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Gene: Samd4 MGI:1921730

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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

Order Alleles

IMPC Data Collections

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

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.

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
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Lipodystrophy, Elevated circula... OMIM:615980
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... OMIM:608423
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... OMIM:618484
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber... OMIM:500002
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-... OMIM:616228
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... ORPHA:486815
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevate... OMIM:254110
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase con... OMIM:248800
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... OMIM:608358
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... OMIM:616471
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... OMIM:619733
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Ab... ORPHA:399081
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Centrall... ORPHA:86812
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion contracture, I... OMIM:602771
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Increased connectiv... OMIM:616852
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Central... OMIM:619542
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:611705
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid con... ORPHA:171439
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:613530
Merrf
Multiple lipomas, Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:614321
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Gait disturban... ORPHA:352470
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis OMIM:611225
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... ORPHA:528
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Generalized hirsutism, Loss of facial adipose... ORPHA:79083
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... OMIM:609200
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... ORPHA:98863
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Lethargy, Failu... ORPHA:26792
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... OMIM:620386
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Inability t... OMIM:617066
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Gait disturbance ORPHA:85193
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, Gait disturbance, EMG: myo... OMIM:605820
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98853
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, E... OMIM:158810
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Myopathy, Hepatic steatosis, Generalized hirsutism ORPHA:79087
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Nemaline Myopathy 6
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Gait distu... OMIM:609273
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... OMIM:255200
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Inab... ORPHA:276435
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Difficul... ORPHA:401768
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Myopathy, Myofibrillar, 5
Waddling gait, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inc... OMIM:609524
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Proximal amyotrophy... ORPHA:2596
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee f... OMIM:610687
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentrati... OMIM:255160
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
Rigid Spine Syndrome
Waddling gait, Hip contracture, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Elbow fl... ORPHA:97244
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Hepatic steatosis, Mildly ele... OMIM:618400
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Rhabdomyolysis, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... OMIM:620235
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral... OMIM:271530
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Gnathodiaphyseal Dysplasia
Osteopenia, Thickened cortex of long bones, Scoliosis ORPHA:53697
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia, Type II diabetes mellitus ORPHA:2579
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of the musculatur... ORPHA:231226
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu... OMIM:254940
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Elevated circulatin... ORPHA:42
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... OMIM:617072
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase conce... ORPHA:353327
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101075
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atroph... ORPHA:2463
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... OMIM:614807
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion contracture, Myopathy,... ORPHA:157973
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism... ORPHA:85323
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,... OMIM:612937
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:617258
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Myopathy, Abnormal circulating creatine kinase concentration, Hy... ORPHA:559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Hyperlordosis, Increased adipose tissue, Kyph... OMIM:617404
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... OMIM:600175
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Elevated circulating creatine kinase concentration, Hyperlordosis, Cry... ORPHA:408
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of ... ORPHA:231214
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Widening of cervical spinal canal, Hypoplasia of the musculat... OMIM:253310
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Elevated circulating creatine kinase concentration,... OMIM:301830
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... ORPHA:169189
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Hypercapnia, Hypoplasi... ORPHA:2020
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase co... OMIM:300695
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:101078
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Kyphoscoliosis, ... ORPHA:597
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Myop... ORPHA:300179
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder ... OMIM:620369
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl... OMIM:300718
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... OMIM:619566
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Kyphosis, Abnormality of bone mineral ... ORPHA:2114
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Elevated circulating aspartate aminotransferase concentration, E... OMIM:607091
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Failure to thrive, Flexion contracture, Kyphosis OMIM:618237
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Elevated circulating creatine kinase concentration, Proximal muscle weakness in lo... ORPHA:1878
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta... OMIM:620351
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... OMIM:609284
Familial Isolated Dilated Cardiomyopathy
Myopathy, Lipoatrophy, Elevated circulating creatine kinase concentration ORPHA:154
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Limb muscle weakness, Type 1 muscle ... OMIM:161800
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Elevated circulating creatine... OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies ORPHA:1802
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Hypohidrosis, Muscular dystrophy, Aplasia/Hypop... ORPHA:2926
Muscle Filaminopathy
Extremely elevated creatine kinase, Back pain, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Elevated circulating creatine kinase concentratio... OMIM:255100
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased connective... OMIM:253601
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating... OMIM:617872
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli... OMIM:616756
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Elevated circulating creatine kinase concentration, Hyperlordosis, Myopathy, Shoulder girdle musc... OMIM:615156
