Gene: Slc6a8 MGI:2147834

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 6 (neurotransmitter transporter, creatine), member 8

Synonyms:

Creat, CRT

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 Slc6a8 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.

Human diseases associated with Slc6a8 (2 diseases)
Human diseases predicted to be associated with Slc6a8 (717 diseases)

The table below shows human diseases associated to Slc6a8 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
X-Linked Creatine Transporter Deficiency		Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis	ORPHA:52503
Cerebral Creatine Deficiency Syndrome 1		Attention deficit hyperactivity disorder, Gait disturbance, Broad-based gait, Failure to thrive	OMIM:300352

The table below shows human diseases predicted to be associated to Slc6a8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nemaline Myopathy 7	Lumbar hyperlordosis, Shoulder girdle muscle weakness, Minicore myopathy, Neck muscle weakness, G...	OMIM:610687
Congenital Myopathy 23	Facial diplegia, Neck muscle weakness, Gowers sign, Hypotonia, Type 1 muscle fiber predominance, ...	OMIM:609285
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, Generalized hypoto...	ORPHA:370980
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Scoliosis, Gowers sign, Hypotonia, Weakness of facial musculature, Gen...	OMIM:618484
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Spasticity, Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower l...	OMIM:616668
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Hypotonia, Respiratory insufficiency due to muscle weakness, Elevated circulating creatine kinase...	OMIM:607855
Bethlem Myopathy 2	Scoliosis, Myopathy, Hypotonia, Generalized hypotonia, Kyphosis, Elevated circulating creatine ki...	OMIM:616471
Myopathic Ehlers-Danlos Syndrome	Scoliosis, Shoulder flexion contracture, Foot joint contracture, Congenital finger flexion contra...	ORPHA:536516
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Pain, Lower limb amyotrophy, Progressive spastic paraplegia, Knee flexion contracture, Abnormal c...	ORPHA:496689
Infantile-Onset X-Linked Spinal Muscular Atrophy	Infantile muscular hypotonia, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cognit...	ORPHA:1145
Neuronopathy, Distal Hereditary Motor, Type Viii	Distal lower limb amyotrophy, Scoliosis, Nonprogressive muscular atrophy, Spinal muscular atrophy...	OMIM:600175
Spastic Paraplegia 18, Autosomal Recessive	Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy, Kyphosis, Spastic paraplegia, Upp...	OMIM:611225
Central Core Disease	Myopathy, Hypotonia, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Abn...	ORPHA:597
Intellectual Developmental Disorder, X-Linked 19	Hypotonia, Small for gestational age, Scoliosis, Kyphoscoliosis	OMIM:300844
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Proximal muscle weakness, Distal muscle weakness, Upper limb muscle weakness, ...	OMIM:605588
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Poor head control, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen...	ORPHA:300179
Hyperlysinemia, Type I	Cognitive impairment, Hyperactivity, Hyperlysinuria	OMIM:238700
King-Denborough Syndrome	Exercise-induced myalgia, Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Minicore myopathy, ...	OMIM:619542
Charcot-Marie-Tooth Disease Type 1A	Diaphragmatic weakness, Shoulder pain, Skeletal muscle atrophy, Distal muscle weakness, Calf musc...	ORPHA:101081
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness,...	ORPHA:171706
Ataxia-Oculomotor Apraxia Type 4	Distal lower limb muscle weakness, Cognitive impairment, Muscular dystrophy, Kyphoscoliosis, Prog...	ORPHA:459033
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Hypotonia, Elevated circulating al...	OMIM:614727
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Short neck, Respiratory insuf...	OMIM:300718
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Poor head control, Myopathy, Hypotonia, Kyphosis, Spinal rigidity, Severe muscular hyp...	OMIM:618323
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Bulbar palsy, Lower limb amyotrophy, Scoliosis, Proximal muscle weakness in lower limbs, Spinal m...	OMIM:615290
Brown-Vialetto-Van Laere Syndrome 2	Bulbar palsy, Scoliosis, Neck muscle weakness, Hypotonia, Generalized hypotonia, Facial palsy, Ge...	OMIM:614707
Spinal Muscular Atrophy, Ryukyuan Type	Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy	OMIM:271200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Distal amyotrophy, Generalized hypotonia, Kyphoscoliosis	OMIM:619099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Muscl...	OMIM:606612
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Spasticity, Spastic tetraplegia, Hypotonia, Spastic paraplegia, Axial hypotonia, Kyphoscoliosis, ...	OMIM:617977
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Scoliosis, Proximal amyotrophy, Gowers sign, Hypotonia, Kyphosis, Elevated circulating creatine k...	OMIM:617404
Allan-Herndon-Dudley Syndrome	Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Poor head ...	ORPHA:59
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Roussy-Lévy Syndrome	Scoliosis, Intrinsic hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Skeletal...	ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Lower limb amyotrophy, Scoliosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Pro...	OMIM:617087
Glycogen Storage Disease Ixd	Exercise-induced myalgia, Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy,...	OMIM:300559
Congenital Myopathy 13	Scoliosis, Gowers sign, Hypotonia, Skeletal muscle atrophy, Fatty replacement of skeletal muscle,...	OMIM:255995
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine succinate level, Ataxia, Progressive neurologic deterioration, Increased urine al...	OMIM:618384
Maternal Uniparental Disomy Of Chromosome 9	Short neck, Hamstring contractures, Kyphoscoliosis, Failure to thrive, Abnormal vertebral morphology	ORPHA:96183
Charcot-Marie-Tooth Disease Type 4D	Lower limb amyotrophy, Distal lower limb muscle weakness, Proximal muscle weakness, Distal muscle...	ORPHA:99950
Intellectual Developmental Disorder, Autosomal Dominant 33	Decreased body weight, Hyperactivity	OMIM:616311
Congenital Muscular Dystrophy, Ullrich Type	Diaphragmatic weakness, Scoliosis, Torticollis, Short neck, Generalized hypotonia, Knee flexion c...	ORPHA:75840
Saccharopinuria	Distal sensory impairment, Hyperlysinuria, Cognitive impairment, Mental deterioration, Citrullinu...	ORPHA:3124
Juvenile Huntington Disease	Progressive cerebellar ataxia, Ataxia, Hyperactivity, Dementia, Chorea, Bradykinesia, Gait ataxia...	ORPHA:248111
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness	OMIM:607831
Diastrophic Dysplasia	Small for gestational age, Scoliosis, Lumbar hyperlordosis, Cervical kyphosis, Hip contracture, H...	OMIM:222600
Ck Syndrome	Slender build, Lumbar hyperlordosis, Generalized hypotonia, Abnormal circulating cholesterol conc...	ORPHA:251383
Hartnup Disorder	Episodic ataxia, Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:234500
Hypertrophic Neuropathy Of Dejerine-Sottas	Scoliosis, Distal lower limb muscle weakness, Distal amyotrophy, Hypotonia, Proximal muscle weakn...	OMIM:145900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Progressive neurologic deterioration, Cachexia, Failure to thrive, Gait ataxia, Proximal tubulopa...	OMIM:612075
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Scoliosis, Intrinsic hand muscle atrophy, Hypotonia, Triceps weakness, Night sweats, First dorsal...	OMIM:619574
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness, Kyphoscoliosis, Limb muscle...	OMIM:118220
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Camptodactyly, Arthrogryposis multiplex congenita, Hypotonia, Progress...	OMIM:214150
Ullrich Congenital Muscular Dystrophy 2	Neonatal hypotonia, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle ...	OMIM:616470
