM:615980
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... OMIM:608423
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy... OMIM:300695
Mitochondrial Myopathy With Diabetes
Ataxia, Type II diabetes mellitus, EMG: myopathic abnormalities, Elevated circulating creatine ki... OMIM:500002
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Marinesco-Sjogren Syndrome
Failure to thrive, Ataxia, Kyphosis, Flexion contracture, Limb ataxia, Hypergonadotropic hypogona... OMIM:248800
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Spinal rigidity, EMG: myopathic abnormalities, Minicore myopathy, In... ORPHA:486815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... ORPHA:603
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Loss of ambulation, Increased endomysial connective tissue, Decreased body wei... OMIM:602771
Klhl9-Related Early-Onset Distal Myopathy
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Loss of ambulation, Abnormality o... ORPHA:399081
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricul... ORPHA:86812
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Oligomenorrhea, Lipodystrophy, Hypertriglyceridemia, In... OMIM:613877
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulati... OMIM:616471
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Spinal rigidity, Flexion contractur... OMIM:613327
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistan... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Central Core Disease Of Muscle
Nemaline bodies, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... OMIM:117000
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Hypertrichosis, Low anterior hairline, Hepatomegaly, Hyperinsuline... ORPHA:528
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Merrf
Ragged-red muscle fibers, Ataxia, Multiple lipomas, Myopathy ORPHA:551
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Loss of subc... ORPHA:79083
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Ach... OMIM:609200
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Bradykinesia, Spinal rigidity, Flexion contractu... ORPHA:171439
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Elevated creatine kinase after exercise, Limb-girdle ... ORPHA:352470
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Congenital muscul... OMIM:609456
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis, Gait disturbance, M... OMIM:618129
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Spinal rigidity, Proximal muscle weakness in... ORPHA:598
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Myopat... ORPHA:26792
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Hepatomegaly,... ORPHA:363400
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Gne Myopathy
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... ORPHA:602
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elevated circulating creatine ... OMIM:158810
Idiopathic Juvenile Osteoporosis
Gait disturbance, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
King-Denborough Syndrome
Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial... OMIM:619542
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Kyphosis, Scoliosis OMIM:611225
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Loss of ambulation, Female infertility, Skeletal muscle autophagosome accumula... OMIM:619518
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Scol... OMIM:255200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Myopathy OMIM:618323
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... ORPHA:2790
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Cirr... OMIM:604367
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cellulitis, Lipoat... ORPHA:2348
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... ORPHA:435651
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... OMIM:255310
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Waddling gait, Muscle ... OMIM:609524
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Foot dor... OMIM:601846
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle ... OMIM:167320
Myopathy, Myosin Storage, Autosomal Recessive
Loss of ambulation, Thoracic scoliosis, EMG: myopathic abnormalities, Calf muscle hypertrophy, Li... OMIM:255160
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Weakness of facial musculature, P... ORPHA:2596
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... OMIM:610687
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Osteopenia, Short neck, Scoliosis, Intervertebral... OMIM:271530
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... ORPHA:97244
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy, Gait disturbance, Elevated hepatic transaminase, Mi... OMIM:618400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Gnathodiaphyseal Dysplasia
Osteopenia, Thickened cortex of long bones, Scoliosis ORPHA:53697
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Flexion contracture, Scoliosis, Elevated hepatic transaminase, Lipodystro... OMIM:615381
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypoplasia of the musculature, Splenomegaly, Cirrhosis... ORPHA:231226
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia OMIM:610743
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Scoliosis, Lethargy, Facial palsy, Myopathy OMIM:201470
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Waddling gait OMIM:618392
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Hyperlordosis, Abnormal c... ORPHA:369840
Myopathy, Distal, 4
Abnormality of the calf musculature, Mildly elevated creatine kinase, Distal upper limb amyotroph... OMIM:614065
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Type II diabetes mellitus, Myopathy ORPHA:2579
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Skeletal musc... ORPHA:90970
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Hypoplasia of the musculature, Eunuchoid habitus, Loss of truncal subcutaneous adipose... ORPHA:2463