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Insulin re... ORPHA:79086
Myopathy, Centronuclear, 5
Hip contracture, Abnormal circulating creatine kinase concentration, Weakness of facial musculatu... OMIM:615959
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Umbilical hernia... ORPHA:2349
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Incr... OMIM:611307
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra... ORPHA:206599
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... OMIM:620138
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achil... OMIM:310300
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Loss of ability ... ORPHA:98911
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... ORPHA:596
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Waddling gait, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lowe... OMIM:616924
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Steppage gait, Mildly elevat... ORPHA:399086
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Increased circulating co... ORPHA:189427
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
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
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Facial palsy, Increa... OMIM:614399
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... OMIM:620249
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies OMIM:616583
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Elevated ci... ORPHA:353
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Elevated circula... OMIM:160500
Typical Nemaline Myopathy
Waddling gait, Elevated circulating creatine kinase concentration, Facial palsy, Short neck, Hype... ORPHA:171436
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kina... ORPHA:97240
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy, Elevated circulating creatine kinase concentration ORPHA:88635
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi... OMIM:603034
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... ORPHA:75840
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Benign Samaritan Congenital Myopathy
Lethargy, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Myopathy, Myofibrillar, 6
Scapular winging, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Facial ... OMIM:612954
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy, Scoliosis ORPHA:50817
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal enchondral ossification, Kyphosis, Abnormal for... ORPHA:2635
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Camptodactyly of finger, Interphalangeal joint contrac... OMIM:305620
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Ataxia, Hypoglycemia, Anterior pituitar... ORPHA:453533
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Joint contracture, Hypoplasia of the musculature OMIM:225790
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Elevated circulating ... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... OMIM:618848
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Myopathy, Skeletal muscle atrophy ORPHA:2597
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Increa... ORPHA:264580
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... ORPHA:970
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615368
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... ORPHA:276575
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Myopathy, Distal, 3
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... OMIM:610099
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis ORPHA:2598
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short neck, Low anterior hairline, Primary amenorrhea, ... OMIM:616033
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, ... OMIM:212065
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Hyperlordosis, Myopathy, Abnormal cir... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hand ... ORPHA:254886
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... ORPHA:610
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy OMIM:160570
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Hypoglycemi... ORPHA:48431
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Impair... OMIM:619574
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Osteochondrosis Of The Metatarsal Bone
Thickened cortex of bones, Sclerosis of foot bone, Difficulty walking ORPHA:564003
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Failure to thrive, Cyanosis ORPHA:91130
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Sprengel Deformity
Torticollis, Short neck, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature ORPHA:3181
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... OMIM:618524
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Alg9-Cdg
Omphalocele, Hepatomegaly, Torticollis, Lipodystrophy, Hypoplasia of the musculature, Short neck,... ORPHA:79328
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:608594
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Scolios... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers, Ataxia, Difficulty walking OMIM:618242
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Ataxia, Centrally nucleated skeletal... OMIM:607459
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:269700
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers OMIM:540000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Flexion contract... OMIM:603511
Leber Hereditary Optic Neuropathy
Myopathy, Ataxia ORPHA:104
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Thoracic scoliosis, Multiple joint contr... ORPHA:2959
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replaceme... ORPHA:52430
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:99014
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... OMIM:500009
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Masa Syndrome
Kyphosis, Shuffling gait, Hyperlordosis OMIM:303350
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog... ORPHA:79237
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Inability to walk, Abnormal skeletal musc... ORPHA:2912
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Hypophosphatasia, Childhood
Waddling gait, Myopathy, Elevated plasma pyrophosphate OMIM:241510
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Abnormality of the... ORPHA:905
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy, Hypertrichosis OMIM:201550
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... ORPHA:99901
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Potocki-Lupski Syndrome
Small for gestational age, Scoliosis, Hypocholesterolemia, Failure to thrive, Hypothyroidism OMIM:610883
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... OMIM:300559
Weismann-Netter Syndrome
Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
3Mc Syndrome 2
Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle agenesis, H... OMIM:265050
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... ORPHA:14
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Ck Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Hyperlordosis OMIM:300831
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexio... ORPHA:367
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Proteus Syndrome
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... OMIM:176920
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Thick hair, Increased variability in muscle fiber diameter, Primary amenorrhea, ... ORPHA:502423
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Scoliosis, Neck muscle h... OMIM:184400
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... ORPHA:272
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:203800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Hypothyroidism, Hepat... OMIM:619013
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketoti... ORPHA:79240
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Gait disturbance ORPHA:1875
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, Scoliosi... ORPHA:1101
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:254881
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Myopathy, Hypokalemia, Gait disturbance, Hyp... ORPHA:213
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Pyle Disease
Platyspondyly, Scoliosis, Thin bony cortex, Reduced bone mineral density OMIM:265900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Frontometaphyseal Dysplasia