Myopathy, Centronuclear, 2	Scoliosis, Axial muscle weakness, Gowers sign, Respiratory insufficiency due to muscle weakness, ...	OMIM:255200
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Lower limb muscle weakness, Hypoto...	OMIM:617950
Roussy-Levy Hereditary Areflexic Dystasia	Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis	OMIM:180800
Leukodystrophy, Hypomyelinating, 3	Lower limb amyotrophy, Failure to thrive, Appendicular spasticity, Joint contracture, Axial hypot...	OMIM:260600
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria	OMIM:239500
Foxg1 Syndrome	Spasticity, Scoliosis, Decreased body weight, Hypotonia, Cognitive impairment, Kyphoscoliosis, Dy...	ORPHA:561854
Spondyloepiphyseal Dysplasia, Stanescu Type	Vertebral wedging, Platyspondyly, Beaking of vertebral bodies, Arthralgia, Kyphoscoliosis	OMIM:616583
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness, Kyphoscoliosis, Limb muscle...	OMIM:118200
Scheuermann Disease	Morbus Scheuermann, Kyphosis	OMIM:181440
Sandhoff Disease	Motor deterioration, Kyphosis, Failure to thrive, Muscle weakness, Progressive psychomotor deteri...	ORPHA:796
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cognitive impairment, Kyphoscoliosis	OMIM:600384
Rhizomelic Chondrodysplasia Punctata, Type 1	Spasticity, Elevated circulating phytanic acid concentration, Coronal cleft vertebrae, Severe fai...	OMIM:215100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Scoliosis, Absent muscle fiber emerin, Elevated circulating creatine kinase concentration, Spinal...	ORPHA:98855
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Hyperekplexia 4	Camptodactyly, Distal arthrogryposis, Flexion contracture, Hypertonia, Kyphoscoliosis	OMIM:618011
Charcot-Marie-Tooth Disease, Type 4B2	Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Foot dorsiflexor weakness	OMIM:604563
X-Linked Emery-Dreifuss Muscular Dystrophy	Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Elevated...	ORPHA:98863
Horizontal Gaze Palsy With Progressive Scoliosis	Cognitive impairment, Scoliosis, Kyphosis, Short neck	ORPHA:2744
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Atlantoaxial abnormality, Kyphoscoliosis	ORPHA:3433
Brachyolmia Type 1, Toledo Type	Irregular vertebral endplates, Short neck, Squared-off platyspondyly, Back pain, Intervertebral s...	OMIM:271630
Ullrich Congenital Muscular Dystrophy 1	Scoliosis, Torticollis, Slender build, Reduced muscle collagen VI, Type 1 muscle fiber predominan...	OMIM:254090
Congenital Fiber-Type Disproportion Myopathy	Scoliosis, Poor head control, Respiratory insufficiency due to muscle weakness, Intercostal muscl...	ORPHA:2020
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypotonia, Hypoglycemia, Sudden death	OMIM:609016
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced myalgia, Hyperammonemia, Distal arthrogryposis, Myopathy, Fatigable weakness of ...	ORPHA:42
Autosomal Dominant Brachyolmia	Increased vertebral height, Kyphoscoliosis, Platyspondyly	ORPHA:93304
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Scoliosis, Butterfly vertebrae, Short neck, Thoracic kyphoscoliosis, B...	OMIM:613330
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Lower limb pain, Neck pain, Cervical spondylosis, Cognitive impairment, Dementia, Rig...	ORPHA:199354
Emery-Dreifuss Muscular Dystrophy	Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Elevated...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Elevated...	ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Kyphosis, Elevated ci...	OMIM:618138
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Small for gestational age, Scoliosis, Decreased body weight, Short neck, Diabetes mellitus, Dista...	ORPHA:391408
Hyperinsulinism Due To Insr Deficiency	Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, F...	ORPHA:263458
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity, Ataxia	OMIM:615924
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Appendicular hypotonia, Axial hypotonia, Facial myokymia	OMIM:620007
Parastremmatic Dwarfism	Flexion contracture, Scoliosis, Kyphosis, Short neck	OMIM:168400
Uruguay Faciocardiomusculoskeletal Syndrome	Camptodactyly of toe, Scoliosis, Camptodactyly, Elevated circulating aspartate aminotransferase c...	OMIM:300280
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Kyphoscoliosis, Dystonia	OMIM:616684
Glycogen Storage Disease Vi	Failure to thrive in infancy, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperlipidemia...	OMIM:232700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Spasticity, Small for gestational age, Increased vertebral height, Recurrent hypoglycemia, Kyphos...	OMIM:616817
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Lumbar hyperlordosis, Myopathy, Diabetes mellitus, Lowe...	OMIM:615980
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Dystonia, Hypotonia, Generalized hypotonia, Kyphosis, Lower limb...	OMIM:616756
Typical Nemaline Myopathy	Scoliosis, Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, ...	ORPHA:171436
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Warburg Micro Syndrome 1	Hypotonia, Kyphoscoliosis, Spastic diplegia, Failure to thrive	OMIM:600118
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Spastic tetraplegia, Scoliosis, Short neck, Wrist flexion contracture, Spastic para...	OMIM:300055
Glycine Encephalopathy 1	Hyperactivity, Restlessness, Hyperglycinuria, Lethargy, Impulsivity	OMIM:605899
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Bulbar palsy, Fatigable weakness, Poor head control, Frontalis muscl...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Bulbar palsy, Fatigable weakness, Poor head control, Frontalis muscl...	ORPHA:98914
Scapuloperoneal Spinal Muscular Atrophy	Diaphragmatic weakness, Scoliosis, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, ...	OMIM:181405
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Kyphoscoliosis, Thoracolumbar kyphosis	OMIM:236660
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Infantile muscular hypotonia, Lumbar hyperlordosis, Thoracic kyphosis, Thoracolumbar scoliosis, D...	ORPHA:3041
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Myopathy, Generalized hypotonia, Kyphosis, Failure to thrive, Flexion contra...	OMIM:618237
Schwartz-Jampel Syndrome, Type 1	Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Flexion contracture of toe,...	OMIM:255800
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Small for gestational age, Hyperactivity	ORPHA:85288
Combined Malonic And Methylmalonic Acidemia	Dystonia, Methylmalonic acidemia, Elevated hepatic transaminase, Memory impairment, Failure to th...	ORPHA:289504
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Scoliosis, Irregular vertebral endplates, Coronal cleft vertebrae, Truncal obesity, Hip contractu...	OMIM:618363
Spastic Paraplegia 20, Autosomal Recessive	Camptodactyly, Lower limb muscle weakness, Distal amyotrophy, Spastic paraplegia, Upper limb spas...	OMIM:275900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, L...	OMIM:619048
Myopathy, Myofibrillar, 7	Scoliosis, Bowel incontinence, Elevated circulating creatine kinase concentration, Spinal rigidit...	OMIM:617114
Whistling Face Syndrome, Recessive Form	Camptodactyly, Short neck, Knee flexion contracture, Shoulder flexion contracture, Elbow flexion ...	OMIM:277720
Leukodystrophy, Hypomyelinating, 17	Flexion contracture, Kyphoscoliosis	OMIM:618006
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity	Scoliosis, Kyphoscoliosis, Failure to thrive, Platyspondyly, Beaking of vertebral bodies, Elbow f...	ORPHA:93359
Flynn-Aird Syndrome	Dementia, Kyphoscoliosis	OMIM:136300
Dent Disease 2	Nephrocalcinosis, Chronic kidney disease, Cognitive impairment, Hypercalciuria, Proximal tubulopa...	OMIM:300555
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Hypotonia, Kyphosis, Distal muscle weakness, Foot dorsiflexor weakness, Ophthalmoplegi...	OMIM:618124