Myopathy, Myofibrillar, 8
Nemaline bodies, Spinal rigidity, Scapular winging, Elevated circulating creatine kinase concentr... OMIM:617258
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... OMIM:300696
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Generalized weakness of limb muscles, Limb-girdle musc... ORPHA:353327
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy OMIM:212160
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Kyphosis, Ataxia, Scoliosis ORPHA:101075
Myopathy, Spheroid Body
Broad-based gait, Elevated circulating creatine kinase concentration, Waddling gait, Skeletal mus... OMIM:182920
Marinesco-Sjögren Syndrome
Ataxia, Muscular dystrophy, Scoliosis, Abnormal circulating creatine kinase concentration, Aplasi... ORPHA:559
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypoplasia of the musculature, Hepatomegaly, Splenomeg... ORPHA:231214
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Increased variabilit... OMIM:618992
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis, Gait disturbance, Skeletal muscle ... ORPHA:157973
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating cr... ORPHA:42
Carey-Fineman-Ziter Syndrome 1
Failure to thrive, Hypoplasia of the musculature, Spinal rigidity, Flexion contracture, Pectorali... OMIM:254940
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Loss of subcu... OMIM:151660
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Facial palsy, Lumbar hyperlordosis, Myopathy OMIM:253320
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Hypoplasia of the musculature, Skeletal muscle atrophy, Hypogonadism ORPHA:85323
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Flexion contracture of finger, Hypoplasia of the musculature,... ORPHA:2020
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:612937
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Skeletal muscle atrophy, Arthro... OMIM:253310
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Kyphosis OMIM:277950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Muscular dystrophy, Hypoglycemia, Hypertriglyce... OMIM:307030
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy OMIM:609500
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Increased serum pyruvate, Myopathy OMIM:545000
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in low... OMIM:619566
Myopathy, Proximal, With Ophthalmoplegia
Scoliosis, Muscle fiber inclusion bodies, Waddling gait, Scapular winging, Congenital contracture... OMIM:605637
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Elevated circulating creatine kinase concentration, Hernia, Atrophic scars, Skele... ORPHA:300179
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... ORPHA:280365
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Hypertriglyc... ORPHA:79085
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... ORPHA:2114
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Elevated circulating creatine kinase ... OMIM:600175
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Hyperchol... ORPHA:181393
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Kyphosis, Ataxia, Scoliosis ORPHA:101078
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Increased variability in muscle fiber diameter, Difficulty walking, Mildly elevated creat... ORPHA:401768
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Tip-toe gait, EMG: myop... ORPHA:370980
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... ORPHA:597
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Elevated... ORPHA:1878
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Scoliosis, S... OMIM:609284
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Lipoatrophy, Myopathy ORPHA:154
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Scoliosis, Elevated circulating creatine kinase concentrati... OMIM:255100
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Scoliosis, Increased connective tissue, Hyperlordosis, ... OMIM:617760
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Elevated circulating creati... ORPHA:270
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... OMIM:609813
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Welander Distal Myopathy
Mildly elevated creatine kinase, Rimmed vacuoles, Steppage gait, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Hip contracture, Kyphosis, Tip-toe gait, Proximal muscle weakness in lower limb... OMIM:615290
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Hypohidrosis, Aplasia/Hypoplasia involving the skele... ORPHA:2926
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... ORPHA:266
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Hyperlordosis, Ragged-red muscle fib... OMIM:616228
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis ORPHA:1802
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Failure to thrive, Kyphosis, Flexion contracture OMIM:618237
Nemaline Myopathy 3
Slender build, Nemaline bodies, Spinal rigidity, EMG: myopathic abnormalities, Scoliosis, Type 1 ... OMIM:161800
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Lower limb amyotrophy, Foot dorsi... ORPHA:90103
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Scoliosis, ... OMIM:616222
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Adrenocortical hypo... ORPHA:408
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Distal Nebulin Myopathy
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... ORPHA:399103
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... ORPHA:370
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Spinal rigidity, Muscular dystrophy, Scoliosis, Centrally nucleated skeletal muscle fibers OMIM:617066
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Scoliosis, Waddling ... OMIM:616756
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Myosit... OMIM:615422