Camptodactyly of finger, Interphalangeal joint contracture of finger, Hypoplasia of the musculatu... ORPHA:1826
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis OMIM:610743
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Myopathy, Cervi... OMIM:616549
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid... OMIM:266510
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Reduced C-peptide level, Weight loss... ORPHA:2126
Cdkl5-Deficiency Disorder
Kyphosis, Difficulty walking, Gait disturbance, Scoliosis ORPHA:505652
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism ORPHA:85288
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase... OMIM:607855
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Unsteady gait, Ataxia, Scoliosis OMIM:300861
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Crypto... ORPHA:79324
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... OMIM:261550
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Gait disturbance, Ataxia, Scoliosis ORPHA:85317
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ataxia, Increased variability in muscle fiber diameter, Gait disturbance OMIM:125250
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal myopathy,... ORPHA:746
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... ORPHA:298
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Inability to walk, Facial diplegia... OMIM:611890
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:256810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating crea... OMIM:201475
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Extremely elevated creatine kinase, Inability to walk, Upper limb muscle weakness, Distal amyotro... ORPHA:99939
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
19P13.12 Microdeletion Syndrome
Short neck, Precocious puberty, Cryptorchidism, Hyperlipidemia, Kyphosis, Synophrys, Obesity, Hyp... ORPHA:254346
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc... ORPHA:369
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Gm1-Gangliosidosis, Type Iii
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, Kyphosis, Unsteady gait, Obesity, Scoliosis, Loss of amb... OMIM:618124
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis mult... OMIM:618393
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Distal amyotrophy, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower lim... ORPHA:94124
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, I... OMIM:609560
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... ORPHA:98907
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... OMIM:606070
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Ataxia, Myopathy, Hypogonadism, Gai... ORPHA:98673
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... ORPHA:254361
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr... OMIM:261680
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Abnormality of the thyroid gland, Kyphosis, ... ORPHA:2047
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia OMIM:620007
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contractu... ORPHA:2671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El... OMIM:608840
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... OMIM:616263
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:79322
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... ORPHA:254892
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Calf muscle ... ORPHA:119
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Tip-toe gait, Muscular dys... OMIM:254130
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... OMIM:616834
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... ORPHA:329478
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cryptorchidism, Abnormal circulating creatine kinase concentration, Musc... ORPHA:899
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged... OMIM:258450
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... OMIM:300219
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Steatorrhea, Failu... OMIM:246700
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Abnormal glycosphingolipid metabolism, Failure to t... ORPHA:796
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Scoliosis, Hypercholesterolemia ORPHA:254531
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elevated circulating... OMIM:614300
Tenorio Syndrome
Hypoglycemia, Macroglossia, Gait disturbance, Scoliosis, Hypoinsulinemia, Thick eyebrow, Hypertri... OMIM:616260
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2429
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... OMIM:248370
Fucosidosis
Hepatomegaly, Decreased muscle mass, Failure to thrive, Lipoatrophy, Kyphosis, Abnormality of the... ORPHA:349
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Shoulder flexion co... OMIM:617114
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:619040
3-Methylglutaconic Aciduria, Type V
Ataxia, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Microvesic... OMIM:610198
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Diabetes mellitus, Ataxia, Myopathy ORPHA:1215
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes melli... ORPHA:3191
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus... OMIM:608340
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... OMIM:607155
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Wrinkly Skin Syndrome
Scapular winging, Inguinal hernia, Short nail, Hypoplasia of the musculature, Cryptorchidism, Kyp... OMIM:278250
Glutamate-Cysteine Ligase Deficiency
Myopathy, Jaundice, Ataxia, Hepatosplenomegaly ORPHA:33574
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... OMIM:609452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... OMIM:618120
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal amyotrophy, Steppage gait, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... OMIM:619473
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Gait disturbance OMIM:614898
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair... ORPHA:79474
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Caffey Disease
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... OMIM:114000
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Cryptorchidism, Kyphosis, Cong... ORPHA:352490
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Weight loss, Distal amyotrophy, Skelet... ORPHA:3208
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Myopathy, Scoliosis, Weakness of facial musculature, Failure to thri... OMIM:201470
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... ORPHA:263501
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio... ORPHA:682
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Umbilica... OMIM:175700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
Weismann-Netter Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy, Failure to thrive, Hepatic steatosis ORPHA:977
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, A... ORPHA:79239
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... OMIM:618805
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Akinesia, Flexion contracture, Amyoplasia OMIM:253290
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Long eyelashes, Faci... OMIM:618658
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscul... OMIM:602541
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Flexion c... ORPHA:87876
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Kyphoscoliosis, Hyperhomocystinemia, Hypermethioninemia, Scoliosis... OMIM:236200
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Creatine Phosphokinase, Elevated Serum
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... OMIM:123320
Immunodeficiency 9
Myopathy, Hypoplasia of the thymus, Difficulty walking, Failure to thrive, Amelogenesis imperfecta OMIM:612782
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulatin... OMIM:615084
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Waddling gait, Left ventricular hypertrophy, Elevated circulating ... OMIM:300280
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Myopathy, Small intes... ORPHA:100093
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal dental enamel morphology, Myopathy, Abnormal circulating calcium-pho... ORPHA:2238
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Inability to walk, Decreased liver function, Failure to thrive,... ORPHA:70472