Mitochondrial Complex I Deficiency, Nuclear Type 8	Generalized hypotonia, Kyphoscoliosis, Dystonia, Axial dystonia	OMIM:618230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Infantile muscular hypotonia, Poor head control, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Parkinson-Dementia Syndrome	Ophthalmoparesis, Dementia, Kyphoscoliosis, Rigidity	OMIM:260540
Marinesco-Sjogren Syndrome	Spasticity, Scoliosis, Progressive muscle weakness, Myopathy, Hypotonia, Skeletal muscle atrophy,...	OMIM:248800
Primary Dystonia, Dyt4 Type	Torticollis, Eunuchoid habitus, Blepharospasm, Generalized dystonia, Dementia, Laryngeal dystonia...	ORPHA:98805
Cystinuria	Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri...	OMIM:220100
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Lumbar scoliosis, Kyphoscoliosis, Platyspondyly, Irregular vertebral endplates	OMIM:612847
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Falls	ORPHA:2382
Richieri Costa-Da Silva Syndrome	Diastasis recti, Short neck, Distal lower limb muscle weakness, Decreased muscle mass, Vertebral ...	ORPHA:3101
Spondylocostal Dysostosis 1, Autosomal Recessive	Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert...	OMIM:277300
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity	OMIM:617113
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Lower limb muscle weakness, Urinary incontinence, Dementia, Kyphosis, Mental deteriora...	OMIM:614409
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Charcot-Marie-Tooth Disease, Type 4A	Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis	OMIM:214400
Myasthenic Syndrome, Congenital, 20, Presynaptic	Bulbar palsy, Scoliosis, Neck muscle weakness, Hypotonia, Skeletal muscle atrophy, Kyphosis, Opht...	OMIM:617143
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Motor deterioration, Skeletal muscle atrophy, Kyphoscoliosis, Limb joint contracture	OMIM:612079
X-Linked Charcot-Marie-Tooth Disease Type 4	Distal muscle weakness, Scoliosis, Kyphosis, Skeletal muscle atrophy	ORPHA:101078
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Knee flexion contracture, Kyphosis, Elevated circulating creatine k...	OMIM:619040
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Decreased body weight, Abnormality of the vertebral column, Flexion cont...	OMIM:610758
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Vertebral wedging, Kyphoscoliosis, Firm muscles	OMIM:255710
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio...	OMIM:240900
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Facial diplegia, Short neck, Respiratory insufficiency due to muscle weakness, General...	OMIM:611890
Gm1-Gangliosidosis, Type Iii	Scoliosis, Skeletal muscle atrophy, Kyphosis, Platyspondyly, Decreased beta-galactosidase activit...	OMIM:230650
Metatropic Dysplasia	Long coccyx, Flexion contracture, Scoliosis, Relatively short spine, Anisospondyly, Kyphosis, Pla...	OMIM:156530
Dysspondyloenchondromatosis	Scoliosis, Anisospondyly, Platyspondyly, Vertebral segmentation defect, Kyphoscoliosis	ORPHA:85198
3-Methylcrotonyl-Coa Carboxylase Deficiency	Spasticity, Hyperammonemia, Hypotonia, Failure to thrive in infancy, Abnormal circulating leucine...	ORPHA:6
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb amyotrophy, Poor head control, Lower limb spasticity, Paroxysmal dystonia, Urinary inc...	ORPHA:466722
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hyperammonemia, Elevated circulating fumarate concentration, Hyperalan...	OMIM:615160
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase ...	OMIM:232400
Developmental And Epileptic Encephalopathy 41	Spasticity, Generalized hypotonia, Axial hypotonia, Flexion contracture, Kyphoscoliosis	OMIM:617105
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Myopathy, Hypotonia, Kyphosis, Generalized limb muscle atrophy	ORPHA:2598
Arthrogryposis, Distal, Type 2A	Small for gestational age, Scoliosis, Camptodactyly, Neck joint contracture, Short neck, Flexion ...	OMIM:193700
Spinocerebellar Ataxia, Autosomal Recessive 20	Spasticity, Macroglossia, Camptodactyly, Scoliosis, Hypotonia, Kyphoscoliosis	OMIM:616354
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Hypotonia, Scoliosis, Kyphosis, Obesity	ORPHA:276630
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis, Camptodactyly of toe, Distal arthrogryp...	OMIM:114300
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Distal amyotrophy, Proximal muscle weakness, Distal muscle weakness, Kyphosc...	OMIM:601455
Flynn-Aird Syndrome	Scoliosis, Skeletal muscle atrophy, Dementia, Cachexia, Kyphosis, Type II diabetes mellitus	ORPHA:2047
Borjeson-Forssman-Lehmann Syndrome	Scoliosis, Hypotonia, Generalized hypotonia, Scheuermann-like vertebral changes, Kyphosis, Cervic...	OMIM:301900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Kyphosis, Elevated ci...	OMIM:607155
Scholte Syndrome	Generalized hypotonia, Kyphoscoliosis	OMIM:300977
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis	ORPHA:101075
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Fatigue, Muscle weakness, Glucose intolerance, Abnormality of iron...	ORPHA:75563
Proteus Syndrome	Spinal canal stenosis, Kyphoscoliosis	OMIM:176920
Acromesomelic Dysplasia, Maroteaux Type	Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype...	ORPHA:40
Osteogenesis Imperfecta, Type Xiii	Scoliosis, Decreased body weight, Hypotonia, Generalized hypotonia, Skeletal muscle atrophy, Plat...	OMIM:614856
Fibrosis Of Extraocular Muscles, Congenital, 3C	Restrictive partial external ophthalmoplegia, Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Myopathy, Hypotonia, Kyphosis, Failure to thrive	OMIM:618234
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Limb dystonia, Kyphosis, Failure to thrive	ORPHA:319199
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Impaired glucose tolerance, Progressive muscle weakness, Hypotonia, Progressive external ophthalm...	OMIM:610131
Rahman Syndrome	Neonatal hypotonia, Camptodactyly, Hypertonia, Kyphoscoliosis	OMIM:617537
Landau-Kleffner Syndrome	Hyperactivity, Steppage gait, Attention deficit hyperactivity disorder, Memory impairment, Gait a...	ORPHA:98818
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Hip pain, Lumbar hyperlordosis, Irregular vertebral endplates, Short neck, Cervical subluxation, ...	OMIM:184100
Brachyolmia Type 1, Hobaek Type	Scoliosis, Short neck, Kyphosis, Squared-off platyspondyly, Back pain, Intervertebral space narro...	OMIM:271530
Mitochondrial Dna Depletion Syndrome 11	Proximal amyotrophy, Progressive external ophthalmoplegia, Exercise intolerance, Kyphosis, Elevat...	OMIM:615084
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia, Generalized aminoaciduria	OMIM:606528
3-Methylglutaconic Aciduria Type 4	Spasticity, Hypotonia, Failure to thrive, Decreased liver function, Hypoglycemia	ORPHA:67048
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Decreased cervical spine mobility, Platyspondyly, Sclerotic vertebral en...	OMIM:208230
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypotonia, Congenital muscular dystrophy, Kyphosis	ORPHA:1875
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Scoliosis, Minicore myopathy, Short neck, Kyphosis, Increased endomysial connective tissue, Flexi...	ORPHA:178148
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Hypotonia, Kyphoscoliosis, Dystonia, Joint contracture	OMIM:617664
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypotonia, Failure to thrive, Kyphoscoliosis, Hypoglycemia, Joint contracture	OMIM:618005
Dystonia, Juvenile-Onset	Small for gestational age, Leg dystonia, Oculogyric crisis, Generalized dystonia, Kyphoscoliosis	OMIM:607371
Coffin-Siris Syndrome 6	Diaphragmatic eventration, Generalized hypotonia, Kyphoscoliosis	OMIM:617808
Carnitine Palmitoyl Transferase 1A Deficiency	Hypotonia, Transient hyperlipidemia, Elevated hepatic transaminase, Fatigue, Skeletal muscle atro...	ORPHA:156