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Neuroendocrine neoplasm, Hyperaldosteronism, Abnormal libido, Macronodular adrenal hype... ORPHA:189427
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Elevated circulating creatine ... OMIM:612954
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fa... ORPHA:189439
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Type 1 fibers... ORPHA:596
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Gait disturbance, Hypothyroidism, Umbilical hernia, Ja... ORPHA:2349
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Tip-toe gait, Toe extensor amyotrophy, Rim... OMIM:160500
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Elevated circulating creatine kinase c... ORPHA:98911
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Ragged-r... ORPHA:254864
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Elevated ... OMIM:616924
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Elevated circulating creatine kinase concentratio... OMIM:615368
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Inguinal hernia, Flexion contracture, Scoliosis, Spinal muscular atr... OMIM:301830
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Lumbar hyperlordosis, Macroglossia, Rig... ORPHA:353
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Kyphosis, Spinal rigidity, Flexion contracture, Increased varia... ORPHA:171436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... OMIM:616812
Metatropic Dysplasia
Kyphosis, Coarse metaphyseal trabecularization, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2635
Benign Samaritan Congenital Myopathy
Lethargy, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Broad-based gait, Kyp... OMIM:181405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... OMIM:606612
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Camptodactyly of finger, ... OMIM:614399
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Hirsutism, Hypoplasia of the musculature, Camptodactyly of finge... OMIM:305620
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy ORPHA:50817
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Increased bod... ORPHA:264580
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... ORPHA:71
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Hyperlordosis, Osteolysis, Abnormal cortical b... ORPHA:970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mas... OMIM:603034
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... OMIM:606069
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Elevated circula... OMIM:616209
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... OMIM:609285
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Ataxia, Kyphosis, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadot... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, A... ORPHA:453533
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, Scoliosis, Foot dorsiflexor weakness, Centrally nu... OMIM:619574
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Muscle fiber necrosis, Ataxia, Dysmetria, Weakness of facial musculature, Scapu... OMIM:607459
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Generalized limb muscle atrophy, Distichiasis, Delayed puberty, Myopathy ORPHA:2598
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Short neck, Scoliosis, ... OMIM:616033
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Weakness of facial musculature, Elevat... ORPHA:352447
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscl... OMIM:603511
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Alg9-Cdg
Torticollis, Hypertrichosis, Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Hypoplas... ORPHA:79328
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdo... ORPHA:48431
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... OMIM:617072
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Difficulty walking, Thickened cortex of bones ORPHA:564003
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ataxia, Bradykinesia, Scapular winging, Elevated circ... ORPHA:254886
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Short neck, Abnormality of the shoulder girdle musculature ORPHA:3181
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hirsutism, Hepatomega... OMIM:608594
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Decreased body weight, Dysmetria, Abetalipoproteinemia, Elevated circulating creatine kin... ORPHA:96180
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Elevated circulating creatine kinas... OMIM:310440
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... OMIM:609015
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Scolios... OMIM:618524
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... OMIM:269700
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Weakness of facial musculature, Scoliosis, Spinal muscular atrophy, Difficulty walking, Skeletal ... ORPHA:254875
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... OMIM:500009
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis, Myopathy ORPHA:91130
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital muscular dystr... OMIM:602541
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Weakness of facial musculature... ORPHA:1145
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Broad-based gait, Thoracic scoliosis, Decr... ORPHA:2959
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Leber Hereditary Optic Neuropathy
Ataxia, Myopathy ORPHA:104
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, El... ORPHA:52430
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... ORPHA:178148
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy, Diabetes mellitus OMIM:540000
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Kyphosis, Ataxia, Scoliosis ORPHA:99014
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, C... OMIM:618138
Wilson Disease
Failure to thrive, Hepatomegaly, Back pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Proxi... ORPHA:905