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Inabilit... OMIM:617675
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red ... OMIM:609286
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepatic transaminase, Hyp... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia OMIM:615918
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154275
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Amyoplasia, Flexion contracture, Abnormal cervical curvature OMIM:312150
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154276
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... ORPHA:206569
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Kyphosis, Scoliosis, Umbilical... OMIM:615834
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Sclerosis of skull base, Thoracolumbar scoliosis, Platyspondyly OMIM:313420
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ataxia, Increased adipose tissue, Ragged-red muscle fibers, Multiple li... ORPHA:1349
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Distal amyo... OMIM:208920
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Macroglossia, Type II diabetes... ORPHA:61
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... OMIM:620285
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Myopathy, Thyroi... ORPHA:109
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis, Thin bony cortex OMIM:619638
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib... OMIM:618416
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98797
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Obesity, Increa... OMIM:219090
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Decreased cir... ORPHA:90674
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Le... OMIM:613561
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Myopathy, Increased variability in muscle fiber diameter,... OMIM:604377
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... OMIM:606407
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Abnormal enchondral ossification, In... ORPHA:93314
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Kyphosis, Low posterior hairline, Premature ... ORPHA:2617
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Spastic gait, Infertility, Scoliosis, Upper limb dysmetria, Limb muscle weakness, Lower... OMIM:614409
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy... ORPHA:681
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma ORPHA:210548
Dpm3-Cdg
Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... ORPHA:263494
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... ORPHA:2394
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty... ORPHA:633
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Kyphosis, Flexion contracture, Inability to walk, O... OMIM:615547
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex OMIM:174810
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis OMIM:234250
Sengers Syndrome
Myopathy, Premature ovarian insufficiency OMIM:212350
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Ataxia, Myopathy, Hepatic steatosis OMIM:275630
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Puberty and gonadal dis... ORPHA:464282
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithiasis, Short neck, Spl... OMIM:611881
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Smith-Mccort Dysplasia 1
Waddling gait, Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid pro... OMIM:607326
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Acute hepatic steatosis, Lethargy, Failure to thrive OMIM:210200
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes... OMIM:301900
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... ORPHA:2849
Osteogenesis Imperfecta, Type Ix
Kyphosis, Decreased calvarial ossification, Scoliosis, Platyspondyly OMIM:259440
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Diaphragmatic eventration, Ataxia, Bilateral cryptorchidism, Micro... ORPHA:66634
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Hypoglycemia,... OMIM:124000
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Hypokalemia OMIM:613345
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Mcdonough Syndrome
Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Synophr... ORPHA:2471
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... OMIM:226670
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Myopathy ORPHA:166002
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop... OMIM:255125
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Sparse hair, Lower ... OMIM:606721
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Ataxia, Hypothyroidism, Rag... ORPHA:550
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... OMIM:615160
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Transient hyp... ORPHA:156
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
9Q31.1Q31.3 Microdeletion Syndrome
Cervical kyphosis, Highly arched eyebrow, Short neck, Overweight, Thick hair, Type II diabetes me... ORPHA:401923
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante... ORPHA:800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Ragged-red muscle fi... ORPHA:480
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Skeletal muscle steatosis, Gait disturbance, Decreased liver function, Glyc... ORPHA:436271
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... ORPHA:57
Bruck Syndrome 1
Kyphosis, Osteoporosis, Vertebral wedging, Platyspondyly, Scoliosis OMIM:259450
Leigh Syndrome
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ataxia, Hypoglycemia, Choreoathet... ORPHA:506
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas... OMIM:620240
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Gm1-Gangliosidosis, Type Ii
Ataxia, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance, Scoliosis, Thoracolumbar k... OMIM:230600
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:616239
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration OMIM:261670
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the ver... ORPHA:750
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Myopathy, Limb-girdle muscular dystrophy, Difficulty walking, Scoliosis ORPHA:369847
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia ORPHA:319199
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... ORPHA:206572
Sanjad-Sakati Syndrome
Hypoparathyroidism, Abnormal dental enamel morphology, Cryptorchidism, Spinal canal stenosis, Myo... ORPHA:2323
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... ORPHA:261476
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia OMIM:618810
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Diabetes mellitus, Upper limb muscle we... ORPHA:263297
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... ORPHA:79303
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Abno... ORPHA:79106
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis OMIM:201450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C... OMIM:613157
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, Abnorm... ORPHA:2953
Bruck Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Scoliosis ORPHA:2771
Gorham-Stout Disease
Osteopenia, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones... ORPHA:73
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidemia, Delayed puberty... ORPHA:79259
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature... ORPHA:600
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Splenomegaly, Jaundice, Kyphosis, Unsteady gait, Myopathy, Cholecystitis... OMIM:615512
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Cryptorchidism, Kyphosis, Gait ataxia, Macroglossia, Abdominal obes... OMIM:300354
Contractural Arachnodactyly, Congenital
Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Elbow flexion contracture... OMIM:121050
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation tes... ORPHA:95619
Muscle-Eye-Brain Disease
Myopathy, Gait disturbance, Elevated circulating creatine kinase concentration ORPHA:588
Baralle-Macken Syndrome
Inability to walk, Kyphosis OMIM:619255
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Flexion contracture, Choreoathetosis, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Inguinal hernia, Elevated circulating creatine kinase concentration... OMIM:620326
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Waddling gait, Cyanosis, Ataxia, Kyphoscoliosis, Spinal rigidity,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Waddling gait, Cyanosis, Ataxia, Kyphoscoliosis, Spinal rigidity,... ORPHA:98914