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Small for gestational age, Hyperactivity, Failure to thrive	OMIM:609425
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Hypermethioninemia, Homocystinuria, Failure to thrive, Hyperhomocystinemia, Biconcave ...	OMIM:236200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria	OMIM:618090
Mevalonic Aciduria	Hypotonia, Failure to thrive in infancy, Generalized hypotonia, Elevated hepatic transaminase, In...	OMIM:610377
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu...	OMIM:308990
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Kyphoscoliosis, Lower limb spasticity, Obesity	ORPHA:3077
Spondyloepiphyseal Dysplasia Tarda	Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Decreased cervical spine mobility, Short neck...	ORPHA:93284
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Scoliosis, Kyphosis, Abnormality of the cervical spine, Acute rhabdomyol...	ORPHA:48431
2P21 Microdeletion Syndrome	Hypotonia, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia	ORPHA:163693
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Acute rhabdomyolysis, Cognitive impairment, Kyphoscoliosis	OMIM:604168
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Kyphosis	OMIM:618453
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Bone pain, Fatigue, Gangrene, Arthralgia, Kyphoscoliosis	ORPHA:53721
Combined Oxidative Phosphorylation Deficiency 47	Short neck, Generalized hypotonia, Elevated hepatic transaminase, Failure to thrive, Platyspondyl...	OMIM:618958
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Episodic Ataxia Type 1	Calf muscle hypertrophy, Hypertonia, Scoliosis, Kyphoscoliosis	ORPHA:37612
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Decreased body weight, Kyphosis	OMIM:618392
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Dementia, Focal dystonia, Rigidity, Ophthalmoparesis, Mental deterioration, Extrap...	ORPHA:99750
Cdkl5-Deficiency Disorder	Scoliosis, Poor head control, Kyphosis, Abnormal muscle tone	ORPHA:505652
Glycogen Storage Disease Ixa1	Hyperuricemia, Hypotonia, Elevated hepatic transaminase, Fatigue, Hypertriglyceridemia, Hyperchol...	OMIM:306000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Hypotonia, Skeletal muscle atrophy, Kyphoscoliosis	ORPHA:75496
Pyruvate Dehydrogenase E3 Deficiency	Spasticity, Hyperammonemia, Generalized hypotonia, Elevated hepatic transaminase, Elevated circul...	ORPHA:2394
Spastic Paraplegia 53, Autosomal Recessive	Upper limb hypertonia, Cognitive impairment, Kyphosis, Lower limb hypertonia, Spastic paraplegia,...	OMIM:614898
13Q12.3 Microdeletion Syndrome	Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Kyphoscoliosis, Obesity	ORPHA:412035
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hypotonia, Elevated circulating al...	OMIM:619386
Glycogen Storage Disease Ixb	Hyperuricemia, Hypotonia, Increased muscle glycogen content, Muscle weakness, Hypoglycemia	OMIM:261750
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Small for gestational age, Hyperammonemia, Elevated circulating aspartate aminotr...	OMIM:609015
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis	OMIM:615541
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Myopathy, Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Progr...	ORPHA:352447
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Irregular vertebral endplates, Platyspondyly, Thenar muscle atrophy, Kyp...	OMIM:612350
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Scoliosis, Abnormality of the musculature of the lower limbs, Lower limb spasticity, ...	ORPHA:464282
Fetal Akinesia Deformation Sequence 4	Camptodactyly, Short neck, Skeletal muscle atrophy, Kyphosis, Arthrogryposis multiplex congenita	OMIM:618393
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hyperammonemia, Myopathy, Generalized hypotonia, Nonketotic hypoglycemia, ...	ORPHA:99901
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Spastic tetraplegia, Kyphoscoliosis	OMIM:300886
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Kyphoscoliosis	OMIM:610756
Autosomal Recessive Spastic Paraplegia Type 9B	Spasticity, Skeletal muscle atrophy, Muscle weakness, Impaired continence, Spastic gait, Kyphosco...	ORPHA:447760
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Small for gestational age, Scoliosis, Joint contracture of the 5th finger, Generalize...	ORPHA:352490
Baralle-Macken Syndrome	Spasticity, Urinary incontinence, Kyphosis, Neonatal hypotonia, Dystonia, Obesity	OMIM:619255
Cog8-Cdg	Infantile muscular hypotonia, Poor head control, Skeletal muscle atrophy, Elevated hepatic transa...	ORPHA:95428
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Muscle weakness, Scoliosis, Progressive neurologic deterioration, Kyphosis	ORPHA:85317
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Truncal obesity, Scoliosis, Kyphosis	ORPHA:2429
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperammonemia, Propionyl-CoA carboxylase deficiency, Hypotonia, Acute hyperammonemia, Generalize...	OMIM:210210
Multiple Acyl-Coa Dehydrogenase Deficiency	Rhabdomyolysis, Poor head control, Hyperammonemia, Fatigable weakness of neck muscles, Hypotonia,...	ORPHA:26791
X-Linked Adrenoleukodystrophy	Increased circulating ACTH level, Gait disturbance, Hyperactivity, Somatic sensory dysfunction, D...	ORPHA:43
X-Linked Charcot-Marie-Tooth Disease Type 5	Muscle weakness, Scoliosis, Skeletal muscle hypertrophy, Kyphosis	ORPHA:99014
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Torticollis, Blepharospasm, Hypotonia, Generalized hypotonia, Generalized dystonia, Ky...	OMIM:128100
Galactokinase Deficiency	Small for gestational age, Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsul...	ORPHA:79237
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Limb-girdle muscle weakness, Rhabdomyolysis, Hypercholesterolemia, Progress...	ORPHA:79240
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Axial hypotonia, Kyphoscoliosis	OMIM:618339
Dicarboxylic Aminoaciduria	Aspartic aciduria, Nephrolithiasis, Aminoaciduria	OMIM:222730
Ck Syndrome	Scoliosis, Slender build, Generalized hypotonia, Kyphosis, Hyperlordosis	OMIM:300831
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Crouch gait, Hyperactivity, Failure to thrive	OMIM:620145
Brown-Vialetto-Van Laere Syndrome 1	Diaphragmatic weakness, Bulbar palsy, Scoliosis, Neck muscle weakness, Hypotonia, Skeletal muscle...	OMIM:211530
Sialidosis Type 2	Generalized hypotonia, Skeletal muscle atrophy, Kyphosis, Muscle weakness, Flexion contracture	ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Scoliosis, Generalized hypotonia, Kyphosis, Arthrogryposis multiplex c...	OMIM:615834
Wieacker-Wolff Syndrome	Spasticity, Camptodactyly, Scoliosis, Congenital foot contractures, Short neck, Distal amyotrophy...	OMIM:314580
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Spasticity, Jaundice, Small for gestational age, Hyperammonemia, Elevated circulating aspartate a...	OMIM:617093
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Cognitive impairment, Hyperinsulinemia, Gait ataxia, Progressive psychomot...	ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 35	Scoliosis, Hypotonia, Generalized hypotonia, Fatigue, Congenital muscular torticollis, Facial hyp...	OMIM:616355
Combined Oxidative Phosphorylation Deficiency 37	Spasticity, Poor head control, Hypotonia, Hyperalaninemia, Generalized hypotonia, Elevated hepati...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Hepatic failure, Hypoglycemia, Elevated circula...	OMIM:617872
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Hyperammonemia, Exercise intolerance, Elevated circulating creatine kinase concen...	OMIM:618120
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Scoliosis, Kyphosis, Platyspondyly, Elbow flexion contracture, Kyphosc...	ORPHA:93360
Cln5 Disease	Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Dysdiadochokinesis, Mental deterioration...	ORPHA:228360