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Bradykinesia, Macrovesicular hepatic steatosis, Cholestasis, Rag... OMIM:614924
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis OMIM:303350
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Poliomyelitis
Hypoplasia of the musculature, Inability to walk, Abnormal skeletal muscle morphology, Lower limb... ORPHA:2912
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Waddling gait, Myopathy OMIM:241510
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Abnormality of the vertebral column, Generalized osteosclerosis, Calvarial osteosc... OMIM:607634
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Kyphosis, Spinal rigidity, ... OMIM:254090
Adducted Thumbs Syndrome
Myopathy, Hypertrichosis, Arthrogryposis multiplex congenita OMIM:201550
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Broad-based gait, Abnormal circulating apolipoprotein concentr... ORPHA:14
Sprengel Deformity
Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occult... OMIM:184400
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Calvarial hyperostosis, Thin bony cortex, Mandibular hyper... OMIM:176920
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatocellular adenoma, Increased body weight, Skeletal muscle atrophy, Dysmenorrhe... ORPHA:79240
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis, Calvarial hyperostosis OMIM:112350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperlordo... ORPHA:3085
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Gait disturbance, S... ORPHA:262
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... ORPHA:99901
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Scoliosis, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminas... OMIM:619013
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Failure to thrive, Hepatomegaly, Flex... ORPHA:367
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Elevated circulating... OMIM:607855
Alstrom Syndrome
Kyphosis, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ... OMIM:203800
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Cystinosis
Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Gait disturbanc... ORPHA:213
Ck Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Hyperlordosis OMIM:300831
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... OMIM:246200
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Camptodactyly of finger, Muscular d... ORPHA:272
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short neck, Thoracolumbar ... OMIM:616549
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Joint contracture of the hand, Camptodactyly of finger, Shoulder m... ORPHA:1826
3Mc Syndrome 2
Diastasis recti, Torticollis, Hypoplasia of the musculature, Abnormality of the vertebral column,... OMIM:265050
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Scoliosis, Hypothyroidism, Hypocholesterolemia OMIM:610883
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Inguinal hernia, Camptodactyly of finger, Scoliosis, Umbilical hernia ORPHA:1101
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... OMIM:608810
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Elevated circulating creatine kinase concentration, Lower limb ... OMIM:254130
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Increased serum serotonin, Small for gestational age ORPHA:85288
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Scoliosis, Unsteady gait OMIM:300861
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Kyphosis, Ataxia, Scoliosis ORPHA:85317
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated c... OMIM:606070
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Male infertility, Inguinal hernia OMIM:261550
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Lipoma, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmetria, Hyperthyroid... ORPHA:502423
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... ORPHA:254361
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Loss of ambulation, Ataxia, Scoliosis, Foot dorsiflexor weakness, Unsteady gait, Obesit... OMIM:618124
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Ske... OMIM:618393
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, H... OMIM:617713
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotrop... ORPHA:298
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Increased serum pyruvate OMIM:300816
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Elevated circulating creatine kinase concentration, Type... ORPHA:972
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Neu-Laxova Syndrome
Abnormal hair morphology, Flexion contracture, Muscular dystrophy, Scoliosis, Aplasia/Hypoplasia ... ORPHA:2671
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Difficulty walking, Myopathy OMIM:618242
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Extremely elevated creatine kinase, Inability to walk, EMG: myopathic abnormalities, Lower limb m... ORPHA:99939
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tip-toe gait, Left ventricular hypertrophy, Hypoketotic hypogly... ORPHA:746
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, R... OMIM:212138
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Ataxia, Hepatomegaly, Flexion contracture, Steatorrhea, Dysmetria, Pancreatic ... OMIM:616263
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... OMIM:617114
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Autosomal Dominant Optic Atrophy, Classic Form
Ataxia, Weakness of facial musculature, Gait disturbance, Hypothyroidism, Hypogonadism, Scapular ... ORPHA:98673
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Scoliosis, Camptodactyly, Elevated hepatic... ORPHA:79324
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... OMIM:618291
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure,... OMIM:256810
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... OMIM:608840