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Lopes-Maciel-Rodan Syndrome
Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypokalemia OMIM:170400
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle mus... ORPHA:64755
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Cystinosis, Nephropathic
Skeletal muscle atrophy, Hypophosphatemic rickets, Male hypogonadism, Hyponatremia, Male infertil... OMIM:219800
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Atypical Rett Syndrome
Kyphosis, Inability to walk, Gait ataxia, Gait disturbance, Scoliosis, Loss of ambulation ORPHA:3095
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Cockayne Syndrome Type 2
Hepatomegaly, Ataxia, Scarring, Cryptorchidism, Kyphosis, Flexion contracture, Gait disturbance, ... ORPHA:90322
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Decreased liver function, Lethargy, Hepatic steatosis OMIM:614922
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Axial Osteomalacia
Myopathy, Polycystic liver disease, Elevated circulating creatine kinase concentration OMIM:109130
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, G... ORPHA:812
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... OMIM:615356
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Immunodeficiency 10
Myopathy, Hypohidrosis, Amelogenesis imperfecta OMIM:612783
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Increased body weight, Lethargy, Hypothalamic luteinizing hormon... ORPHA:398069
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myo... ORPHA:98915
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... ORPHA:348
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Ele... OMIM:162300
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Splenomegaly, Inability to walk, Flexion contracture, Synophrys, Low an... OMIM:617303
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia OMIM:300653
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Kyphosis, Scoliosis OMIM:130060
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia, Hyperbilirubinemia ORPHA:713
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Hyperhidrosis, Distal amyotrophy, Scoliosis OMIM:609541
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Polymyositis
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... ORPHA:732
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Gm1 Gangliosidosis
Inguinal hernia, Ataxia, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Kyphosis, Aplasia/... ORPHA:354
Isochromosomy Yq
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98798
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Glycosuria, Decreased liver function, Increased intramyocellular lipid drop... OMIM:220110
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Gait disturbance, Myopathy ORPHA:85329
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Increased circulating ferritin concentration, Ragged-red muscle ... OMIM:600462
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Synophrys, Increased body weight, Scolios... OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoli... ORPHA:371364
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Lower... ORPHA:300605
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism, Flexion con... ORPHA:3409
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Small hypothenar eminence, Streak ovary, Lumbar hy... ORPHA:2232
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Obesity, Akinesia OMIM:618822
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology ORPHA:166277
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, F... ORPHA:404454
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... ORPHA:20
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Kyphosis, Gait ataxia ORPHA:500180
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration,... OMIM:219080
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small for gestational age, Hyp... OMIM:613658
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Hirsu... OMIM:616455
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Insulin resistance, H... ORPHA:508
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Myopathy, Patchy alopecia, Progressive l... ORPHA:90289
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Congenital finger flexion c... OMIM:108145
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Hypoglycemia, Failure to thrive ORPHA:95428
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... OMIM:231680
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... OMIM:173800
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Anhidrosis, Splenomegaly, Myopathy, Hypocalcification of dental enamel, Amelogenesi... ORPHA:169090
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... OMIM:210900
Prader-Willi Syndrome
Decreased muscle mass, Hypopigmentation of hair, Failure to thrive in infancy, Hypogonadotropic h... OMIM:176270
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hyperhidrosis, Hypohidrosis, Scoliosis ORPHA:1545
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Hypoplastic vertebral bodies, S... ORPHA:3455
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy, Alopecia, Abnormal dental enamel morphology ORPHA:257
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Umbilical hernia, Failure to thrive, Foot dorsiflexor weakness OMIM:169400
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Abnormal hair p... ORPHA:85293
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Ataxia, Acute rhabdomyolysis, Elevated circulating creatine kinase... ORPHA:480864
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Myopathy, Pannic... OMIM:612541
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Wolfram Syndrome
Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Myopathy, Hypogonadism, Delayed puberty... ORPHA:3463
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Synophrys, Obesity, Abnor... ORPHA:819
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability... OMIM:614557
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... ORPHA:699
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral density, Platysp... ORPHA:582
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99413
Mosaic Monosomy X
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99228
Monosomy X
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:99226
Turner Syndrome
Short neck, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alop... ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macroglossia, Hernia, Failure to thrive ORPHA:583
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis ORPHA:702
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Usher Syndrome
Decreased fertility, Myopathy, Ataxia, Abnormal dental enamel morphology ORPHA:886
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Abnormal for... ORPHA:3042
Wieacker-Wolff Syndrome
Facial palsy, Short neck, Hyperlordosis, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypomagnesemia, Type... OMIM:619743
Scleromyxedema
Abnormality of thyroid physiology, Myopathy, Elevated circulating creatine kinase concentration, ... ORPHA:167635
Kaufman Oculocerebrofacial Syndrome
Ovoid vertebral bodies, Sparse eyebrow, Hypocholesterolemia, Sparse hair, Failure to thrive OMIM:244450
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... ORPHA:2311
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Choreoathetosis, Hypothyroidism, Neonatal hypog... ORPHA:445038
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Alopecia, Hypoglycemia, Hyperammonemia, Hyperleuci... OMIM:210210
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Vertebral compression fracture, Generalized osteopo... OMIM:617952
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... OMIM:229600
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Hypercapnia, Facial pals... OMIM:164310
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Abnormal mus... ORPHA:3068
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Spars... OMIM:619127
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty walking, Thin bony c... OMIM:600081
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Ataxia, Gait ataxia OMIM:613077
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia OMIM:618272
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin... OMIM:602579
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Scoliosis ORPHA:1358
Emanuel Syndrome