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis, Obesity	ORPHA:3085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Diabetes mellitus, Elevated circulating alanine aminotransferase concentration, Elevat...	OMIM:615381
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Generalized hypotonia, Kyphosis	OMIM:618512
Masa Syndrome	Spastic paraplegia, Kyphosis, Lower limb spasticity, Hyperlordosis	OMIM:303350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hypotonia, Cognitive impairment, Hyperlipidemia, Hypoglycemia	ORPHA:364
Charcot-Marie-Tooth Disease Type 4B2	Scoliosis, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Hand muscl...	ORPHA:99956
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Butterfly vertebrae, Short neck, Left ventricular hypertrophy, Hypotonia, Failure ...	OMIM:611209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Fasting hypoglycemia, Increased sarcoplasmic glycogen, Hypercholesterolemia, Progressive muscle w...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Bulbar palsy, Neonatal hypoglycemia, Spastic tetraplegia, Scoliosis, Small for gestational age, P...	OMIM:619055
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Hypoplastic cervical vertebrae, Flexion contracture, Abnormally ossified v...	ORPHA:35173
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Scoliosis, Slender build, Flexion contracture, Congenital contracture, C...	ORPHA:115
Monosomy 18P	Hypotonia, Kyphoscoliosis, Generalized dystonia, Short neck	ORPHA:1598
Joint Laxity, Short Stature, And Myopia	Cervical kyphosis, Kyphoscoliosis	OMIM:617662
Acrootoocular Syndrome	Small for gestational age, Small thenar eminence, Small hypothenar eminence, Failure to thrive, A...	ORPHA:2980
Warburg Micro Syndrome 3	Spastic tetraplegia, Decreased muscle mass, Axial hypotonia, Flexion contracture, Kyphoscoliosis,...	OMIM:614222
Contractural Arachnodactyly, Congenital	Camptodactyly, Scoliosis, Distal arthrogryposis, Short neck, Wrist flexion contracture, Knee flex...	OMIM:121050
Guanidinoacetate Methyltransferase Deficiency	Chorea, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Attention deficit hyperactivity disorder, Hyperactivity, Memory impairment	OMIM:619827
Spinocerebellar Ataxia, Autosomal Recessive 31	Lumbar kyphoscoliosis, External ophthalmoplegia, Muscle weakness, Axial hypotonia, Dystonia	OMIM:619422
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Scoliosis, Short neck, Kyphosis, Type II diabetes melli...	ORPHA:3191
Chst3-Related Skeletal Dysplasia	Scoliosis, Arthralgia, Flexion contracture, Intervertebral space narrowing, Kyphoscoliosis, Abnor...	ORPHA:263463
Emanuel Syndrome	Scoliosis, Generalized hypotonia, Sacral dimple, Failure to thrive, Congenital diaphragmatic hern...	ORPHA:96170
Zimmermann-Laband Syndrome 3	Flexion contracture, Generalized hypotonia, Kyphosis	OMIM:618658
Seckel Syndrome 8	Kyphoscoliosis	OMIM:615807
Osteogenesis Imperfecta, Type Xi	Scoliosis, Vertebral wedging, Vertebral compression fracture, Elevated circulating alkaline phosp...	OMIM:610968
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Crisponi/Cold-Induced Sweating Syndrome 1	Camptodactyly, Short neck, Facial palsy, Opisthotonus, Elbow flexion contracture, Kyphoscoliosis	OMIM:272430
Paternal Uniparental Disomy Of Chromosome 5	Generalized hypotonia, Kyphoscoliosis	ORPHA:96190
Kleefstra Syndrome 2	Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia	OMIM:617768
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cervical spine instability, Hypotonia, Kyphoscoliosis, Platyspondyly, Decreased body weight, Join...	OMIM:615349
Autosomal Recessive Spastic Paraplegia Type 23	Spastic gait, Spastic paraplegia, Bowel incontinence, Kyphoscoliosis	ORPHA:101003
Mucolipidosis Iii Gamma	Scoliosis, Increased serum beta-hexosaminidase, Short neck, Kyphosis, Arthralgia, Increased iduro...	OMIM:252605
Alpha-Mannosidosis	Macroglossia, Scoliosis, Short neck, Hypotonia, Kyphosis, Type II diabetes mellitus	ORPHA:61
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thoracic kyphosis, Short neck, Skeletal muscle atrophy, Platyspondyly, Hypoplasia of the odontoid...	OMIM:300232
Osteogenesis Imperfecta, Type Xvii	Decreased muscle mass, Hypotonia, Vertebral compression fracture, Platyspondyly, Muscle weakness,...	OMIM:616507
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Scoliosis, Kyphosis, Congenital foot contractures	ORPHA:3454
Crisponi Syndrome	Camptodactyly of finger, Scoliosis, Cognitive impairment, Kyphosis, Sudden cardiac death, Flexion...	ORPHA:1545
Spondylometaphyseal Dysplasia, Kozlowski Type	Scoliosis, Short neck, Platyspondyly, Hypoplasia of the odontoid process, Elbow flexion contractu...	OMIM:184252
Joubert Syndrome 18	Camptodactyly, Kyphoscoliosis	OMIM:614815
Ane Syndrome	Generalized amyotrophy, Motor deterioration, Kyphoscoliosis, Multiple joint contractures	ORPHA:157954
Larsen-Like Syndrome	Hypotonia, Generalized hypotonia, Kyphoscoliosis	OMIM:608545
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity	ORPHA:411515
Carpenter Syndrome	Kyphoscoliosis, Obesity	ORPHA:65759
Zimmermann-Laband Syndrome 2	Macroglossia, Short neck, Hypotonia, Generalized hypotonia, Kyphosis	OMIM:616455
Spondylocostal Dysostosis 3, Autosomal Recessive	Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in...	OMIM:609813
Winchester Syndrome	Kyphosis	OMIM:277950
Triosephosphate Isomerase Deficiency	Spasticity, Jaundice, Progressive muscle weakness, Myopathy, Hypotonia, Respiratory insufficiency...	OMIM:615512
Abetalipoproteinemia	Distal lower limb muscle weakness, Myopathy, Decreased LDL cholesterol concentration, Elevated he...	ORPHA:14
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia, Scoliosis, Kyphosis	ORPHA:2471
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Hypotonia, Generalized hypotonia, Kyphosis, Contracture of the proximal interphalangea...	OMIM:130060
Chondrodysplasia Punctata 2, X-Linked Dominant	Scoliosis, Elevated 8(9)-cholestenol, Short neck, Failure to thrive, Hemivertebrae, Elevated 8-de...	OMIM:302960
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Hyperactivity, Chorea, Dysphagia, Gait ataxia, Impuls...	ORPHA:500180
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Spasticity, Macroglossia, Camptodactyly, Hypotonia, Neuropathic spinal arthropathy, Kyphoscoliosis	ORPHA:397709
D-Glyceric Aciduria	Spasticity, Spastic tetraplegia, Hypotonia, Nonketotic hyperglycinemia, Failure to thrive, Neonat...	OMIM:220120
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Neonatal hypoglycemia, Hyperammonemia, Hypotonia, Generalized hypotonia, Elevated...	OMIM:212138
Kagami-Ogata Syndrome	Diastasis recti, Hypotonia, Generalized hypotonia, Flexion contracture, Kyphoscoliosis	OMIM:608149
Arthrogryposis And Ectodermal Dysplasia	Camptodactyly, Diabetes mellitus, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Ky...	OMIM:601701
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypotonia, Scoliosis, Slender build, Kyphosis	OMIM:300676
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Skeletal muscle atrophy, Kyphosis, Vertebral compression fracture, Hy...	OMIM:219090
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Poor head control, Myopathy, Hypotonia, Type 1 muscle fiber predominance, Skeletal muscle atrophy...	OMIM:614557
Sialidosis Type 1	Scoliosis, Hypotonia, Skeletal muscle atrophy, Kyphosis, Muscle weakness, Aminoaciduria, Abnormal...	ORPHA:812
Arthrogryposis, Distal, Type 5	Scoliosis, Distal arthrogryposis, Decreased muscle mass, Exercise intolerance, Kyphosis, Firm mus...	OMIM:108145
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Platyspondyly, Hip contracture	OMIM:313420
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypotonia, Scoliosis, Kyphosis	ORPHA:1548
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, ...	OMIM:618291
Hall-Riggs Mental Retardation Syndrome	Scoliosis, Irregular vertebral endplates, Kyphosis, Failure to thrive, Platyspondyly	OMIM:234250