Cdkl5-Deficiency Disorder
Gait disturbance, Kyphosis, Difficulty walking, Scoliosis ORPHA:505652
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Inability to walk, EMG: myopathic abnormalities, Elevated circulating creatine k... OMIM:609560
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakne... ORPHA:94124
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Flynn-Aird Syndrome
Kyphosis, Ataxia, Type II diabetes mellitus, Abnormality of the thyroid gland, Alopecia, Cachexia... ORPHA:2047
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities, Rimmed v... ORPHA:329478
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, Elevated circulatin... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Quadriceps muscle weakness, Limb muscle weakness, Hyperthyroidism, Eleva... ORPHA:254892
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Dpm1-Cdg
Failure to thrive, Ataxia, Hepatomegaly, Hepatosplenomegaly, Muscular dystrophy, Elevated circula... ORPHA:79322
Fucosidosis
Failure to thrive, Kyphosis, Lipoatrophy, Hepatomegaly, Anterior beaking of lumbar vertebrae, Hyp... ORPHA:349
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
19P13.12 Microdeletion Syndrome
Kyphosis, Generalized hirsutism, Hyperlipidemia, Precocious puberty, Short neck, Scoliosis, Hypot... ORPHA:254346
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... ORPHA:119
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Inability to walk, Short neck, Scoliosis, Difficulty walking, Arthrogr... OMIM:611890
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Hirsutism, Microvesicular hepatic steatosis, Low anterior hairline, Hy... OMIM:220111
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis, Myopathy OMIM:300270
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Facial myokymia OMIM:620007
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Bradykinesia, Limb ataxia, Weakness of facial muscul... OMIM:258450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Kyphosis, Scoliosis ORPHA:2429
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, S... ORPHA:3191
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Aromatase Deficiency
Generalized hirsutism, Female infertility, Hyperlipidemia, Eunuchoid habitus, Type II diabetes me... ORPHA:91
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... ORPHA:899
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Scoliosis, Hypercholesterolemia, Obesity ORPHA:254531
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Facial palsy, Cyanosis, Scoliosis, Type 1 muscle ... ORPHA:98913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopecia... OMIM:608612
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Autosomal Dominant Optic Atrophy Plus Syndrome
Ataxia, Limb-girdle muscle weakness, Myopathy, Diabetes mellitus ORPHA:1215
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Falls, Generalized bone demineral... ORPHA:3101
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle m... OMIM:607155
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Tenorio Syndrome
Hypertrichosis, Hypoinsulinemia, Thick eyebrow, Macroglossia, Scoliosis, Gait disturbance, Hypogl... OMIM:616260
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Jaundice, Myopathy, Ataxia ORPHA:33574
Caffey Disease
Subperiosteal bone formation, Cortical irregularity, Periosteal thickening of long tubular bones,... OMIM:114000
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrop... OMIM:619040
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lower limb musc... OMIM:617950
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Myofibrillar my... OMIM:609452
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Marden-Walker Syndrome
Failure to thrive, Kyphosis, Camptodactyly of finger, Muscular dystrophy, Scoliosis, Abnormal for... ORPHA:2461
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Atypical Werner Syndrome
Hyperinsulinemia, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of circulating leptin l... ORPHA:79474
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Amyoplasia, Flexion contracture, Abnormal cervical curvature, Vertebral fusion OMIM:253290
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia,... OMIM:618120
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Hypertrichosis, Hirsutism, Viral ... ORPHA:101330
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Myopathy ORPHA:977
Wrinkly Skin Syndrome
Failure to thrive, Kyphosis, Hypoplasia of the musculature, Sparse hair, Inguinal hernia, Short n... OMIM:278250
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase conce... OMIM:618805
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Alopecia, EMG: myopathic abnormalities, Increased i... ORPHA:98907
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Atlantoaxial insta... OMIM:607326
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Weismann-Netter Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Sengers Syndrome
Myopathy OMIM:212350
Shashi-Pena Syndrome
Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Hyperthyroidism, Dysdiadochokinesis, Increased... OMIM:617675
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Ataxia, Failure to thrive, Microvesicular hepatic steatosis, Brittle ha... OMIM:124000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Sialidosis Type 2
Kyphosis, Ataxia, Hepatomegaly, Inguinal hernia, Flexion contracture, Splenomegaly, Umbilical her... ORPHA:87876
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Primary amenorrhea, Oligomenorrhea, Decrea... ORPHA:79239
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty acid conce... OMIM:608836
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Kyphoscoliosis, Pancreatitis, Inguinal hernia, Brittle hair, Biconcave vertebr... OMIM:236200
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Camp... OMIM:175700
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 46