Inguinal hernia, Torticollis, Sacral dimple, Congenital diaphragmatic hernia, Cryptorchidism, Kyp... OMIM:609029
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Osteolysis, Scoliosis ORPHA:137834
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Hyperlordosis, ... ORPHA:258
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Fibrous dysplasia of the bo... ORPHA:249
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Delayed epiphyseal ossif... OMIM:177170
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... OMIM:618476
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck, Reduced bone mineral density ORPHA:2983
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo... OMIM:619991
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordos... ORPHA:1328
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hypothyroidism ORPHA:90065
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Dysmetria, Increased LDL cholesterol concentr... OMIM:277460
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Abnormality of the spleen, ... ORPHA:1606
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Sacral dimple, Cryptorchidism, Hypocholesterolemia, Sparse la... OMIM:223370
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy OMIM:618975
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Melnick-Needles Syndrome
Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Scoliosis, Abnormal c... ORPHA:2484
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Rett Syndrome
Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia OMIM:312750
Stormorken Syndrome
Asplenia, Myopathy, Hypoplastic spleen, Elevated circulating creatine kinase concentration OMIM:185070
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Kyphosis, Synophrys, Hypertrichosis, Long eyelashes, Scolios... OMIM:617190
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the... OMIM:607015
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Jaberi-Elahi Syndrome
Broad-based gait, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis OMIM:617988
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... ORPHA:85188
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Osteoporosis, Advanced ossification of carpal... OMIM:251450
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty OMIM:180870
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Hypogonadism, Gait disturbance, Scolio... ORPHA:500055
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Kyphoscoliosis, Joint contracture, Failure to thrive, Hypothyroidism, Hirsutism OMIM:618005
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Decreased muscle mass, Thoracic ... ORPHA:1900
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Cryptorchidism, Kyphosis, Scoliosis, Abnormality of muscle size, Slender build ORPHA:364028
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis ORPHA:88628
Cranio-Osteoarthropathy
Abnormal cortical bone morphology ORPHA:1525
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Nail dystrophy, Hypocholesterolemia, L... ORPHA:31150
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Abnormality of th... ORPHA:2075
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... OMIM:112250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty walking, Hypophospha... OMIM:241530
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Diastasis recti, Short... OMIM:253220
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Kyphoscoliosis, Synophrys, A... ORPHA:536545
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Unsteady gait, Knee flexion contracture, Calf... OMIM:618733
Diastrophic Dysplasia
Increased bone mineral density, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypop... ORPHA:628
Osteogenesis Imperfecta, Type Iii
Severe generalized osteoporosis, Kyphosis, Decreased calvarial ossification, Scoliosis, Biconcave... OMIM:259420
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Kyphoscoliosis, Osteoporosis, Osteolysis involving tarsal bones, Metatarsal osteolysi... OMIM:259600
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... ORPHA:785
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Short neck, Cryptorchidism, Kyphosis, Congenital contract... OMIM:248700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphol... ORPHA:2916
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Highly arched eyebrow ORPHA:457365
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis, Reduced bone mineral density OMIM:166220
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Facial palsy, Supernumerary nipple, Sparse eyebrow, Kyp... ORPHA:261349
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Small for gestational age, Ataxia, Highly arched eyebrow, Hypoglycemia, Microves... OMIM:220111
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Short neck, Thick hair, Cryptorc... ORPHA:261318
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger... ORPHA:1883
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hyperlipidemia,... OMIM:232200
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu... ORPHA:365
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, Pr... ORPHA:95496
Barth Syndrome
Fair hair, Skeletal myopathy, Failure to thrive, Gait disturbance OMIM:302060
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Sacral dimple, Precocious puberty, Cryptorchidism, Splenomegaly, Cholestatic liver ... OMIM:270400
Alpha-Mannosidosis, Infantile Form
Facial hypotonia, Ataxia, Highly arched eyebrow, Short neck, Hepatosplenomegaly, Macroglossia, My... ORPHA:309282
Autosomal Recessive Ataxia, Beauce Type
Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis ORPHA:88644
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Cyanosis, Ataxia, Hypoglycemia, Splenomegaly, Ragged-red m... OMIM:252010
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Oste... OMIM:253010
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scolios... OMIM:617602
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Thoracic scoliosis,... ORPHA:536532
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis, Uncombable hai... ORPHA:3082
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Camptodactyly of finge... ORPHA:2215
3M Syndrome
Scapular winging, Abnormal dental enamel morphology, Short neck, Hyperlordosis, Increased vertebr... ORPHA:2616
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone c... OMIM:131100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Kyphoscoliosis, Short neck, Osteoporosis, Scoliosis, Vertebral compression frac... OMIM:309583
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnorm... ORPHA:423
Srd5A3-Cdg
Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone stimulation test, Abn... ORPHA:324737
Poland Syndrome
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Kyphosis, Aplasia... ORPHA:2911
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Alexander Disease
Diabetes mellitus, Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious puberty,... ORPHA:58
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unstea... OMIM:618443
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... OMIM:616267
Leber Optic Atrophy
Myopathy, Ataxia OMIM:535000
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... OMIM:620278
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Vici Syndrome
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Myopathy,... OMIM:242840
Hereditary Xanthinuria
Myopathy, Hypouricemia, Hyperxanthinemia ORPHA:3467
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic stea... OMIM:619321
Dysostosis, Stanescu Type
Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken... ORPHA:1798
Xanthinuria, Type I
Myopathy, Hyperxanthinemia OMIM:278300
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive OMIM:608776
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Myopathy, Neonatal hypoglycemia OMIM:261740
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Maternal diabetes ORPHA:2549
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Hydrocele testis, Hernia, Camptodactyly... ORPHA:314588
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short neck, Cryptorchidism, Kyphosis, C... OMIM:130720
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentra... ORPHA:1320
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Diaphragmatic eventration, Thoracolumbar scoliosis,... OMIM:265000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture OMIM:603387
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal form of the vertebral bodies, Dysmet... ORPHA:904