Autosomal Recessive Ataxia, Beauce Type	Spasticity, Scoliosis, Lower limb muscle weakness, Urinary incontinence, Skeletal muscle atrophy,...	ORPHA:88644
Musculocontractural Ehlers-Danlos Syndrome	Scoliosis, Myopathy, Decreased muscle mass, Muscle weakness, Cervical kyphosis, Abnormality of th...	ORPHA:2953
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dysdiadochokinesis, Dysphagia, Mental deterioration, Bradykinesia, Gait ataxia, Ch...	OMIM:610217
Loeys-Dietz Syndrome 5	Cervical spine instability, Decreased muscle mass, Hypotonia, Failure to thrive in infancy, Flexi...	OMIM:615582
Gm1 Gangliosidosis	Spasticity, Macroglossia, Camptodactyly of finger, Scoliosis, Aplasia/Hypoplasia of the abdominal...	ORPHA:354
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia, Large for gestational age, Lumbar hyperlordosis, Slender build, Hypotonia,...	ORPHA:457359
Wieacker-Wolff Syndrome, Female-Restricted	Spasticity, Scoliosis, Short neck, Weakness of facial musculature, Urinary incontinence, Generali...	OMIM:301041
Glutaric Acidemia I	Hypotonia, Generalized hypotonia, Spastic diplegia, Rigidity, Failure to thrive, Elevated circula...	OMIM:231670
Mucopolysaccharidosis, Type Iiic	Motor deterioration, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar vertebrae	OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Macroglossia, Hypotonia, Generalized hypotonia, Kyphosis, Abdominal...	OMIM:300354
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hypotonia, Kyphoscoliosis	OMIM:620075
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Congenital fibrosis of extraocular muscles, Spastic tetraplegia, Torticollis, Spastic...	ORPHA:300570
Rett Syndrome	Spasticity, Scoliosis, Motor deterioration, Skeletal muscle atrophy, Cachexia, Kyphosis, Dystonia	OMIM:312750
Chromosome 2P16.1-P15 Deletion Syndrome	Spasticity, Camptodactyly, Hypotonia, Kyphoscoliosis, Joint contracture of the hand	OMIM:612513
Tatton-Brown-Rahman Syndrome	Infantile muscular hypotonia, Kyphoscoliosis, Obesity	ORPHA:404443
Sjögren-Larsson Syndrome	Spasticity, Scoliosis, Hypotonia, Spastic diplegia, Kyphosis	ORPHA:816
Paget Disease Of Bone 5, Juvenile-Onset	Hyperuricemia, Hydroxyprolinemia, Hypotonia, Hyperphosphatemia, Kyphosis, Failure to thrive, Musc...	OMIM:239000
Lopes-Maciel-Rodan Syndrome	Spasticity, Scoliosis, Kyphosis, Axial hypotonia, Hypertonia, Dystonia	OMIM:617435
Alg1-Cdg	Scoliosis, Hypotonia, Kyphosis, Decreased liver function, Hypoalbuminemia	ORPHA:79327
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Glycosuria, Diabetes mellitus, Hypouricemia, Elevated hepatic transaminase, Ele...	OMIM:616026
Infantile Neuroaxonal Dystrophy	Gait disturbance, Hyperactivity, Psychomotor deterioration, Ataxia, Unsteady gait, Mental deterio...	ORPHA:35069
Pelizaeus-Merzbacher Disease	Spasticity, Scoliosis, Bowel incontinence, Hypotonia, Failure to thrive in infancy, Kyphosis, Cac...	ORPHA:702
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy...	OMIM:262190
Schaaf-Yang Syndrome	Camptodactyly, Scoliosis, Arthrogryposis multiplex congenita, Failure to thrive in infancy, Kypho...	OMIM:615547
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Scoliosis, Short neck, Decreased muscle mass, Hypotonia, Generalized hypotonia, Vertebral compres...	OMIM:309583
Atypical Rett Syndrome	Spasticity, Scoliosis, Abnormal muscle tone, Hypotonia, Kyphosis, Neonatal hypotonia, Total ophth...	ORPHA:3095
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Scoliosis, Kyphoscoliosis	ORPHA:391307
Cardiac-Valvular Ehlers-Danlos Syndrome	Left ventricular hypertrophy, Thoracolumbar scoliosis, Fatigue, Tendon rupture, Kyphoscoliosis	ORPHA:230851
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Scoliosis, Slender build, Kyphosis, Distal muscle weakness, Axial hypotonia, Facial h...	ORPHA:364028
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat...	OMIM:615605
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Macroglossia, Scoliosis, Infantile muscular hypotonia, Hypotonia, Kyphosis, Hemiverte...	OMIM:301040
Pontocerebellar Hypoplasia, Type 10	Spasticity, Limb hypertonia, Short neck, Axial hypotonia, Kyphoscoliosis	OMIM:615803
Cholestasis, Progressive Familial Intrahepatic, 5	Jaundice, Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:617049
Solitary Fibrous Tumor	Low back pain, Recurrent hypoglycemia, Night sweats, Fatigue, Hypophosphatemic rickets, Hypoinsul...	ORPHA:2126
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Spastic tetraplegia, Kyphoscoliosis, Contractures of the large joints	ORPHA:324410
19P13.3 Microduplication Syndrome	Kyphoscoliosis	ORPHA:447980
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Cervical instability, Platyspondyly, Axial hypotonia, Kyphoscoliosis, Thoracolumbar kyphosis	OMIM:617425
Graves Disease, Susceptibility To, 1	Polyphagia, Hyperactivity, Increased circulating free T3, Increased circulating free T4 concentra...	OMIM:275000
Pitt-Hopkins-Like Syndrome 1	Attention deficit hyperactivity disorder, Progressive language deterioration, Hyperactivity, Ataxia	OMIM:610042
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia	OMIM:612716
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypotonia, Sacral dimple, Kyphosis, Hypertriglyceridemia, Thoracic scoliosis, ...	ORPHA:536532
Geroderma Osteodysplasticum	Camptodactyly, Irregular vertebral endplates, Vertebral compression fracture, Platyspondyly, Beak...	OMIM:231070
Congenital Disorder Of Glycosylation, Type It	Rhabdomyolysis, Chronic hepatitis, Elevated circulating aspartate aminotransferase concentration,...	OMIM:614921
Basilar Impression, Primary	Limb muscle weakness, Kyphoscoliosis, Short neck	OMIM:109500
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Hepatic failure, Aminoaciduria	ORPHA:664
Progressive Pseudorheumatoid Arthropathy Of Childhood	Camptodactyly, Scoliosis, Hyperconvex vertebral body endplates, Irregular vertebral endplates, Ve...	ORPHA:1159
X-Linked Cerebral Adrenoleukodystrophy	Inability to walk, Hyperactivity, Gait disturbance, Ataxia, Difficulty walking, Memory impairment...	ORPHA:139396
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypotonia, Generalized hypotonia, Elevated hepatic transaminase, Decreased plasma carnitine, Hypo...	OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypotonia, Generalized hypotonia, Exercise intolerance, Elevated hepatic transaminase, Muscle wea...	OMIM:611126
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Spasticity, Rhabdomyolysis, Hypotonia, Hypertyrosinemia, Generalized hypotonia, Exercise intolera...	OMIM:124000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Scoliosis, Torticollis, Cervical spine instability, Ovoid...	ORPHA:536467
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperammonemia, Progressive neurologic deterioration, Elevated hepatic tra...	OMIM:615453
Mody	Neonatal hypoglycemia, Overweight, Glycosuria, Abnormal oral glucose tolerance, Abnormal circulat...	ORPHA:552
15Q24 Microdeletion Syndrome	Small for gestational age, Scoliosis, Hypotonia, Kyphosis, Failure to thrive, Congenital diaphrag...	ORPHA:94065
Arthrogryposis Multiplex Congenita 5	Camptodactyly, Scoliosis, Arthrogryposis multiplex congenita, Short neck, Generalized hypotonia, ...	OMIM:618947
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Metatropic Dysplasia	Camptodactyly of finger, Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal interverte...	ORPHA:2635
Jaberi-Elahi Syndrome	Scoliosis, Hypotonia, Kyphosis, Failure to thrive, Distal muscle weakness, Muscle weakness, Appen...	OMIM:617988
Kyphoscoliotic Ehlers-Danlos Syndrome	Scoliosis, Myopathy, Hypotonia, Skeletal muscle atrophy, Atlantoaxial instability, Neonatal hypot...	ORPHA:536545
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Monosomy 18Q	Slender build, Failure to thrive, Neonatal hypotonia, Atlantoaxial abnormality, Kyphoscoliosis	ORPHA:1600
Kagami-Ogata Syndrome	Diastasis recti, Poor head control, Short neck, Kyphoscoliosis, Large for gestational age	ORPHA:254519