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Congenital contracture, Progressive gait ataxia, Hepatomegaly,... ORPHA:191
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty walking, Thin bony c... OMIM:264700
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Hypoplasia of the odontoid process, Flex... OMIM:607014
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Osteogenesis Imperfecta, Type Viii
Osteopenia, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Type 1 collagen... OMIM:610915
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Abnormal blood potassium concentration ORPHA:684
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty walking, Thin bony c... OMIM:277440
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Synophrys, Abnormal curvature of the vertebral column, Hepatic steatosis, Ataxia, Over... OMIM:619475
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypopla... OMIM:267000
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Waddling gait, Lumbar hyperlordosis, Short neck, Multicentric ossifi... OMIM:223800
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Fountain Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... ORPHA:3219
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Large for gestational age, Short neck, Microvesicular hepatic stea... OMIM:300868
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... ORPHA:3121
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Sparse eyelashes, D... ORPHA:125
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis OMIM:619718
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Gait imbalance, Sco... OMIM:211530
Megalocornea-Intellectual Disability Syndrome
Ataxia, Kyphosis, Scoliosis, Hypercholesterolemia, Hypothyroidism ORPHA:2479
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Oligozoospermia, Macroorchidism ORPHA:3000
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Thyroid adenoma, Hypothyroid... OMIM:615108
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Flexion contracture, Hepatospl... OMIM:309900
Microform Holoprosencephaly
Maternal diabetes, Panhypopituitarism, Scoliosis, EMG: myopathic abnormalities, Hypothyroidism ORPHA:280200
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Verte... OMIM:613848
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... ORPHA:2388
Ogden Syndrome
Inguinal hernia, Torticollis, Maternal diabetes, Short neck, Sparse eyebrow, Cryptorchidism, Jaun... OMIM:300855
Cole-Carpenter Syndrome 2
Osteopenia, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal craniosynostosis OMIM:616294
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... ORPHA:3464
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty walkin... ORPHA:289157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism, Contractures of the large joints, Palmoplantar hyperhidrosis... OMIM:617527
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ... ORPHA:168572
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan... OMIM:616914
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hypothyroidism, Hepatit... OMIM:615846
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Thyroid adenoma, Hypothyroid... OMIM:615109
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Dry hair, Ataxia, Anhidrosis,... OMIM:216400
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... OMIM:309000
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy, Hepatomegaly OMIM:115197
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Ky... ORPHA:280
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... ORPHA:457359
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, A... ORPHA:363618
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Low anterior hairline, Kyphosis, Obesity ORPHA:261222
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Hypoxemia, Thoracolumbar kyphosis... ORPHA:15
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Scoliosis, Hernia ORPHA:3378
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, L... OMIM:300257
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis OMIM:603776
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Diastasis recti, Splenomegaly, Kyphosis, Inability to... ORPHA:576
Oculodentodigital Dysplasia
Ataxia, Cranial hyperostosis, Abnormal form of the vertebral bodies, Hyperostosis, Gait disturban... ORPHA:2710
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Fair hair, Small for gestational age, Abnormality of hair textur... OMIM:610443
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of h... OMIM:617061
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Hypoplastic vertebral bodies, ... OMIM:230500
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Sparse pub... ORPHA:99429
Digeorge Syndrome
Inguinal hernia, Pilonidal sinus, Femoral hernia, Cholelithiasis, Parathyroid agenesis, Decreased... OMIM:188400
Duane-Radial Ray Syndrome
Facial palsy, Spina bifida occulta, Small thenar eminence, Fused cervical vertebrae, Pectoralis h... OMIM:607323
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Scoliosis, Thyroid adenoma, Hypothyroid... OMIM:158350
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2789
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Hyperhidrosis, Contractures of the large joints, Failure to thrive, Hirsutism, Limb hyp... ORPHA:521426
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Neuhauser Syndrome
Hypercholesterolemia, Ataxia, Low anterior hairline, Primary hypothyroidism OMIM:249310
Weaver Syndrome
Inguinal hernia, Diastasis recti, Cryptorchidism, Kyphosis, Fine hair, Hydrocele testis, Scoliosi... OMIM:277590
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Prominent c... OMIM:300966
Pachydermoperiostosis
Abnormal cortical bone morphology, Osteoporosis, Osteolysis, Scoliosis ORPHA:2796
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Hyponatremia, Abnormal dental enamel morphology, Cryptorchidi... ORPHA:534
Dermatomyositis
Abnormal hair quantity, Weight loss, Inflammatory myopathy, Cellulitis, Acrocyanosis, Chondrocalc... ORPHA:221
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Microvesicular hepati... OMIM:203700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Kyphosis, S... OMIM:619951
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Cowden Syndrome
Ataxia, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Macroglossia, S... ORPHA:201
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hai... ORPHA:96169
Proteus Syndrome
Decreased muscle mass, Macroorchidism, Thymus hyperplasia, Abnormal dental enamel morphology, Tes... ORPHA:744
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Kyphoscoliosis OMIM:618348
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failure to thrive OMIM:239000
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Kyphoscoliosis, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Biconcave vertebral... OMIM:259770
Noonan Syndrome 14
Curly hair, Scapular winging, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior... OMIM:619745
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholest... OMIM:619471
Postencephalitic Parkinsonism
Kyphosis, Camptocormia, Akinesia ORPHA:97349
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Cryptorchidism, Kyphosis... ORPHA:464311
3C Syndrome
Inguinal hernia, Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scoliosis ORPHA:7
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchi... ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Spondyloocular Syndrome
Osteopenia, Unsteady gait, Platyspondyly, Vertebral compression fracture, Thin bony cortex OMIM:605822
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Abnormal hair morphology, Cryptorchidism, K... ORPHA:251014
Stromme Syndrome
Accessory spleen, Myopathy OMIM:243605
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis ORPHA:1969
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Kyphosis, Inability to walk, Scoliosis, Diffi... ORPHA:464738
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteolysis, Vertebral compression fracture ORPHA:77259
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, H... OMIM:118450
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Kyphosis, Cranial hyperostosis, Osteopetrosis, Scoliosis, Facial ... ORPHA:2658
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis, Umbilical hernia OMIM:301040
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Ataxia, Akinesia, Choreoathetosis, Myopathy, Bradykinesia, Gait disturbance OMIM:234200