Distal Deletion 12Q	Short neck, Diabetes mellitus, Failure to thrive in infancy, Generalized hypotonia, Congenital hy...	ORPHA:96149
Spondyloenchondrodysplasia With Immune Dysregulation	Spasticity, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Spastic diplegia, Inc...	OMIM:607944
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,...	ORPHA:2298
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Scoliosis, Generalized dystonia, Kyphosis, Mental deterioration	ORPHA:79107
Spinocerebellar Ataxia, Autosomal Recessive 8	Spasticity, Scoliosis, Kyphosis	OMIM:610743
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Hypercholesterolemia	OMIM:618348
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short neck, Thoracolumbar scoliosis, Generalized hypotonia, Platyspondyly, Thoracic platyspondyly...	ORPHA:457395
Marshall-Smith Syndrome	Scoliosis, Decreased body weight, Thoracic kyphosis, Hypotonia, Kyphosis, Failure to thrive, Thor...	OMIM:602535
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the vertebral column, Scoliosis, Kyphoscoliosis, Platyspondyly	ORPHA:93316
De Barsy Syndrome	Decreased muscle mass, Infantile muscular hypotonia, Kyphoscoliosis, Failure to thrive	ORPHA:2962
Fucosidosis	Spasticity, Spastic tetraplegia, Decreased muscle mass, Hypotonia, Kyphosis, Failure to thrive, A...	ORPHA:349
Schimmelpenning-Feuerstein-Mims Syndrome	Kyphoscoliosis, Hypophosphatemic rickets, Ophthalmoplegia	OMIM:163200
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormality of the odontoid process, Kyphoscoliosis	ORPHA:2976
Alexander Disease	Spasticity, Scoliosis, Bowel incontinence, Short neck, Diabetes mellitus, Hypotonia, Kyphosis, Su...	ORPHA:58
Pelger-Huet Anomaly	Lower limb hypertonia, Kyphosis, Foot dorsiflexor weakness, Failure to thrive	OMIM:169400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypotonia, Acute hyperammonemia, Generalized hypotonia, Failure to thrive, Opisthotonus, Hypoglyc...	OMIM:210200
Hemifacial Atrophy, Progressive	Trigeminal neuralgia, Kyphosis	OMIM:141300
Distal 16P11.2 Microdeletion Syndrome	Neonatal hypotonia, Kyphosis, Hyperuricemia, Obesity	ORPHA:261222
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hypotonia, Scoliosis, Kyphosis	OMIM:619797
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger, Cognitive impairment, Ky...	ORPHA:1883
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Scoliosis, Slender build, Left ventricular noncompaction, Hypotonia, Generalized hypotonia, Kypho...	OMIM:300967
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Distal amyotrophy, Kyphosis, Spastic paraplegia, Flexion contracture	OMIM:609541
Alstrom Syndrome	Scoliosis, Hyperuricemia, Chronic active hepatitis, Truncal obesity, Elevated hepatic transaminas...	OMIM:203800
Shashi-Pena Syndrome	Scoliosis, Limb hypertonia, Hypotonia, Kyphosis, Cervical C2/C3 vertebral fusion, Hypoglycemia	OMIM:617190
Congenital Disorder Of Glycosylation, Type Il	Generalized hypotonia, Kyphosis, Failure to thrive, Short neck	OMIM:608776
Microcephalic Primordial Dwarfism, Montreal Type	Hypertonia, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Bruck Syndrome 1	Scoliosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Hip contracture,...	OMIM:259450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating alpha-fetoprotein concentration, Hypotonia, Elevated hepatic trans...	OMIM:251880
Mucopolysaccharidosis Type 6	Macroglossia, Ovoid vertebral bodies, Short neck, Cognitive impairment, Kyphosis, Failure to thrive	ORPHA:583
Multicentric Osteolysis, Nodulosis, And Arthropathy	Camptodactyly of toe, Wrist flexion contracture, Vertebral compression fracture, Interphalangeal ...	OMIM:259600
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis	OMIM:615761
Spondylodysplastic Ehlers-Danlos Syndrome	Scoliosis, Coronal cleft vertebrae, Hypotonia, Kyphoscoliosis, Platyspondyly, Beaking of vertebra...	ORPHA:536471
Autosomal Recessive Spastic Paraplegia Type 35	Bowel incontinence, Neck muscle weakness, Cognitive impairment, Urinary incontinence, Generalized...	ORPHA:171629
Isolated Complex I Deficiency	Abnormal mitochondria in muscle tissue, Poor head control, Diabetes mellitus, Hypotonia, Failure ...	ORPHA:2609
Mucopolysaccharidosis, Type Vi	Macroglossia, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior wedging of L2, Anterior wedg...	OMIM:253200
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration, Obesity	ORPHA:163681
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Dysphagia, Decreased body weight, Bradyphrenia, Obesity	ORPHA:589821
Diastrophic Dysplasia	Camptodactyly of finger, Scoliosis, Hypotonia, Kyphosis, Hypoplastic cervical vertebrae, Abnormal...	ORPHA:628
Late-Onset Isolated Acth Deficiency	Hypercalcemia, Hyperuricemia, Fatigue, Abdominal pain, Failure to thrive, Hepatitis, Hyperkalemia...	ORPHA:199299
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Decreased body weight, Ovoid vertebral bodies, Irregular vertebral endplates, Short neck, Hypoton...	OMIM:271640
Insulin-Like Growth Factor I Deficiency	Elevated circulating growth hormone concentration, Decreased body weight, Hyperactivity, Decrease...	OMIM:608747
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Hypotonia, Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia	OMIM:613027
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis	ORPHA:52503
Infantile Nephropathic Cystinosis	Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Cognitive impairment,...	ORPHA:411629
Clark-Baraitser syndrome	Scoliosis, Kyphosis, Obesity	OMIM:300602
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Jaundice, Dystonia, Progressive muscle weakness, Elevated circulating aspa...	OMIM:256810
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Sacral dimple, Kyphosis	OMIM:618272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Skeletal muscle atrophy, Kyphosis, Thoracic scoliosis, Axial hypotonia	OMIM:603387
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Bulbar palsy, Hypomimic face, Hypotonia, Cognitive impairment, Kyphosis, Rigidity, Failure to thr...	OMIM:617527
You-Hoover-Fong Syndrome	Spasticity, Hypotonia, Kyphoscoliosis	OMIM:616954
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Flexion contracture of toe, Kyphosis, Obesity	ORPHA:3409
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Scoliosis, Hypotonia, Skeletal muscle atrophy, Abnormal circulating crea...	ORPHA:2215
Acth-Independent Macronodular Adrenal Hyperplasia	Mental deterioration, Truncal obesity, Skeletal muscle atrophy, Kyphosis	OMIM:219080
Thanatophoric Dysplasia Type 2	Platyspondyly, Hypotonia, Cognitive impairment, Kyphosis	ORPHA:93274
Srd5A3-Cdg	Abnormal sacrum morphology, Infantile muscular hypotonia, Elevated hepatic transaminase, Kyphosis	ORPHA:324737
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Cognitive impairment, Kyphosis, Short neck	ORPHA:3098
19P13.12 Microdeletion Syndrome	Scoliosis, Short neck, Hypotonia, Kyphosis, Hyperlipidemia, Arthrogryposis multiplex congenita, O...	ORPHA:254346
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Desbuquois Dysplasia 1	Scoliosis, Short neck, Hypotonia, Generalized hypotonia, Kyphosis, Platyspondyly, Hyperlordosis, ...	OMIM:251450
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Spasticity, Infantile muscular hypotonia, Knee flexion contracture, Hip contracture, Hypertonia, ...	ORPHA:488642
Chromosome 3Q13.31 Deletion Syndrome	Hypotonia, Kyphosis	OMIM:615433
4Q21 Microdeletion Syndrome	Hypotonia, Scoliosis, Kyphosis, Short neck	ORPHA:238750
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Lumbar hyperlordosis, Short neck, Ovoid vertebral bodies, Hypotonia, Generalized hypot...	OMIM:183900
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Hump-shaped mound of bone in central and p...	OMIM:313400
Arthrogryposis, Distal, Type 4	Camptodactyly, Scoliosis, Torticollis, Distal arthrogryposis, Lumbar scoliosis, Camptodactyly of ...	OMIM:609128
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Scoliosis, Spina bifida occulta, Kyphosis	ORPHA:64755
Emanuel Syndrome	Torticollis, Scoliosis, Hypotonia, Sacral dimple, Kyphosis, Failure to thrive, Congenital diaphra...	OMIM:609029
Multiple Endocrine Neoplasia Type 2	Neck pain, Proximal amyotrophy, Muscle weakness, Kyphoscoliosis, Hyperlordosis, Hypercalcemia	ORPHA:653
Achondroplasia	Infantile muscular hypotonia, Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Cervical spi...	ORPHA:15
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Spasticity, Scoliosis, Thoracolumbar scoliosis, Hypotonia, Kyphosis, Encopresis, Hyperlordosis, O...	OMIM:618443
Magel2-Related Prader-Willi-Like Syndrome	Infantile muscular hypotonia, Scoliosis, Cognitive impairment, Kyphosis, Failure to thrive, Neona...	ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Marden-Walker Syndrome	Camptodactyly, Scoliosis, Short neck, Decreased muscle mass, Hypotonia, Generalized hypotonia, Ky...	OMIM:248700
Schwartz-Jampel Syndrome	Scoliosis, Cachexia, Elevated circulating creatine kinase concentration, Spinal rigidity, Shoulde...	ORPHA:800
Weismann-Netter Syndrome	Scoliosis, Kyphosis, Horizontal sacrum	OMIM:112350
Acute Adrenal Insufficiency	Hypercalcemia, Increased circulating renin level, Hyperuricemia, Hypotonia, Fatigue, Abdominal pa...	ORPHA:95409
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Thoracic kyphosis, Lumbar interpedicular narrowing, Platyspondyly, Biconcav...	OMIM:271510
Split Cord Malformation	Abnormal thoracic spine morphology, Lower limb pain, Bowel incontinence, Low back pain, Scoliosis...	ORPHA:573278
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Spastic tetraplegia, Cognitive impairment, Kyphosis, Rigidity, Platyspondyly, Mental ...	OMIM:618476
Frank-Ter Haar Syndrome	Camptodactyly, Prominent coccyx, Hypotonia, Kyphosis, Kyphoscoliosis, Anterior concavity of thora...	OMIM:249420
Cutis Laxa, Autosomal Recessive, Type Iic	Camptodactyly, Decreased body weight, Gowers sign, Knee flexion contracture, Generalized hypotoni...	OMIM:617402
Robinow Syndrome, Autosomal Dominant 2	Camptodactyly, Kyphoscoliosis, Sacral dimple	OMIM:616331
Gm1-Gangliosidosis, Type I	Scoliosis, Short neck, Hypotonia, Hypoplastic vertebral bodies, Kyphosis, Decreased beta-galactos...	OMIM:230500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Hypertyrosinemia, Elevated hepatic transaminase, Hypermethioninemia, Conjugated hyperbi...	OMIM:617156
Osteoporosis-Pseudoglioma Syndrome	Scoliosis, Hypotonia, Severe platyspondyly, Kyphosis, Vertebral compression fracture, Platyspondy...	OMIM:259770
Hajdu-Cheney Syndrome	Cervical instability, Short neck, Vertebral compression fracture, Failure to thrive, Tall lumbar ...	OMIM:102500
X-Linked Intellectual Disability, Snyder Type	Camptodactyly, Infantile muscular hypotonia, Decreased muscle mass, Kyphosis, Kyphoscoliosis	ORPHA:3063
Campomelic Dysplasia	Scoliosis, Cervical spine instability, Contracture of the distal interphalangeal joint of the fin...	OMIM:114290
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Hypotonia, Platyspondyly, Muscle weakness, Kyphoscoliosis	OMIM:225400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Ir...	OMIM:143095
Shigellosis	Rhabdomyolysis, Abnormal blood ion concentration, Abdominal cramps, Failure to thrive in infancy,...	ORPHA:810
Thanatophoric Dysplasia	Kyphosis, Hypotonia, Abnormal sacroiliac joint morphology, Platyspondyly	ORPHA:2655
Frank-Ter Haar Syndrome	Kyphosis, Camptodactyly of finger, Scoliosis, Beaking of vertebral bodies	ORPHA:137834
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Vertebral compression fracture	OMIM:618644
Spondylometaphyseal Dysplasia, Kozlowski Type	Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Abnormality of the vertebral column, Coronal ...	ORPHA:93314
Cutis Laxa, Autosomal Recessive, Type Iid	Camptodactyly, Generalized hypotonia, Failure to thrive, Kyphoscoliosis, Joint contracture	OMIM:617403
Pontocerebellar Hypoplasia, Type 17	Spastic tetraplegia, Limb hypertonia, Kyphosis, Axial hypotonia, Paroxysmal dystonia	OMIM:619909
Citrullinemia Type Ii	Abnormal eating behavior, Decreased body mass index, Hyperactivity, Restlessness, Memory impairme...	ORPHA:247585
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Camptodactyly, Bowel incontinence, Scoliosis, Generalized hypotonia, Kyphosis, Flexion contractur...	ORPHA:88628
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Hypotonia, Scoliosis, Kyphosis	ORPHA:261144
Plaa-Associated Neurodevelopmental Disorder	Bulbar palsy, Limb hypertonia, Hypotonia, Kyphosis, Rigidity, Failure to thrive, Progressive spas...	ORPHA:521426
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Hypotonia, Kyphosis, Fatigue, Scapular winging	OMIM:617061
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hypotonia, Generalized hypotonia, Knee flexion contracture, Hip contracture, Kyphoscoliosis	OMIM:210730
Histidinemia	Hyperhistidinemia, Hyperactivity, Histidinuria	ORPHA:2157
Cog1-Cdg	Butterfly vertebrae, Short neck, Generalized hypotonia, Failure to thrive, Irregularity of verteb...	ORPHA:263508
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Scoliosis, Short neck, Kyphosis, Congenital diaphragmatic hernia, Spina ...	ORPHA:2311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lumbar hyperlordosis, Cervical instability, Distal lower limb muscle weakness, Hypotonia, Severe ...	ORPHA:508533
Multiple Endocrine Neoplasia, Type Iib	Scoliosis, Myopathy, Hypotonia, Failure to thrive in infancy, Generalized hypotonia, Kyphosis, Hy...	OMIM:162300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Overweight, Hypotonia, Kyphosis, Failure to thrive, Neonatal hypotonia, Flexion contra...	ORPHA:500055
Congenital Disorder Of Glycosylation, Type Ia	Hypotonia, Elevated hepatic transaminase, Kyphosis, Failure to thrive, Muscle weakness, Flexion c...	OMIM:212065
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis	ORPHA:2771
Cono-Spondylar Dysplasia	Scoliosis, Short neck, Hypotonia, Kyphosis, Failure to thrive	ORPHA:420794
3Q27.3 Microdeletion Syndrome	Kyphoscoliosis	ORPHA:397695
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Acrorenal-Mandibular Syndrome	Butterfly vertebrae, Hemivertebrae, Abnormal sacral segmentation, Congenital diaphragmatic hernia...	OMIM:200980
Trisomy 13	Hypotonia, Cognitive impairment, Scoliosis, Kyphosis	ORPHA:3378
Cockayne Syndrome Type 2	Scoliosis, Limb hypertonia, Kyphosis, Axial hypotonia, Flexion contracture, Lower limb spasticity	ORPHA:90322
Prader-Willi Syndrome	Scoliosis, Decreased muscle mass, Failure to thrive in infancy, Generalized hypotonia, Kyphosis, ...	OMIM:176270
Coffin-Lowry Syndrome	Progressive spasticity, Scoliosis, Hypotonia, Skeletal muscle atrophy, Kyphosis, Muscle weakness,...	ORPHA:192
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Hemivertebrae, Congenital mu...	ORPHA:2916
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Generalized hypotonia, Kyphosis, Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Poor head control, Slender build, Left ventricular hypertrophy, Generalized hypotonia, Failure to...	ORPHA:466791
Basal Cell Nevus Syndrome 1	Scoliosis, Vertebral fusion, Vertebral wedging, Hemivertebrae, Kyphoscoliosis	OMIM:109400
Postencephalitic Parkinsonism	Cogwheel rigidity, Oculogyric crisis, Kyphosis, Rigidity, Camptocormia, Generalized muscle weakness	ORPHA:97349
Cholera	Abnormal blood ion concentration, Abdominal cramps, Hypokalemia, Abdominal pain, Muscle weakness,...	ORPHA:173
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis	ORPHA:2181
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Kyphosis, Fused cervical vertebrae, Hyperlordosis, Short neck	ORPHA:2522
Schinzel-Giedion Syndrome	Spasticity, Macroglossia, Sacrococcygeal teratoma, Scoliosis, Camptodactyly, Short neck, Failure ...	ORPHA:798

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