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Anhidrosis, Small for gestational ag... OMIM:133540
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Scoliosis, Spinal canal stenosis, Thin bony cortex OMIM:277600
Osteogenesis Imperfecta
Osteopenia, Ataxia, Cervical kyphosis, Kyphosis, Osteoporosis, Vertebral compression fracture, Ab... ORPHA:666
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Kyphoscoliosis, Sparse eyebrow, Cryptorchidism, Kyphosis, Unsteady gait, I... ORPHA:3063
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Sco... ORPHA:192
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, ... ORPHA:193
Harrod Syndrome
Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis ORPHA:2115
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Kyphosis, Hypohidrosis, Vertebral segmentation defec... ORPHA:1005
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly OMIM:619123
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Kyphosis, Synophrys, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Bilateral c... OMIM:602535
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline, Limb hypertonia OMIM:619909
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c... ORPHA:77301
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... OMIM:249420
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Hypoplastic 5th lumbar vertebrae, Splenomegaly, Kyphos... ORPHA:955
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... ORPHA:79318
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Mend Syndrome
Sacral dimple, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Kyphosis... ORPHA:401973
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Hemivertebrae, Decreased circulating renin level, Hyponatre... OMIM:201750
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco... OMIM:618278
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Osteoporosis, Scoliosis, Abnormal cortical bone morphology, Thickened ... ORPHA:3206
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Dry hair, Splenomegaly, Kyp... ORPHA:90324
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Broad-ba... ORPHA:268261
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Kyphosis, Inguinal hernia, Scoliosis OMIM:616449
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Camp... OMIM:616894
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Fair hair, Small for gestational age, Alopecia, Testicular ne... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Fair hair, Small for gestational age, Alopecia, Testicular ne... ORPHA:363958
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In... OMIM:300942
Cdags Syndrome
Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis OMIM:603116
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Caribbean Parkinsonism
Bradykinesia, EMG: myopathic abnormalities, Progressive gait ataxia ORPHA:97355
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Sho... ORPHA:818
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Palmoplantar hyperhidrosis, Nail dystrophy, Hypercholesterolemia, Decreased... OMIM:610644
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelashes, Scoliosis, Decreas... OMIM:619005
Rett Syndrome, Congenital Variant
Kyphosis, Athetosis, Scoliosis OMIM:613454
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... OMIM:143095
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contra... OMIM:619194
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... OMIM:619244
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Ataxia, Dysmetria, Knee flexion contracture OMIM:619708
Micro Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Generalized hirsutism ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Left ventricular noncompaction, Sc... OMIM:300967
Mgat2-Cdg
Abnormality of the endocrine system, Kyphosis, Long eyelashes, Hypoplastic nipples, Scoliosis, Fa... ORPHA:79329
46,Xy Partial Gonadal Dysgenesis
Vanishing testis, Decreased serum estradiol, Male infertility, Streak ovary, Elevated circulating... ORPHA:251510
Arima Syndrome
Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Macroorchi... OMIM:208400
Zttk Syndrome
Absent gallbladder, Curly hair, Sparse eyebrow, Kyphosis, Flexion contracture, Hemivertebrae, Sco... OMIM:617140
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Slender build, Spondylol... ORPHA:558
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Sacral dimple, Alopecia, Camptodactyly of finger, Short neck, Cryptorchidism, Ky... ORPHA:1507
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... OMIM:210250
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Dysdiadochokinesis, Difficulty walking, Dysmetria ORPHA:171629
Ivic Syndrome
Small thenar eminence, Pectoralis major hypoplasia, Scoliosis, Hypoplasia of deltoid muscle OMIM:147750
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Abnormal tendon mo... ORPHA:391665
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational a... OMIM:194190
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Scoliosis, Spinal canal stenosis, Thin bony cortex OMIM:608328
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Kyphosis, Spinal canal sten... ORPHA:828
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Fa... OMIM:219700
Faciocardiomelic Syndrome
Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex OMIM:612731
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Inguinal hernia, Alopecia, Camptodactyly of finger, Abnormal dental ... ORPHA:2273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis, Synophrys OMIM:619557
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Scoliosis ORPHA:261250
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Kyphosis, Scoliosis, Hernia ORPHA:394
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Kyphosis, Jaundice, Hepatit... ORPHA:198
Sotos Syndrome
Hip contracture, Inguinal hernia, Sacrococcygeal teratoma, Hypercalcemia, Ankle flexion contractu... ORPHA:821
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Kyphosis, Hepatitis, Platyspondyly, Hypoth... ORPHA:1855
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Aspartylglucosaminuria
Scoliosis, Anterior beaking of lumbar vertebrae, Beaking of vertebral bodies, Abnormal cortical b... ORPHA:93
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Neurofibromatosis Type 1
Abnormal hair quantity, Ataxia, Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Pr... ORPHA:636
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis OMIM:619482
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Sclerosis of skull base, Platyspondyly, Thin bony cortex OMIM:619727
Coffin-Lowry Syndrome
Inguinal hernia, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Coarse hair, Scoliosis, Decrea... OMIM:303600
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Coffin-Siris Syndrome 1
Sparse scalp hair, Inguinal hernia, Sacral dimple, Dry hair, Congenital diaphragmatic hernia, Cry... OMIM:135900
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Spondylolysis, Scoliosis, Delayed pubic bone ossificati... OMIM:119600
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Fused cervical vertebrae, Shoulder muscle hypoplasia, Hepatosplenomegaly OMIM:274000
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis, Cellulitis OMIM:153400
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Coronal craniosynostosis ORPHA:85199
Mend Syndrome
Cryptorchidism, Sacral dimple, Failure to thrive, Kyphosis OMIM:300960
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptorchidism, Low p... OMIM:163950
Branchiooculofacial Syndrome
Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, Elbow fl... OMIM:113620
Viss Syndrome
Sparse scalp hair, Inguinal hernia, Alopecia, Kyphosis, Hypothyroidism, Hirsutism, Macroglossia, ... OMIM:619472
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
17Q11 Microdeletion Syndrome
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... ORPHA:97685
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Small for gestational age, Failure to thrive in infancy, Anteri... OMIM:216340

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 Samd4

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 Samd4.

No publications found that use IMPC mice or data for Samd4.

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MGI Allele Allele Type Produced
Samd4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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